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Non-standard Discretisation Methods in Solid Mechanics; Lecture Notes in Applied and Computational Mechanics ,
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Hybrid Discretizations in Solid Mechanics for Non-linear an..:
, In:
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2
On an equivalence between a discontinuous Galerkin method a..:
Reese, S. ; Bayat, H.R. ; Wulfinghoff, S.
Computer Methods in Applied Mechanics and Engineering. 325 (2017) - p. 175-197 , 2017
Computer Methods in Applied Mechanics and Engineering. 325 (2017) - p. 175-197 , 2017
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Spectrum of Phenotypic, Genetic, and Functional Characteris..:
Schwarz, Niklas ; Seiffert, Simone ; Pendziwiat, Manuela...
Schwarz , N , Seiffert , S , Pendziwiat , M , Rademacher , A V , Brünger , T , Hedrich , U B S , Augustijn , P B , Baier , H , Bayat , A , Bisulli , F , Buono , R J , Bruria , B Z , Doyle , M G , Guerrini , R , Heimer , G , Iacomino , M , Kearney , H , Klein , K M , Kousiappa , I , Kunz , W S , Lerche , H , Licchetta , L , Lohmann , E , Minardi , R , McDonald , M , Montgomery , S , Mulahasanovic , L , Oegema , R , Ortal , B , Papacostas , S S , Ragona , F , Granata , T , Reif , P S , Rosenow , F , Rothschild , A , Scudieri , P , Striano , P , Tinuper , P , Tanteles , G A , Vetro , A , Zahnert , F , Goldberg , E M , Zara , F , Lal , D , May , P , Muhle , H , Helbig , I & Weber , Y 2022 , ' Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants ' , Neurology , vol. 98 , no. 20 , pp. E2046-E2059 . https://doi.org/10.1212/WNL.0000000000200660. , 2022
Schwarz , N , Seiffert , S , Pendziwiat , M , Rademacher , A V , Brünger , T , Hedrich , U B S , Augustijn , P B , Baier , H , Bayat , A , Bisulli , F , Buono , R J , Bruria , B Z , Doyle , M G , Guerrini , R , Heimer , G , Iacomino , M , Kearney , H , Klein , K M , Kousiappa , I , Kunz , W S , Lerche , H , Licchetta , L , Lohmann , E , Minardi , R , McDonald , M , Montgomery , S , Mulahasanovic , L , Oegema , R , Ortal , B , Papacostas , S S , Ragona , F , Granata , T , Reif , P S , Rosenow , F , Rothschild , A , Scudieri , P , Striano , P , Tinuper , P , Tanteles , G A , Vetro , A , Zahnert , F , Goldberg , E M , Zara , F , Lal , D , May , P , Muhle , H , Helbig , I & Weber , Y 2022 , ' Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants ' , Neurology , vol. 98 , no. 20 , pp. E2046-E2059 . https://doi.org/10.1212/WNL.0000000000200660. , 2022
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ERS International Congress 2021:highlights from the Respira..:
Gille, Thomas ; Sivapalan, Pradeesh ; Kaltsakas, Georgios...
Gille , T , Sivapalan , P , Kaltsakas , G , Kolekar , S B , Armstrong , M , Tuffnell , R , Evans , R A , Vagheggini , G , Degani-Costa , L H , Vicente , C , Das , N , Poberezhets , V , Rolland-Debord , C , Bayat , S , Vogiatzis , I , Franssen , F M E , Pinnock , H & Vanfleteren , L E G W 2022 , ' ERS International Congress 2021 : highlights from the Respiratory Clinical Care and Physiology Assembly ' , ERJ Open Research , vol. 8 , no. 2 , 00710-2021 . https://doi.org/10.1183/23120541.00710-2021. , 2022
Gille , T , Sivapalan , P , Kaltsakas , G , Kolekar , S B , Armstrong , M , Tuffnell , R , Evans , R A , Vagheggini , G , Degani-Costa , L H , Vicente , C , Das , N , Poberezhets , V , Rolland-Debord , C , Bayat , S , Vogiatzis , I , Franssen , F M E , Pinnock , H & Vanfleteren , L E G W 2022 , ' ERS International Congress 2021 : highlights from the Respiratory Clinical Care and Physiology Assembly ' , ERJ Open Research , vol. 8 , no. 2 , 00710-2021 . https://doi.org/10.1183/23120541.00710-2021. , 2022
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KCNQ2 R144 variants cause neurodevelopmental disability wit..:
Miceli, Francesco ; Millevert, Charissa ; Soldovieri, Maria Virginia...
Miceli , F , Millevert , C , Soldovieri , M V , Mosca , I , Ambrosino , P , Carotenuto , L , Schrader , D , Lee , H K , Riviello , J , Hong , W , Risen , S , Emrick , L , Amin , H , Ville , D , Edery , P , de Bellescize , J , Michaud , V , Van-Gils , J , Goizet , C , Willemsen , M H , Kleefstra , T , Møller , R S , Bayat , A , Devinsky , O , Sands , T , Korenke , G C , Kluger , G , Mefford , H C , Brilstra , E , Lesca , G , Milh , M , Cooper , E C , Taglialatela , M & Weckhuysen , S 2022 , ' KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism ' , EBioMedicine , vol. 81 , 104130 . https://doi.org/10.1016/j.ebiom.2022.104130. , 2022
Miceli , F , Millevert , C , Soldovieri , M V , Mosca , I , Ambrosino , P , Carotenuto , L , Schrader , D , Lee , H K , Riviello , J , Hong , W , Risen , S , Emrick , L , Amin , H , Ville , D , Edery , P , de Bellescize , J , Michaud , V , Van-Gils , J , Goizet , C , Willemsen , M H , Kleefstra , T , Møller , R S , Bayat , A , Devinsky , O , Sands , T , Korenke , G C , Kluger , G , Mefford , H C , Brilstra , E , Lesca , G , Milh , M , Cooper , E C , Taglialatela , M & Weckhuysen , S 2022 , ' KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism ' , EBioMedicine , vol. 81 , 104130 . https://doi.org/10.1016/j.ebiom.2022.104130. , 2022
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PURA-Related Developmental and Epileptic Encephalopathy:Phe..:
Johannesen, Katrine M ; Gardella, Elena ; Gjerulfsen, Cathrine E...
Johannesen , K M , Gardella , E , Gjerulfsen , C E , Bayat , A , Rouhl , R P W , Reijnders , M , Whalen , S , Keren , B , Buratti , J , Courtin , T , Wierenga , K J , Isidor , B , Piton , A , Faivre , L , Garde , A , Moutton , S , Tran-Mau-Them , F , Denommé-Pichon , A S , Coubes , C , Larson , A , Esser , M J , Appendino , J P , Al-Hertani , W , Gamboni , B , Mampel , A , Mayorga , L , Orsini , A , Bonuccelli , A , Suppiej , A , Van-Gils , J , Vogt , J , Damioli , S , Giordano , L , Moortgat , S , Wirrell , E , Hicks , S , Kini , U , Noble , N , Stewart , H , Asakar , S , Cohen , J S , Naidu , S B R , Collier , A , Brilstra , E H , Li , M H , Brew , C , Bigoni , S , Ognibene , D , Møller , R S , Rubboli , G & PURA study group 2021 , ' PURA-Related Developmental and Epileptic Encephalopathy : Phenotypic and Genotypic Spectrum ' , Neurology: Genetics , vol. 7 , no. 6 , e613 . https://doi.org/10.1212/NXG.0000000000000613. , 2021
Johannesen , K M , Gardella , E , Gjerulfsen , C E , Bayat , A , Rouhl , R P W , Reijnders , M , Whalen , S , Keren , B , Buratti , J , Courtin , T , Wierenga , K J , Isidor , B , Piton , A , Faivre , L , Garde , A , Moutton , S , Tran-Mau-Them , F , Denommé-Pichon , A S , Coubes , C , Larson , A , Esser , M J , Appendino , J P , Al-Hertani , W , Gamboni , B , Mampel , A , Mayorga , L , Orsini , A , Bonuccelli , A , Suppiej , A , Van-Gils , J , Vogt , J , Damioli , S , Giordano , L , Moortgat , S , Wirrell , E , Hicks , S , Kini , U , Noble , N , Stewart , H , Asakar , S , Cohen , J S , Naidu , S B R , Collier , A , Brilstra , E H , Li , M H , Brew , C , Bigoni , S , Ognibene , D , Møller , R S , Rubboli , G & PURA study group 2021 , ' PURA-Related Developmental and Epileptic Encephalopathy : Phenotypic and Genotypic Spectrum ' , Neurology: Genetics , vol. 7 , no. 6 , e613 . https://doi.org/10.1212/NXG.0000000000000613. , 2021
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PURA-Related Developmental and Epileptic Encephalopathy:
Johannesen, K.M ; Gardella, E ; Gjerulfsen, C.E...
Johannesen , K M , Gardella , E , Gjerulfsen , C E , Bayat , A , Rouhl , R P W , Reijnders , M , Whalen , S , Keren , B , Buratti , J , Courtin , T , Wierenga , K J , Isidor , B , Piton , A , Faivre , L , Garde , A , Moutton , S , Tran-Mau-Them , F , Denomme-Pichon , A S , Coubes , C , Larson , A , Esser , M J , Appendino , J P , Al-Hertani , W , Gamboni , B , Mampel , A , Mayorga , L , Orsini , A , Bonuccelli , A , Suppiej , A , Van-Gils , J , Vogt , J , Damioli , S , Giordano , L , Moortgat , S , Wirrell , E , Hicks , S , Kini , U , Noble , N , Stewart , H , Asakar , S , Cohen , J S , Naidu , S R , Collier , A , Brilstra , E H , Li , M H , Brew , C , Bigoni , S , Ognibene , D , Ballardini , E , Ruivenkamp , C & PURA study group 2021 , ' PURA-Related Developmental and Epileptic Encephalopathy ' , Neurology. Genetics , vol. 7 , no. 6 , e613 . https://doi.org/10.1212/NXG.0000000000000613. , 2021
Johannesen , K M , Gardella , E , Gjerulfsen , C E , Bayat , A , Rouhl , R P W , Reijnders , M , Whalen , S , Keren , B , Buratti , J , Courtin , T , Wierenga , K J , Isidor , B , Piton , A , Faivre , L , Garde , A , Moutton , S , Tran-Mau-Them , F , Denomme-Pichon , A S , Coubes , C , Larson , A , Esser , M J , Appendino , J P , Al-Hertani , W , Gamboni , B , Mampel , A , Mayorga , L , Orsini , A , Bonuccelli , A , Suppiej , A , Van-Gils , J , Vogt , J , Damioli , S , Giordano , L , Moortgat , S , Wirrell , E , Hicks , S , Kini , U , Noble , N , Stewart , H , Asakar , S , Cohen , J S , Naidu , S R , Collier , A , Brilstra , E H , Li , M H , Brew , C , Bigoni , S , Ognibene , D , Ballardini , E , Ruivenkamp , C & PURA study group 2021 , ' PURA-Related Developmental and Epileptic Encephalopathy ' , Neurology. Genetics , vol. 7 , no. 6 , e613 . https://doi.org/10.1212/NXG.0000000000000613. , 2021
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Lessons learned from 40 novel PIGA patients and a review of..:
Bayat, Allan ; Knaus, Alexej ; Pendziwiat, Manuela...
Bayat , A , Knaus , A , Pendziwiat , M , Afenjar , A , Stefan Barakat , T , Bosch , F , Callewaert , B , Calvas , P , Ceulemans , B , Chassaing , N , Depienne , C , Endziniene , M , Ferreira , C R , Moura de Souza , C F , Freihuber , C , Ganesan , S , Gataullina , S , Guerrini , R , Guerrot , A-M , Hansen , L , Jezela-Stanek , A , Karsenty , C , Kievit , A , Kooy , F R , Korff , C M , Kragh Hansen , J , Larsen , M , Layet , V , Lesca , G , McBride , K L , Meuwissen , M , Mignot , C , Montomoli , M , Moore , H , Naudion , S , Nava , C , Nougues , M-C , Parrini , E , Pastore , M , Schelhaas , J H , Skinner , S , Szczałuba , K , Thomas , A , Thomassen , M , Tranebjaerg , L , van Slegtenhorst , M , Wolfe , L A , Lal , D , Gardella , E , Bomme Ousager , L , Brünger , T , Helbig , I , Krawitz , P & Møller , R S 2020 , ' Lessons learned from 40 novel PIGA patients and a review of the literature ' , Epilepsia , vol. 61 , no. 6 , pp. 1142-1155 . https://doi.org/1.... , 2020
Bayat , A , Knaus , A , Pendziwiat , M , Afenjar , A , Stefan Barakat , T , Bosch , F , Callewaert , B , Calvas , P , Ceulemans , B , Chassaing , N , Depienne , C , Endziniene , M , Ferreira , C R , Moura de Souza , C F , Freihuber , C , Ganesan , S , Gataullina , S , Guerrini , R , Guerrot , A-M , Hansen , L , Jezela-Stanek , A , Karsenty , C , Kievit , A , Kooy , F R , Korff , C M , Kragh Hansen , J , Larsen , M , Layet , V , Lesca , G , McBride , K L , Meuwissen , M , Mignot , C , Montomoli , M , Moore , H , Naudion , S , Nava , C , Nougues , M-C , Parrini , E , Pastore , M , Schelhaas , J H , Skinner , S , Szczałuba , K , Thomas , A , Thomassen , M , Tranebjaerg , L , van Slegtenhorst , M , Wolfe , L A , Lal , D , Gardella , E , Bomme Ousager , L , Brünger , T , Helbig , I , Krawitz , P & Møller , R S 2020 , ' Lessons learned from 40 novel PIGA patients and a review of the literature ' , Epilepsia , vol. 61 , no. 6 , pp. 1142-1155 . https://doi.org/1.... , 2020
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Early infantile epileptic encephalopathy due to biallelic p..:
Johnstone, Devon L ; Nguyen, Thi Tuyet Mai ; Zambonin, Jessica...
Johnstone , D L , Nguyen , T T M , Zambonin , J , Kernohan , K D , St-Denis , A , Baratang , N V , Hartley , T , Geraghty , M T , Richer , J , Majewski , J , Bareke , E , Guerin , A , Pendziwiat , M , Pena , L D M , Braakman , H M H , Grip , K W , Edmondson , A C , He , M , Spillmann , R C , Eklund , E A , Bayat , A , Network , U D , McMillan , H J , Boycott , K M , Campeau , P M & Care4Rare Canada Consortium 2020 , ' Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 6 , pp. 1321-1332 . https://doi.org/10.1002/jimd.12278. , 2020
Johnstone , D L , Nguyen , T T M , Zambonin , J , Kernohan , K D , St-Denis , A , Baratang , N V , Hartley , T , Geraghty , M T , Richer , J , Majewski , J , Bareke , E , Guerin , A , Pendziwiat , M , Pena , L D M , Braakman , H M H , Grip , K W , Edmondson , A C , He , M , Spillmann , R C , Eklund , E A , Bayat , A , Network , U D , McMillan , H J , Boycott , K M , Campeau , P M & Care4Rare Canada Consortium 2020 , ' Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 6 , pp. 1321-1332 . https://doi.org/10.1002/jimd.12278. , 2020
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Assessment of transdermal delivery of topical compounds in ..:
Basson, Rubinder ; Lima, Cassio ; Muhamadali, Howbeer...
Basson , R , Lima , C , Muhamadali , H , Li , W , Hollywood , K , Li , L , Baguneid , M , Al Kredly , R , Goodacre , R & Bayat , A 2020 , ' Assessment of transdermal delivery of topical compounds in skin scarring using a novel combined approach of Raman spectroscopy and HPLC ' , Advances in Wound Care . https://doi.org/10.1089/wound.2020.1154. , 2020
Basson , R , Lima , C , Muhamadali , H , Li , W , Hollywood , K , Li , L , Baguneid , M , Al Kredly , R , Goodacre , R & Bayat , A 2020 , ' Assessment of transdermal delivery of topical compounds in skin scarring using a novel combined approach of Raman spectroscopy and HPLC ' , Advances in Wound Care . https://doi.org/10.1089/wound.2020.1154. , 2020
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Early infantile epileptic encephalopathy due to biallelic p..:
Johnstone, Devon L ; Nguyen, Thi Tuyet Mai ; Zambonin, Jessica...
Johnstone , D L , Nguyen , T T M , Zambonin , J , Kernohan , K D , St-Denis , A , Baratang , N V , Hartley , T , Geraghty , M T , Richer , J , Majewski , J , Bareke , E , Guerin , A , Pendziwiat , M , Pena , L D M , Braakman , H M H , Gripp , K W , Edmondson , A C , He , M , Spillmann , R C , Eklund , E A , Bayat , A , McMillan , H J , Boycott , K M & Campeau , P M 2020 , ' Early infantile epileptic encephalopathy due to biallelic pathogenic variants inPIGQ : Report of seven new subjects and review of the literature ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 6 , pp. 1321-1332 . https://doi.org/10.1002/jimd.12278. , 2020
Johnstone , D L , Nguyen , T T M , Zambonin , J , Kernohan , K D , St-Denis , A , Baratang , N V , Hartley , T , Geraghty , M T , Richer , J , Majewski , J , Bareke , E , Guerin , A , Pendziwiat , M , Pena , L D M , Braakman , H M H , Gripp , K W , Edmondson , A C , He , M , Spillmann , R C , Eklund , E A , Bayat , A , McMillan , H J , Boycott , K M & Campeau , P M 2020 , ' Early infantile epileptic encephalopathy due to biallelic pathogenic variants inPIGQ : Report of seven new subjects and review of the literature ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 6 , pp. 1321-1332 . https://doi.org/10.1002/jimd.12278. , 2020
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The ARID1B spectrum in 143 patients:from nonsyndromic intel..:
van der Sluijs, Eline P J ; Jansen, Sandra ; Vergano, Samantha A...
van der Sluijs , E P J , Jansen , S , Vergano , S A , Adachi-Fukuda , M , Alanay , Y , AlKindy , A , Baban , A , Bayat , A , Beck-Wödl , S , Berry , K , Bijlsma , E K , Bok , L A , Brouwer , A F J , van der Burgt , I , Campeau , P M , Canham , N , Chrzanowska , K , Chu , Y W Y , Chung , B H Y , Dahan , K , De Rademaeker , M , Destree , A , Dudding-Byth , T , Earl , R , Elcioglu , N , Elias , E R , Fagerberg , C , Gardham , A , Gener , B , Gerkes , E H , Grasshoff , U , van Haeringen , A , Heitink , K R , Herkert , J C , den Hollander , N S , Horn , D , Hunt , D , Kant , S G , Kato , M , Kayserili , H , Kersseboom , R , Kilic , E , Krajewska-Walasek , M , Lammers , K , Laulund , L W , Lederer , D , Lees , M , López-González , V , Maas , S , Mancini , G M S , Marcelis , C , Martinez , F , Maystadt , I , McGuire , M , McKee , S , Mehta , S , Metcalfe , K , Milunsky , J , Mizuno , S , Moeschler , J B , Netzer , C , Ockeloen , C W , Oehl-Jaschkowitz , B , Okamoto.... , 2019
van der Sluijs , E P J , Jansen , S , Vergano , S A , Adachi-Fukuda , M , Alanay , Y , AlKindy , A , Baban , A , Bayat , A , Beck-Wödl , S , Berry , K , Bijlsma , E K , Bok , L A , Brouwer , A F J , van der Burgt , I , Campeau , P M , Canham , N , Chrzanowska , K , Chu , Y W Y , Chung , B H Y , Dahan , K , De Rademaeker , M , Destree , A , Dudding-Byth , T , Earl , R , Elcioglu , N , Elias , E R , Fagerberg , C , Gardham , A , Gener , B , Gerkes , E H , Grasshoff , U , van Haeringen , A , Heitink , K R , Herkert , J C , den Hollander , N S , Horn , D , Hunt , D , Kant , S G , Kato , M , Kayserili , H , Kersseboom , R , Kilic , E , Krajewska-Walasek , M , Lammers , K , Laulund , L W , Lederer , D , Lees , M , López-González , V , Maas , S , Mancini , G M S , Marcelis , C , Martinez , F , Maystadt , I , McGuire , M , McKee , S , Mehta , S , Metcalfe , K , Milunsky , J , Mizuno , S , Moeschler , J B , Netzer , C , Ockeloen , C W , Oehl-Jaschkowitz , B , Okamoto.... , 2019
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Correction: The ARID1B spectrum in 143 patients: from nonsy..:
van der Sluijs, Pleuntje J ; Jansen, Sandra ; Vergano, Samantha A...
van der Sluijs , P J , Jansen , S , Vergano , S A , Adachi-Fukuda , M , Alanay , Y , AlKindy , A , Baban , A , Bayat , A , Beck-Woedl , S , Berry , K , Bijlsma , E K , Bok , L A , Brouwer , A F J , van der Burgt , I , Campeau , P M , Canham , N , Chrzanowska , K , Chu , Y W Y , Chung , B H Y , Dahan , K , De Rademaeker , M , Destree , A , Dudding-Byth , T , Earl , R , Elcioglu , N , Elias , E R , Fagerberg , C , Gardham , A , Gener , B , Gerkes , E H , Grasshoff , U , van Haeringen , A , Heitink , K R , Herkert , J C , den Hollander , N S , Horn , D , Hunt , D , Kant , S G , Kato , M , Kayserili , H , Kersseboom , R , Kilic , E , Krajewska-Walasek , M , Lammers , K , Laulund , L W , Lederer , D , Lees , M , Lopez-Gonzalez , V , Maas , S , Mancini , G M S , Marcelis , C , Martinez , F , Maystadt , I , McGuire , M , Mckee , S , Mehta , S , Metcalfe , K , Milunsky , J , Mizuno , S , Moeschler , J B , Netzer , C , Ockeloen , C W , Oehl-Jaschkowitz , B , Okamoto , N , Olminkhof.... , 2019
van der Sluijs , P J , Jansen , S , Vergano , S A , Adachi-Fukuda , M , Alanay , Y , AlKindy , A , Baban , A , Bayat , A , Beck-Woedl , S , Berry , K , Bijlsma , E K , Bok , L A , Brouwer , A F J , van der Burgt , I , Campeau , P M , Canham , N , Chrzanowska , K , Chu , Y W Y , Chung , B H Y , Dahan , K , De Rademaeker , M , Destree , A , Dudding-Byth , T , Earl , R , Elcioglu , N , Elias , E R , Fagerberg , C , Gardham , A , Gener , B , Gerkes , E H , Grasshoff , U , van Haeringen , A , Heitink , K R , Herkert , J C , den Hollander , N S , Horn , D , Hunt , D , Kant , S G , Kato , M , Kayserili , H , Kersseboom , R , Kilic , E , Krajewska-Walasek , M , Lammers , K , Laulund , L W , Lederer , D , Lees , M , Lopez-Gonzalez , V , Maas , S , Mancini , G M S , Marcelis , C , Martinez , F , Maystadt , I , McGuire , M , Mckee , S , Mehta , S , Metcalfe , K , Milunsky , J , Mizuno , S , Moeschler , J B , Netzer , C , Ockeloen , C W , Oehl-Jaschkowitz , B , Okamoto , N , Olminkhof.... , 2019
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PIGT-CDG, a disorder of the glycosylphosphatidylinositol an..:
Bayat, Allan ; Knaus, Alexej ; Juul, Annika Wollenberg...
Bayat , A , Knaus , A , Juul , A W , Dukic , D , Gardella , E , Charzewska , A , Clement , E , Hjalgrim , H , Hoffman-Zacharska , D , Horn , D , Horton , R , Hurst , J A , Josifova , D , Larsen , L H G , Lascelles , K , Obersztyn , E , Pagnamenta , A , Pal , D K , Pendziwiat , M , Ryten , M , Taylor , J , Vogt , J , Weber , Y , Krawitz , P M , Helbig , I , Kini , U , Møller , R S & the DDD Study Group 2019 , ' PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor : description of 13 novel patients and expansion of the clinical characteristics ' , Genetics in Medicine , vol. 21 , no. 10 , pp. 2216-2223 . https://doi.org/10.1038/s41436-019-0512-3. , 2019
Bayat , A , Knaus , A , Juul , A W , Dukic , D , Gardella , E , Charzewska , A , Clement , E , Hjalgrim , H , Hoffman-Zacharska , D , Horn , D , Horton , R , Hurst , J A , Josifova , D , Larsen , L H G , Lascelles , K , Obersztyn , E , Pagnamenta , A , Pal , D K , Pendziwiat , M , Ryten , M , Taylor , J , Vogt , J , Weber , Y , Krawitz , P M , Helbig , I , Kini , U , Møller , R S & the DDD Study Group 2019 , ' PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor : description of 13 novel patients and expansion of the clinical characteristics ' , Genetics in Medicine , vol. 21 , no. 10 , pp. 2216-2223 . https://doi.org/10.1038/s41436-019-0512-3. , 2019
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PEDIA:prioritization of exome data by image analysis:
Hsieh, Tzung Chien ; Mensah, Martin A ; Pantel, Jean T...
Hsieh , T C , Mensah , M A , Pantel , J T , Aguilar , D , Bar , O , Bayat , A , Becerra-Solano , L , Bentzen , H B , Biskup , S , Borisov , O , Braaten , O , Ciaccio , C , Coutelier , M , Cremer , K , Danyel , M , Daschkey , S , Eden , H D , Devriendt , K , Wilson , S , Douzgou , S , Đukić , D , Ehmke , N , Fauth , C , Fischer-Zirnsak , B , Fleischer , N , Gabriel , H , Graul-Neumann , L , Gripp , K W , Gurovich , Y , Gusina , A , Haddad , N , Hajjir , N , Hanani , Y , Hertzberg , J , Hoertnagel , K , Howell , J , Ivanovski , I , Kaindl , A , Kamphans , T , Kamphausen , S , Karimov , C , Kathom , H , Keryan , A , Knaus , A , Köhler , S , Kornak , U , Lavrov , A , Leitheiser , M , Lyon , G J , Fagerberg , C R , Robinson , P N , Rosnev , S , Rudnik , S , Rudolf , G , Schatz , U , Schossig , A , Schubach , M , Shanoon , O , Sheridan , E , Smirin-Yosef , P & Spielmann , M 2019 , ' PEDIA : prioritization of exome data by image analysis ' , Genetics in Medicin.... , 2019
Hsieh , T C , Mensah , M A , Pantel , J T , Aguilar , D , Bar , O , Bayat , A , Becerra-Solano , L , Bentzen , H B , Biskup , S , Borisov , O , Braaten , O , Ciaccio , C , Coutelier , M , Cremer , K , Danyel , M , Daschkey , S , Eden , H D , Devriendt , K , Wilson , S , Douzgou , S , Đukić , D , Ehmke , N , Fauth , C , Fischer-Zirnsak , B , Fleischer , N , Gabriel , H , Graul-Neumann , L , Gripp , K W , Gurovich , Y , Gusina , A , Haddad , N , Hajjir , N , Hanani , Y , Hertzberg , J , Hoertnagel , K , Howell , J , Ivanovski , I , Kaindl , A , Kamphans , T , Kamphausen , S , Karimov , C , Kathom , H , Keryan , A , Knaus , A , Köhler , S , Kornak , U , Lavrov , A , Leitheiser , M , Lyon , G J , Fagerberg , C R , Robinson , P N , Rosnev , S , Rudnik , S , Rudolf , G , Schatz , U , Schossig , A , Schubach , M , Shanoon , O , Sheridan , E , Smirin-Yosef , P & Spielmann , M 2019 , ' PEDIA : prioritization of exome data by image analysis ' , Genetics in Medicin.... , 2019
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