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Clinico-radiological features, molecular spectrum, and iden..:

Scala, Marcello ; Wortmann, Saskia B ; Kaya, Namik...
Scala , M , Wortmann , S B , Kaya , N , Stellingwerff , M D , Pistorio , A , Glamuzina , E , van Karnebeek , C D , Skrypnyk , C , Iwanicka-Pronicka , K , Piekutowska-Abramczuk , D , Ciara , E , Tort , F , Sheidley , B , Poduri , A , Jayakar , P , Jayakar , A , Upadia , J , Walano , N , Haack , T B , Prokisch , H , Aldhalaan , H , Karimiani , E G , Yildiz , Y , Ceylan , A C , Santiago-Sim , T , Dameron , A , Yang , H , Toosi , M B , Ashrafzadeh , F , Akhondian , J , Imannezhad , S , Mirzadeh , H S , Maqbool , S , Farid , A , Al-Muhaizea , M A , Alshwameen , M O , Aldowsari , L , Alsagob , M , Alyousef , A , AlMass , R , AlHargan , A , Alwadei , A H , AlRasheed , M M , Colak , D , Alqudairy , H , Khan , S , Lines , M A , García Cazorla , M Á , Ribes , A , Morava , E , Bibi , F , Haider , S , Ferla , M P , Taylor , J C , Alsaif , H S , Firdous , A , Hashem , M , Shashkin , C , Koneev , K , Kaiyrzhanov , R , Efthymiou , S , Genomics , Q S , Schmitt-Mechelke , T , Zie.... , 2022

Link: https://pure.eur.nl/en/publications/8f44f678-de01-492d..

RT Journal
T1 <Title>Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency</Title>

UL https://suche.suub.uni-bremen.de/peid=base-fturottercrispub:oai:pure.eur.nl:publications_8f44f678-de01-492d-b764-468bcda6b382&Exemplar=1&LAN=DE
				
A1 Scala, Marcello
A1 Wortmann, Saskia B
A1 Kaya, Namik
A1 Stellingwerff, Menno D
A1 Pistorio, Angela
A1 Glamuzina, Emma
A1 van Karnebeek, Clara D
A1 Skrypnyk, Cristina
A1 Iwanicka-Pronicka, Katarzyna
A1 Piekutowska-Abramczuk, Dorota
A1 Ciara, Elżbieta
A1 Tort, Frederic
A1 Sheidley, Beth
A1 Poduri, Annapurna
A1 Jayakar, Parul
A1 Jayakar, Anuj
A1 Upadia, Jariya
A1 Walano, Nicolette
A1 Haack, Tobias B
A1 Prokisch, Holger
A1 Aldhalaan, Hesham
A1 Karimiani, Ehsan G
A1 Yildiz, Yilmaz
A1 Ceylan, Ahmet C
A1 Santiago-Sim, Teresa
A1 Dameron, Amy
A1 Yang, Hui
A1 Toosi, Mehran B
A1 Ashrafzadeh, Farah
A1 Akhondian, Javad
A1 Imannezhad, Shima
A1 Mirzadeh, Hanieh S
A1 Maqbool, Shazia
A1 Farid, Aisha
A1 Al-Muhaizea, Mohamed A
A1 Alshwameen, Meznah O
A1 Aldowsari, Lama
A1 Alsagob, Maysoon
A1 Alyousef, Ashwaq
A1 AlMass, Rawan
A1 AlHargan, Aljouhra
A1 Alwadei, Ali H
A1 AlRasheed, Maha M
A1 Colak, Dilek
A1 Alqudairy, Hanan
A1 Khan, Sameena
A1 Lines, Matthew A
A1 García Cazorla, M. Ángeles
A1 Ribes, Antonia
A1 Morava, Eva
YR 2022
JF Scala , M , Wortmann , S B , Kaya , N , Stellingwerff , M D , Pistorio , A , Glamuzina , E , van Karnebeek , C D , Skrypnyk , C , Iwanicka-Pronicka , K , Piekutowska-Abramczuk , D , Ciara , E , Tort , F , Sheidley , B , Poduri , A , Jayakar , P , Jayakar , A , Upadia , J , Walano , N , Haack , T B , Prokisch , H , Aldhalaan , H , Karimiani , E G , Yildiz , Y , Ceylan , A C , Santiago-Sim , T , Dameron , A , Yang , H , Toosi , M B , Ashrafzadeh , F , Akhondian , J , Imannezhad , S , Mirzadeh , H S , Maqbool , S , Farid , A , Al-Muhaizea , M A , Alshwameen , M O , Aldowsari , L , Alsagob , M , Alyousef , A , AlMass , R , AlHargan , A , Alwadei , A H , AlRasheed , M M , Colak , D , Alqudairy , H , Khan , S , Lines , M A , García Cazorla , M Á , Ribes , A , Morava , E , Bibi , F , Haider , S , Ferla , M P , Taylor , J C , Alsaif , H S , Firdous , A , Hashem , M , Shashkin , C , Koneev , K , Kaiyrzhanov , R , Efthymiou , S , Genomics , Q S , Schmitt-Mechelke , T , Zie...
LK http://dx.doi.org/https://pure.eur.nl/en/publications/8f44f678-de01-492d-b764-468bcda6b382
DO https://pure.eur.nl/en/publications/8f44f678-de01-492d-b764-468bcda6b382
SF ELIB - SuUB Bremen

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