Jones, Wendy D.
1224  Ergebnisse:
Personensuche X
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1

Detailed analysis of ITPR1 missense variants guides diagnos..:

Tolonen, Jussi Pekka ; Parolin Schnekenberg, Ricardo ; McGowan, Simon...
Tolonen , J P , Parolin Schnekenberg , R , McGowan , S , Sims , D , McEntagart , M , Elmslie , F , Shears , D , Stewart , H , Tofaris , G K , Dabir , T , Morrison , P J , Johnson , D , Hadjivassiliou , M , Ellard , S , Shaw‐Smith , C , Znaczko , A , Dixit , A , Suri , M , Sarkar , A , Harrison , R E , Jones , G , Houlden , H , Ceravolo , G , Jarvis , J , Williams , J , Shanks , M E , Clouston , P , Rankin , J , Blumkin , L , Lerman‐Sagie , T , Ponger , P , Raskin , S , Granath , K , Uusimaa , J , Conti , H , McCann , E , Joss , S , Blakes , A J M , Metcalfe , K , Kingston , H , Bertoli , M , Kneen , R , Lynch , S A , Martínez Albaladejo , I , Moore , A P , Jones , W D , Becker , E B E , Németh , A H & Genomics England Research Consortium 2023 , ' Detailed analysis of ITPR1 missense variants guides diagnostics and therapeutic design ' , Movement Disorders . https://doi.org/10.1002/mds.29651.  , 2023
 
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2

Germline homozygous missense DEPDC5 variants cause severe r..:

Ververi, Athina ; Zagaglia, Sara ; Menzies, Lara...
info:eu-repo/semantics/altIdentifier/doi/10.1093/hmg/ddac225.  , 2023
 
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4

Epigenotype-genotype–phenotype correlations in SETD1A and S..:

Lee, Sunwoo ; Menzies, Lara ; Hay, Eleanor...
Lee , S , Menzies , L , Hay , E , Ochoa , E , Docquier , F , Rodger , F , Deshpande , C , Foulds , N C , Jacquemont , S , Jizi , K , Kiep , H , Kraus , A , Löhner , K , Morrison , P J , Popp , B , Richardson , R , Haeringen , A , Martin , E , Toribio , A , Li , F , Jones , W D , Sansbury , F H & Maher , E R 2023 , ' Epigenotype-genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders ' , Human Molecular Genetics . https://doi.org/10.1093/hmg/ddad079.  , 2023
 
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6

Germline homozygous missense DEPDC5 variants cause severe r..:

Ververi, Athina ; Zagaglia, Sara ; Menzies, Lara...
info:eu-repo/semantics/altIdentifier/doi/10.1093/hmg/ddac225.  , 2023
 
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7

Detailed Analysis of ITPR1 Missense Variants Guides Diagnos..:

Tolonen, Jussi Pekka ; Parolin Schnekenberg, Ricardo ; McGowan, Simon...
https://discovery.ucl.ac.uk/id/eprint/10181855/1/Detailed%20Analysis%20of%20ITPR1%20Missense%20Variants%20Guides.pdf.  , 2023
 
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8

Epigenotype-genotype-phenotype correlations in SETD1A and S..:

Lee, Sunwoo ; Menzies, Lara ; Hay, Eleanor...
https://publications.aston.ac.uk/id/eprint/45860/1/Sunwoo_Lee_et_al_Epigenotype-genotype-phenotype_correlations_in_SETD1A_and_SETD2_chromatin_disorders.pdf.  , 2023
 
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10

Clinical, genetic, epidemiologic, evolutionary, and functio..:

Jackson, Adam ; Lin, Sheng-Jia ; Jones, Elizabeth A...
Genomics England Research Consortium , Jackson , A , Lin , S-J , Jones , E A , Chandler , K E , Orr , D , Moss , C , Haider , Z , Ryan , G , Harrison , M , Burrows , N , Jones , W D , Loveless , M , Petree , C , Stewart , H , Low , K , Donnelly , D , Lovell , S , Drosou , K , Varshney , G K & Banka , S 2023 , ' Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related Autosomal Recessive Ectodermal Dysplasia 14 ' , Human Genetics and Genomics Advances , vol. 4 , no. 2 , 100186 , pp. 100186 . https://doi.org/10.1016/j.xhgg.2023.100186.  , 2023
 
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11

COVID-19 Vaccine Education (CoVE) for Health and Care Worke..:

Blake, Holly ; Fecowycz, Aaron ; Starbuck, Hollie.
https://bucks.repository.guildhe.ac.uk/id/eprint/18487/2/Header%20Repository.pdf.  , 2022
 
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13

Germline homozygous missense DEPDC5 variants cause severe r..:

Ververi, Athina ; Zagaglia, Sara ; Menzies, Lara...
https://discovery.ucl.ac.uk/id/eprint/10155379/1/Sisodiya_ddac225.pdf.  , 2022
 
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