Kupchik, Gabriel S.
28  Ergebnisse:
Personensuche X
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2

Heterozygous loss-of-function variants of MEIS2 cause a tri..:

DDD study ; Verheije, Rosalind ; Kupchik, Gabriel S....
European Journal of Human Genetics.  27 (2018)  2 - p. 278-290 , 2018
 
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8

Heterozygous loss-of-function variants of MEIS2 cause a tri..:

Verheije, Rosalind ; Kupchik, Gabriel S ; Isidor, Bertrand...
Verheije , R , Kupchik , G S , Isidor , B , Kroes , H Y , Lynch , S A , Hawkes , L , Hempel , M , Gelb , B D , Ghoumid , J , D'amours , G , Chandler , K , Dubourg , C , Loddo , S , Tümer , Z , Shaw-smith , C , Nizon , M , Shevell , M , Van Hoof , E , Anyane-yeboa , K , Cerbone , G , Clayton-smith , J , Cogné , B , Corre , P , Corveleyn , A , De Borre , M , Hjortshøj , T D , Fradin , M , Gewillig , M , Goldmuntz , E , Hens , G , Lemyre , E , Journel , H , Kini , U , Kortüm , F , Le Caignec , C , Novelli , A , Odent , S , Petit , F , Revah-politi , A , Stong , N , Strom , T M , Van Binsbergen , E , Devriendt , K & Breckpot , J 2019 , ' Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability ' , European Journal of Human Genetics , vol. 27 , no. 2 , pp. 278-290 . https://doi.org/10.1038/s41431-018-0281-5.  , 2019
 
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10

ScreenPlus: A comprehensive, multi-disorder newborn screeni..:

Kelly, Nicole R. ; Orsini, Joseph J. ; Goldenberg, Aaron J....
Molecular Genetics and Metabolism Reports.  38 (2024)  - p. 101037 , 2024
 
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12

ScreenPlus: A comprehensive, multi-disorder newborn screeni..:

Nicole R. Kelly ; Joseph J. Orsini ; Aaron J. Goldenberg...
http://www.sciencedirect.com/science/article/pii/S2214426923000836.  , 1481
 
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14

Prenatal Diagnosis of dup(3q) syndrome:

Barrett, S.K. ; Kupchik, G.S. ; Rosa, D....
Genetics in Medicine.  1 (1999)  2 - p. 52 , 1999
 
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