Bramswig, N.C
48  Ergebnisse:
Personensuche X
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3

PHIP-associated Chung-Jansen syndrome: Report of 23 new ind..:

Kampmeier, Antje ; Leitão, Elsa ; Parenti, Ilaria...
Frontiers in Cell and Developmental Biology.  10 (2023)  - p. , 2023
 
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4

Heterozygous rare variants in NR2F2 cause a recognizable mu..:

Ganapathi, Mythily ; Matsuoka, Leticia S. ; March, Michael...
European Journal of Human Genetics.  31 (2023)  10 - p. 1117-1124 , 2023
 
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6

Episignature Mapping of TRIP12 Provides Functional Insight ..:

van der Laan, Liselot ; Rooney, Kathleen ; Alders, Mariëlle...
International Journal of Molecular Sciences.  23 (2022)  22 - p. 13664 , 2022
 
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9

Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With..:

Munteanu, Martin ; Kiewert, Cordula ; Matar, Nora...
Journal of the Endocrine Society.  3 (2019)  7 - p. 1383-1389 , 2019
 
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13

Elucidating the genetic architecture of Adams–Oliver syndro..:

Meester, Josephina A.N ; Sukalo, Maja ; Schröder, Kim C...
Meester , J A N , Sukalo , M , Schröder , K C , Schanze , D , Baynam , G , Borck , G , Bramswig , N C , Duman , D , Gilbert-Dussardier , B , Holder-Espinasse , M , Itin , P , Johnson , D S , Joss , S , Koillinen , H , McKenzie , F , Morton , J , Nelle , H , Reardon , W , Roll , C , Salih , M A , Savarirayan , R , Scurr , I , Splitt , M , Thompson , E , Titheradge , H , Travers , C P , Van Maldergem , L , Whiteford , M , Wieczorek , D , Vandeweyer , G , Trembath , R , Van Laer , L , Loeys , B L , Zenker , M , Southgate , L & Wuyts , W 2018 , ' Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort ' , Human Mutation , vol. 39 , no. 9 , pp. 1246-1261 . https://doi.org/10.1002/humu.23567.  , 2018
 
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14

Elucidating the genetic architecture of Adams–Oliver syndro..:

Meester, Josephina A.N ; Sukalo, Maja ; Schröder, Kim C...
Meester , J A N , Sukalo , M , Schröder , K C , Schanze , D , Baynam , G , Borck , G , Bramswig , N C , Duman , D , Gilbert-Dussardier , B , Holder-Espinasse , M , Itin , P , Johnson , D S , Joss , S , Koillinen , H , McKenzie , F , Morton , J , Nelle , H , Reardon , W , Roll , C , Salih , M A , Savarirayan , R , Scurr , I , Splitt , M , Thompson , E , Titheradge , H , Travers , C P , Van Maldergem , L , Whiteford , M , Wieczorek , D , Vandeweyer , G , Trembath , R , Van Laer , L , Loeys , B L , Zenker , M , Southgate , L & Wuyts , W 2018 , ' Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort ' , Human Mutation , vol. 39 , no. 9 , pp. 1246-1261 . https://doi.org/10.1002/humu.23567.  , 2018
 
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15

Mutations in the BAF-complex subunit DPF2 are associated wi..:

Vasileiou, G ; Vergarajauregui, S ; Endele, S...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2018.01.014.  , 2018
 
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