McWalter, Kirsty M.
~ 200  Ergebnisse:
Personensuche X
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2

Hemoglobinopathy Newborn Screening Knowledge of Physicians:

McWalter, Kirsty M. ; White, Elaine M. ; Hayes, Donald K..
American Journal of Preventive Medicine.  41 (2011)  6 - p. S384-S389 , 2011
 
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4

An autosomal dominant neurological disorder caused by de no..:

Ferdinandusse, Sacha ; McWalter, Kirsty ; te Brinke, Heleen...
Ferdinandusse , S , McWalter , K , te Brinke , H , IJlst , L , Mooijer , P M , Ruiter , J P N , van Lint , A E M , Pras-Raves , M , Wever , E , Millan , F , Guillen Sacoto , M J , Begtrup , A , Tarnopolsky , M , Brady , L , Ladda , R L , Sell , S L , Nowak , C B , Douglas , J , Tian , C , Ulm , E , Perlman , S , Drack , A V , Chong , K , Martin , N , Brault , J , Brokamp , E , Toro , C , Gahl , W A , Macnamara , E F , Wolfe , L A , Alejandro , M E , Azamian , M S , Bacino , C A , Balasubramanyam , A , Burrage , L C , Chao , H T , Clark , G D , Craigen , W J , Dai , H , Dhar , S U , Emrick , L T , Goldman , A M , Hanchard , N A , Jamal , F , Karaviti , L , Lalani , S R , Lee , B H , Lewis , R A , Marom , R , Moretti , P , Murdock , D R , Nicholas , S K , Orengo , J P , Posey , J E , Potocki , L , Rosenfeld , J A , Samson , S L , Scott , D A , Tran , A A , Vogel , T P , Wangler , M F , Yamamoto , S , Eng , C M , Liu , P , Ward , P A , Behrens , E , Deardorff , M , Falk , M ,....  , 2020
 
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6

Variants in PHF8 cause a spectrum of X-linked neurodevelopm..:

Sobering, Andrew K. ; Bryant, Laura M. ; Li, Dong...
Human Genetics and Genomics Advances.  4 (2023)  1 - p. 100168 , 2023
 
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7

Shifts in the genetic counseling workforce highlight a need..:

Hart, Tara R. ; Ahmed, Sohnee ; Byrne, Robyn...
Journal of Genetic Counseling.  32 (2023)  6 - p. 1194-1199 , 2023
 
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8

Variants in PHF8 cause a spectrum of X-linked neurodevelopm..:

Sobering, Andrew K. ; Bryant, Laura M. ; Li, Dong...
Human Genetics and Genomics Advances.  3 (2022)  3 - p. 100102 , 2022
 
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9

Rare germline heterozygous missense variants in BRCA1-assoc..:

Küry, Sébastien ; Ebstein, Frédéric ; Mollé, Alice...
The American Journal of Human Genetics.  109 (2022)  2 - p. 361-372 , 2022
 
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14

AHDC1 missense mutations in Xia-Gibbs syndrome:

Khayat, Michael M. ; Hu, Jianhong ; Jiang, Yunyun...
Human Genetics and Genomics Advances.  2 (2021)  4 - p. 100049 , 2021
 
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