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Denise Williams

Showing results (91-100 of 95) with videos related to

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Lancet (London, England)|February 5, 2019
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort studyJenny Lord, Dominic J McMullan, Ruth Y Eberhardt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 23, 2020
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndromeGerarda Cappuccio, Camille Sayou, Pauline Le Tanno, et al.
Nature Genetics|January 10, 2017
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentChristopher T Gordon, Shifeng Xue, Gökhan Yigit, et al.
Plos One|April 29, 2016
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeMorad Ansari, Jacqueline Rainger, Isabel M Hanson, et al.
Nature Genetics|August 2, 2016
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencingAlejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, et al.
Pageof 10

Showing results (91-100 of 95) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 95 results.
Lancet (London, England)|February 5, 2019
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort studyJenny Lord, Dominic J McMullan, Ruth Y Eberhardt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 23, 2020
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndromeGerarda Cappuccio, Camille Sayou, Pauline Le Tanno, et al.
Nature Genetics|January 10, 2017
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentChristopher T Gordon, Shifeng Xue, Gökhan Yigit, et al.
Plos One|April 29, 2016
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeMorad Ansari, Jacqueline Rainger, Isabel M Hanson, et al.
Nature Genetics|August 2, 2016
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencingAlejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, et al.
Pageof 10