Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies

By  

American Journal Of Medical Genetics Part A, Vol. 176, Iss. 2, 2018-02 ,pp. : 438-442

John Wiley & Sons Inc

Access to resources Recommend Favorite

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression

By Baradaran-Heravi Alireza   Cho Kyoung Sang   Tolhuis Bas   Sanyal Mrinmoy   Morozova Olena   Morimoto Marie   Elizondo Leah I.   Bridgewater Darren   Lubieniecka Joanna   Beirnes Kimberly   Myung Clara   Leung Danny   Fam Hok Khim   Choi Kunho   Huang Yan   Dionis Kira Y.   Zonana Jonathan   Keller Kory   Stenzel Peter   Mayfield Christy   Lücke Thomas   Bokenkamp Arend   Marra Marco A.   van Lohuizen Maarten   Lewis David B.   Shaw Chad   Boerkoel Cornelius F.  

Human Molecular Genetics, Vol. 21, Iss. 11, 2012-06 ,pp. : 2572-2587

Oxford University Press

Access to resources Recommend Favorite

Estimating the number of coding mutations in genotypic and phenotypic driven N -ethyl- N -nitrosourea (ENU) screens: revisited

By Keays David   Clark Taane   Campbell Thomas   Broxholme John   Valdar William  

Mammalian Genome, Vol. 18, Iss. 2, 2007-02 ,pp. : 123-124

Springer Publishing Company

Access to resources Recommend Favorite

Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 11, 2015-11 ,pp. : 2497-2502

John Wiley & Sons Inc

Access to resources Recommend Favorite

Elsahy–Waters syndrome is caused by biallelic mutations in CDH11

By  

American Journal Of Medical Genetics Part A, Vol. 176, Iss. 2, 2018-02 ,pp. : 477-482

John Wiley & Sons Inc

Access to resources Recommend Favorite