Novel homozygous mutation in KPTN gene causing a familial intellectual disability‐macrocephaly syndrome

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 8, 2015-08 ,pp. : 1913-1915

John Wiley & Sons Inc

Access to resources Recommend Favorite

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next‐generation sequencing causes CK syndrome

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 6, 2015-06 ,pp. : 1342-1348

John Wiley & Sons Inc

Access to resources Recommend Favorite

A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion

By  

American Journal Of Medical Genetics Part A, Vol. 176, Iss. 2, 2018-02 ,pp. : 330-336

John Wiley & Sons Inc

Access to resources Recommend Favorite

First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability

By Shimada Hiroyuki   Shimizu Kimiko   Mimaki Sachiyo   Sakiyama Tokuki   Mori Tetsuya   Shimasaki Noriko   Yokota Jun   Nakachi Kei   Ohta Tsutomu   Ohki Misao  

Human Genetics, Vol. 115, Iss. 5, 2004-10 ,pp. : 372-376

Springer Publishing Company

Access to resources Recommend Favorite

The recently identified type 2A juvenile haemochromatosis gene ( HJV ), a second candidate modifier of the C282Y homozygous phenotype

By Le Gac Gérald  

Human Molecular Genetics, Vol. 13, Iss. 17, 2004-09 ,pp. : 1913-1918

Oxford University Press

Access to resources Recommend Favorite