Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation‐negative patient with clinically diagnosed Alagille syndrome

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 4, 2015-04 ,pp. : 891-893

John Wiley & Sons Inc

Access to resources Recommend Favorite

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

By Campeau Philippe M.   Lu James T.   Sule Gautam   Jiang Ming-Ming   Bae Yangjin   Madan Simran   Högler Wolfgang   Shaw Nicholas J.   Mumm Steven   Gibbs Richard A.   Whyte Michael P.   Lee Brendan H.  

Human Molecular Genetics, Vol. 21, Iss. 22, 2012-11 ,pp. : 4904-4909

Oxford University Press

Access to resources Recommend Favorite

Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA

By  

Molecular Syndromology, Vol. 4, Iss. 4, 2013-02 ,pp. : 207-210

Karger

Access to resources Recommend Favorite

Atypical fibrodysplasia ossificans progressiva diagnosed by whole‐exome sequencing

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 6, 2015-06 ,pp. : 1337-1341

John Wiley & Sons Inc

Access to resources Recommend Favorite

Improved inherited peripheral neuropathy genetic diagnosis by whole‐exome sequencing

By  

Molecular Genetics & Genomic Medicine, Vol. 3, Iss. 2, 2015-03 ,pp. : 143-154

John Wiley & Sons Inc

Access to resources Recommend Favorite