A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing

Publisher： Karger

E-ISSN： 1661-8777|6|5|254-258

ISSN： 1661-8769

Source： Molecular Syndromology, Vol.6, Iss.5, 2015-0, pp. : 254-258

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

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

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

Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report

By  

Molecular Syndromology, Vol. 8, Iss. 5, 2017-07 ,pp. : 272-277

Karger

Access to resources Recommend Favorite

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

By  

Molecular Genetics & Genomic Medicine, Vol. 3, Iss. 4, 2015-07 ,pp. : 283-301

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