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Journal of Medical Genetics Journal Impact Factor 2013
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Journal of Medical Genetics Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of...
Incidental findings ► Public Health Genomics Knowledge Base (v1.0)
via elbiruniblogspotcom.blogspot

Public Health Genomics Knowledge Base (v1.0) Incidental findings Last Updated: May 26, 2016 DECIDE: a Decision Support Tool to Facilitate Parents' Choices Regarding Genome-Wide Sequencing. Birch Patricia et al. Journal of genetic counseling 2016 May...
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-f...
via eprints.whiterose

Balasubramanian, M. orcid.org/0000-0003-1488-3695 , Willoughby, J., Fry, A.E. et al. (10 more authors) (2017) Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in...
Bioinformatics at ESHG
via ingenuity

The European Human Genetics Conference 2016 is taking place in Barcelona, Spain, on May 21-24. We’ll be there and we have prepared a number of scientific activities to take place. ESHG has become one of the premier events in the field of human genetics...
Uncovering Clues to the Genetic Cause of Schizophrenia
via technology

A closer look at severe loss-of-function mutations revealed the contribution of both inherited (yellow pieces) and new (red piece) mutations to the puzzling genetic architecture of schizophrenia. Image Credit: Lab of Maria Karayiorgou, MD, and Joseph...

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Homepage | Journal of Medical Genetics

A human genetics journal publishing original research, reviews and opinions on the latest developments. Articles cover the molecular basis of human disease.
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

Background Microcephaly with nephrotic syndrome is a rare co-occurrence, constituting the Galloway-Mowat syndrome (GAMOS), caused by mutations in WDR73 (OMIM: 616144). However, not all patients harbou...

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans | Journal of

Background Congenital anomalies of the kidney and urinary tract (CAKUT) represent a significant healthcare burden since it is the primary cause of chronic kidney in children. CNVs represent a recurren...