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Patrick Rump

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Nature Genetics|December 20, 2016

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaEsther Meyer, Keren J Carss, Julia Rankin, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2019

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiencyAsh Zawerton, Cyril Mignot, Ashley Sigafoos, et al.

Nature Genetics|August 15, 2017

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephalyDaniela A Braun, Jia Rao, Geraldine Mollet, et al.

Nature Genetics|November 15, 2016

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomaliesClaire Redin, Harrison Brand, Ryan L Collins, et al.

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Search research articles

Showing results (51-60 of 54) with videos related to

Sort By:

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You have reached the last page of results.This site can display upto 54 results.

Nature Genetics|December 20, 2016

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaEsther Meyer, Keren J Carss, Julia Rankin, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2019

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiencyAsh Zawerton, Cyril Mignot, Ashley Sigafoos, et al.

Nature Genetics|August 15, 2017

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephalyDaniela A Braun, Jia Rao, Geraldine Mollet, et al.

Nature Genetics|November 15, 2016

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomaliesClaire Redin, Harrison Brand, Ryan L Collins, et al.

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