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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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Raphael Schiffmann

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Nature Genetics|January 24, 2012

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plusBeverley H Anderson, Paul R Kasher, Josephine Mayer, et al.

Nature Genetics|February 1, 2017

Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cystsEmma M Jenkinson, Mathieu P Rodero, Paul R Kasher, et al.

Nature Genetics|August 30, 2016

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cystsEmma M Jenkinson, Mathieu P Rodero, Paul R Kasher, et al.

American Journal of Human Genetics|September 12, 2007

Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian Rice, Teresa Patrick, Rekha Parmar, et al.

The Journal of Clinical Endocrinology and Metabolism|October 2, 2020

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1CFélixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.

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Search research articles

Showing results (221-230 of 225) with videos related to

Sort By:

Pageof 23

You have reached the last page of results.This site can display upto 225 results.

Nature Genetics|January 24, 2012

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plusBeverley H Anderson, Paul R Kasher, Josephine Mayer, et al.

Nature Genetics|February 1, 2017

Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cystsEmma M Jenkinson, Mathieu P Rodero, Paul R Kasher, et al.

Nature Genetics|August 30, 2016

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cystsEmma M Jenkinson, Mathieu P Rodero, Paul R Kasher, et al.

American Journal of Human Genetics|September 12, 2007

Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian Rice, Teresa Patrick, Rekha Parmar, et al.

The Journal of Clinical Endocrinology and Metabolism|October 2, 2020

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1CFélixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.

Pageof 23