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Jessie H Conta

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Neuromuscular Disorders : NMD|February 5, 2014

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutationsStephanie E Wallace, Jessie H Conta, Thomas L Winder, et al.

Nature Genetics|July 15, 2009

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of FallotSteven C Greenway, Alexandre C Pereira, Jennifer C Lin, et al.

European Journal of Human Genetics : EJHG|August 27, 2015

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variantDavid A Koolen, Rolph Pfundt, Katrin Linda, et al.

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Search research articles

Showing results (11-20 of 13) with videos related to

Sort By:

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You have reached the last page of results.This site can display upto 13 results.

Neuromuscular Disorders : NMD|February 5, 2014

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutationsStephanie E Wallace, Jessie H Conta, Thomas L Winder, et al.

Nature Genetics|July 15, 2009

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of FallotSteven C Greenway, Alexandre C Pereira, Jennifer C Lin, et al.

European Journal of Human Genetics : EJHG|August 27, 2015

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variantDavid A Koolen, Rolph Pfundt, Katrin Linda, et al.

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