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Overview Leadership Blog JoVE Help Center

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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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Testimonials Subscriptions Access Resources Library Advisory Board FAQ

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JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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G V Raymond

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Clinical Genetics|August 30, 2016

De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in femalesR Webster, M T Cho, K Retterer, et al.

Journal of Inherited Metabolic Disease|January 8, 2009

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblastsS J Steinberg, A Snowden, N E Braverman, et al.

The Journal of Clinical Investigation|December 26, 2001

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type IfB Schenk, T Imbach, C G Frank, et al.

Neurology|May 30, 2002

Molecular findings in symptomatic and pre-symptomatic Alexander disease patientsJ R Gorospe, S Naidu, A B Johnson, et al.

Molecular Genetics and Metabolism|March 1, 2015

Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelinesB H Vogel, S E Bradley, D J Adams, et al.

The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|November 5, 1997

Testing for interaction between maternal smoking and TGFA genotype among oral cleft cases born in Maryland 1992-1996T H Beaty, N E Maestri, J B Hetmanski, et al.

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Search research articles

Showing results (41-50 of 46) with videos related to

Sort By:

Pageof 5

You have reached the last page of results.This site can display upto 46 results.

Clinical Genetics|August 30, 2016

De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in femalesR Webster, M T Cho, K Retterer, et al.

Journal of Inherited Metabolic Disease|January 8, 2009

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblastsS J Steinberg, A Snowden, N E Braverman, et al.

The Journal of Clinical Investigation|December 26, 2001

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type IfB Schenk, T Imbach, C G Frank, et al.

Neurology|May 30, 2002

Molecular findings in symptomatic and pre-symptomatic Alexander disease patientsJ R Gorospe, S Naidu, A B Johnson, et al.

Molecular Genetics and Metabolism|March 1, 2015

Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelinesB H Vogel, S E Bradley, D J Adams, et al.

The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|November 5, 1997

Testing for interaction between maternal smoking and TGFA genotype among oral cleft cases born in Maryland 1992-1996T H Beaty, N E Maestri, J B Hetmanski, et al.

Pageof 5