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Mark E Samuels

Showing results (51-60 of 56) with videos related to

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American Journal of Human Genetics|April 3, 2004
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic IsolatesRonald G Lafreniere, Marcia L E MacDonald, Marie-Pierre Dube, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 14, 2010
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophreniaJulie Gauthier, Nathalie Champagne, Ronald G Lafrenière, et al.
European Journal of Human Genetics : EJHG|February 16, 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosisSonja A de Munnik, Louise S Bicknell, Salim Aftimos, et al.
American Journal of Medical Genetics. Part A|October 2, 2012
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorderSonja A de Munnik, Barto J Otten, Jeroen Schoots, et al.
Neuron|October 22, 2013
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathyElizabeth K Ruzzo, José-Mario Capo-Chichi, Bruria Ben-Zeev, et al.
Genome Biology|March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A Brownstein, Alan H Beggs, Nils Homer, et al.
Pageof 6

Showing results (51-60 of 56) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 56 results.
American Journal of Human Genetics|April 3, 2004
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic IsolatesRonald G Lafreniere, Marcia L E MacDonald, Marie-Pierre Dube, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 14, 2010
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophreniaJulie Gauthier, Nathalie Champagne, Ronald G Lafrenière, et al.
European Journal of Human Genetics : EJHG|February 16, 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosisSonja A de Munnik, Louise S Bicknell, Salim Aftimos, et al.
American Journal of Medical Genetics. Part A|October 2, 2012
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorderSonja A de Munnik, Barto J Otten, Jeroen Schoots, et al.
Neuron|October 22, 2013
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathyElizabeth K Ruzzo, José-Mario Capo-Chichi, Bruria Ben-Zeev, et al.
Genome Biology|March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A Brownstein, Alan H Beggs, Nils Homer, et al.
Pageof 6