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Showing results (41-50 of 47) with videos related to

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American Journal of Medical Genetics. Part A|July 9, 2011
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS)David L Skidmore, David Chitayat, Tim Morgan, et al.
Clinical Genetics|March 18, 2008
Family history as a predictor of uptake of cancer preventive procedures by women with a BRCA1 or BRCA2 mutationK A Metcalfe, W D Foulkes, C Kim-Sing, et al.
Open Medicine : a Peer-Reviewed, Independent, Open-Access Journal|January 27, 2010
Variation in rates of uptake of preventive options by Canadian women carrying the BRCA1 or BRCA2 genetic mutationKelly A Metcalfe, Parviz Ghadirian, Barry Rosen, et al.
American Journal of Medical Genetics. Part A|December 4, 2004
A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3Ryan E Lamont, Jc Loredo-Osti, Nicole M Roslin, et al.
American Journal of Human Genetics|May 15, 2012
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndromeDan Doherty, Albert E Chudley, Gail Coghlan, et al.
Nature Communications|July 23, 2014
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndromeDanielle C Lynch, Timothée Revil, Jeremy Schwartzentruber, et al.
Genome Research|June 21, 2017
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndromeGilad D Evrony, Dwight R Cordero, Jun Shen, et al.
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Showing results (41-50 of 47) with videos related to

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Pageof 5
You have reached the last page of results.This site can display upto 47 results.
American Journal of Medical Genetics. Part A|July 9, 2011
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS)David L Skidmore, David Chitayat, Tim Morgan, et al.
Clinical Genetics|March 18, 2008
Family history as a predictor of uptake of cancer preventive procedures by women with a BRCA1 or BRCA2 mutationK A Metcalfe, W D Foulkes, C Kim-Sing, et al.
Open Medicine : a Peer-Reviewed, Independent, Open-Access Journal|January 27, 2010
Variation in rates of uptake of preventive options by Canadian women carrying the BRCA1 or BRCA2 genetic mutationKelly A Metcalfe, Parviz Ghadirian, Barry Rosen, et al.
American Journal of Medical Genetics. Part A|December 4, 2004
A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3Ryan E Lamont, Jc Loredo-Osti, Nicole M Roslin, et al.
American Journal of Human Genetics|May 15, 2012
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndromeDan Doherty, Albert E Chudley, Gail Coghlan, et al.
Nature Communications|July 23, 2014
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndromeDanielle C Lynch, Timothée Revil, Jeremy Schwartzentruber, et al.
Genome Research|June 21, 2017
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndromeGilad D Evrony, Dwight R Cordero, Jun Shen, et al.
Pageof 5