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Deborah Barbouth

Showing results (11-20 of 16) with videos related to

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Journal of Inherited Metabolic Disease|August 5, 2020
A founder noncoding GALT variant interfering with splicing causes galactosemiaKumarie Latchman, Jeanette Brown, Claire J Sineni, et al.
Molecular Cytogenetics|September 24, 2013
Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarrayYao-Shan Fan, Xiaomei Ouyang, Jinghong Peng, et al.
Journal of Neurodevelopmental Disorders|August 12, 2014
AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmissionCarolyn M Yrigollen, Loreto Martorell, Blythe Durbin-Johnson, et al.
American Journal of Medical Genetics. Part A|August 1, 2012
Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical regionEugen-Matthias Strehle, Linbo Yu, Jill A Rosenfeld, et al.
American Journal of Human Genetics|January 31, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderSébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2020
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, et al.
Pageof 2

Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
Journal of Inherited Metabolic Disease|August 5, 2020
A founder noncoding GALT variant interfering with splicing causes galactosemiaKumarie Latchman, Jeanette Brown, Claire J Sineni, et al.
Molecular Cytogenetics|September 24, 2013
Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarrayYao-Shan Fan, Xiaomei Ouyang, Jinghong Peng, et al.
Journal of Neurodevelopmental Disorders|August 12, 2014
AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmissionCarolyn M Yrigollen, Loreto Martorell, Blythe Durbin-Johnson, et al.
American Journal of Medical Genetics. Part A|August 1, 2012
Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical regionEugen-Matthias Strehle, Linbo Yu, Jill A Rosenfeld, et al.
American Journal of Human Genetics|January 31, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderSébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2020
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, et al.
Pageof 2