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John M Opitz

Showing results (91-100 of 116) with videos related to

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The Journal of Molecular Diagnostics : JMD|May 14, 2013
Molecular inversion probe array for the genetic evaluation of stillbirth using formalin-fixed, paraffin-embedded tissueLeslie R Rowe, Harshwardhan M Thaker, John M Opitz, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Elements of morphology: general terms for congenital anomaliesRaoul C Hennekam, Leslie G Biesecker, Judith E Allanson, et al.
Journal of Human Genetics|September 1, 2017
Santos syndrome is caused by mutation in the WNT7A geneLeandro U Alves, Silvana Santos, Camila M Musso, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 6, 2011
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndromeSarah B Pierce, Karen M Chisholm, Eric D Lynch, et al.
European Journal of Human Genetics : EJHG|July 9, 2004
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndromeMarcella Zollino, Rosetta Lecce, Angelo Selicorni, et al.
American Journal of Medical Genetics. Part A|November 12, 2005
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndromeFernanda Sarquis Jehee, Carla Rosenberg, Ana Cristina Krepischi-Santos, et al.
Scientific Reports|January 14, 2018
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C SyndromeRoser Urreizti, Sarah Damanti, Carla Esteve, et al.
American Journal of Human Genetics|August 3, 2010
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault SyndromeSarah B Pierce, Tom Walsh, Karen M Chisholm, et al.
Fetal and Pediatric Pathology|December 13, 2006
Mortality and pathological findings in C (Opitz trigonocephaly) syndromeJohn M Opitz, Angelica R Putnam, Jessica M Comstock, et al.
American Journal of Medical Genetics. Part A|October 30, 2016
Sudden infant death "syndrome"-Insights and future directions from a Utah population database analysisErik D Christensen, Justin Berger, Mouied M Alashari, et al.
Pageof 12

Showing results (91-100 of 116) with videos related to

Sort By:
Pageof 12
The Journal of Molecular Diagnostics : JMD|May 14, 2013
Molecular inversion probe array for the genetic evaluation of stillbirth using formalin-fixed, paraffin-embedded tissueLeslie R Rowe, Harshwardhan M Thaker, John M Opitz, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Elements of morphology: general terms for congenital anomaliesRaoul C Hennekam, Leslie G Biesecker, Judith E Allanson, et al.
Journal of Human Genetics|September 1, 2017
Santos syndrome is caused by mutation in the WNT7A geneLeandro U Alves, Silvana Santos, Camila M Musso, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 6, 2011
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndromeSarah B Pierce, Karen M Chisholm, Eric D Lynch, et al.
European Journal of Human Genetics : EJHG|July 9, 2004
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndromeMarcella Zollino, Rosetta Lecce, Angelo Selicorni, et al.
American Journal of Medical Genetics. Part A|November 12, 2005
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndromeFernanda Sarquis Jehee, Carla Rosenberg, Ana Cristina Krepischi-Santos, et al.
Scientific Reports|January 14, 2018
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C SyndromeRoser Urreizti, Sarah Damanti, Carla Esteve, et al.
American Journal of Human Genetics|August 3, 2010
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault SyndromeSarah B Pierce, Tom Walsh, Karen M Chisholm, et al.
Fetal and Pediatric Pathology|December 13, 2006
Mortality and pathological findings in C (Opitz trigonocephaly) syndromeJohn M Opitz, Angelica R Putnam, Jessica M Comstock, et al.
American Journal of Medical Genetics. Part A|October 30, 2016
Sudden infant death "syndrome"-Insights and future directions from a Utah population database analysisErik D Christensen, Justin Berger, Mouied M Alashari, et al.
Pageof 12