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Showing results (41-50 of 54) with videos related to

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Prenatal Diagnosis|March 12, 1999
Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literatureL Faivre, N Morichon-Delvallez, G Viot, et al.
Human Molecular Genetics|March 1, 1996
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung diseaseJ Amiel, T Attié, D Jan, et al.
Archives of Disease in Childhood|January 24, 2006
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assaysL Pasquier, V Laugel, L Lazaro, et al.
Clinical Genetics|May 20, 2014
Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family historyK Nguyen, A Putoux, T Busa, et al.
Journal of Medical Genetics|June 17, 2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromesM Rio, L Clech, J Amiel, et al.
European Journal of Medical Genetics|July 3, 2019
Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectivesF Houdayer, O Putois, M L Babonneau, et al.
Journal of Medical Genetics|August 1, 2009
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) familiesM Willems, D Geneviève, G Borck, et al.
Clinical Genetics|July 4, 2015
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndromeS Dimassi, A Labalme, D Ville, et al.
Journal of Gynecology Obstetrics and Human Reproduction|April 14, 2017
Prenatal microarray comparative genomic hybridization: Experience from the two first years of activity at the Lyon university-hospitalL Pons, M Till, E Alix, et al.
Molecular Syndromology|May 9, 2013
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 MutationsM Alders, A Mendola, L Adès, et al.
Pageof 6

Showing results (41-50 of 54) with videos related to

Sort By:
Pageof 6
Prenatal Diagnosis|March 12, 1999
Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literatureL Faivre, N Morichon-Delvallez, G Viot, et al.
Human Molecular Genetics|March 1, 1996
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung diseaseJ Amiel, T Attié, D Jan, et al.
Archives of Disease in Childhood|January 24, 2006
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assaysL Pasquier, V Laugel, L Lazaro, et al.
Clinical Genetics|May 20, 2014
Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family historyK Nguyen, A Putoux, T Busa, et al.
Journal of Medical Genetics|June 17, 2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromesM Rio, L Clech, J Amiel, et al.
European Journal of Medical Genetics|July 3, 2019
Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectivesF Houdayer, O Putois, M L Babonneau, et al.
Journal of Medical Genetics|August 1, 2009
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) familiesM Willems, D Geneviève, G Borck, et al.
Clinical Genetics|July 4, 2015
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndromeS Dimassi, A Labalme, D Ville, et al.
Journal of Gynecology Obstetrics and Human Reproduction|April 14, 2017
Prenatal microarray comparative genomic hybridization: Experience from the two first years of activity at the Lyon university-hospitalL Pons, M Till, E Alix, et al.
Molecular Syndromology|May 9, 2013
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 MutationsM Alders, A Mendola, L Adès, et al.
Pageof 6