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Showing results (81-90 of 110) with videos related to

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American Journal of Medical Genetics|November 15, 2000
Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?S Briault, L Villard, U Rogner, et al.
Journal of Medical Genetics|October 4, 2005
Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotypeC Bendavid, B R Haddad, A Griffin, et al.
Journal of Medical Genetics|May 4, 2004
Embryonic expression of the human MID1 gene and its mutations in Opitz syndromeL Pinson, J Augé, S Audollent, et al.
Molecular Genetics and Metabolism Reports|April 17, 2025
The recurrent p.Glu3Lys variant in <i>EHHADH</i> is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalitiesP Rollier, A Cospain, M Barth, et al.
Annals of Neurology|November 18, 2000
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 casesA Ferreiro, B Estournet, D Chateau, et al.
Molecular Syndromology|April 10, 2014
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 DeletionsC Dubourg, F Bonnet-Brilhault, A Toutain, 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.
Human Mutation|September 23, 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber, C Martin, N Le Meur, et al.
European Journal of Medical Genetics|March 22, 2023
Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samplesL Mary, M Fradin, L Pasquier, et al.
American Journal of Medical Genetics. Part A|July 3, 2003
Perinatal-lethal Gaucher diseaseC Mignot, A Gelot, B Bessières, et al.
Pageof 11

Showing results (81-90 of 110) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics|November 15, 2000
Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?S Briault, L Villard, U Rogner, et al.
Journal of Medical Genetics|October 4, 2005
Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotypeC Bendavid, B R Haddad, A Griffin, et al.
Journal of Medical Genetics|May 4, 2004
Embryonic expression of the human MID1 gene and its mutations in Opitz syndromeL Pinson, J Augé, S Audollent, et al.
Molecular Genetics and Metabolism Reports|April 17, 2025
The recurrent p.Glu3Lys variant in <i>EHHADH</i> is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalitiesP Rollier, A Cospain, M Barth, et al.
Annals of Neurology|November 18, 2000
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 casesA Ferreiro, B Estournet, D Chateau, et al.
Molecular Syndromology|April 10, 2014
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 DeletionsC Dubourg, F Bonnet-Brilhault, A Toutain, 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.
Human Mutation|September 23, 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber, C Martin, N Le Meur, et al.
European Journal of Medical Genetics|March 22, 2023
Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samplesL Mary, M Fradin, L Pasquier, et al.
American Journal of Medical Genetics. Part A|July 3, 2003
Perinatal-lethal Gaucher diseaseC Mignot, A Gelot, B Bessières, et al.
Pageof 11