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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 23, 2020
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome
Perrine Pennamen, Linh Le, Angèle Tingaud-Sequeira, et al.
BMC Medical Genetics
|
May 9, 2008
New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation
Denis Pierron, Christophe Rocher, Patricia Amati-Bonneau, et al.
International Journal of Molecular Sciences
|
August 29, 2024
Functional Characterization of Splice Variants in the Diagnosis of Albinism
Modibo Diallo, Cécile Courdier, Elina Mercier, et al.
American Journal of Medical Genetics. Part A
|
May 1, 2014
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity
Marie-Laure Vuillaume, Sophie Naudion, Guillaume Banneau, et al.
Ophthalmic Epidemiology
|
January 29, 2013
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management
Beatrice Bocquet, Annie Lacroux, Marie-Odile Surget, et al.
American Journal of Medical Genetics. Part A
|
June 9, 2012
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
Gaelle Thierry, Claire Bénéteau, Olivier Pichon, et al.
Journal of Human Genetics
|
May 20, 2016
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum
Sébastien Moutton, Patricia Fergelot, Sophie Naudion, et al.
Ophthalmology
|
February 14, 2022
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study
Helen J Kuht, Gail D E Maconachie, Jinu Han, et al.
Journal of Medical Genetics
|
May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrum
Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.
Journal of Medical Genetics
|
June 7, 2024
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective
Silvestre Cuinat, Chloé Quélin, Claire Effray, et al.
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of 9
Search research articles
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Showing results (71-80 of 82) with videos related to
Sort By:
Page
of 9
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 23, 2020
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome
Perrine Pennamen, Linh Le, Angèle Tingaud-Sequeira, et al.
BMC Medical Genetics
|
May 9, 2008
New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation
Denis Pierron, Christophe Rocher, Patricia Amati-Bonneau, et al.
International Journal of Molecular Sciences
|
August 29, 2024
Functional Characterization of Splice Variants in the Diagnosis of Albinism
Modibo Diallo, Cécile Courdier, Elina Mercier, et al.
American Journal of Medical Genetics. Part A
|
May 1, 2014
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity
Marie-Laure Vuillaume, Sophie Naudion, Guillaume Banneau, et al.
Ophthalmic Epidemiology
|
January 29, 2013
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management
Beatrice Bocquet, Annie Lacroux, Marie-Odile Surget, et al.
American Journal of Medical Genetics. Part A
|
June 9, 2012
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
Gaelle Thierry, Claire Bénéteau, Olivier Pichon, et al.
Journal of Human Genetics
|
May 20, 2016
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum
Sébastien Moutton, Patricia Fergelot, Sophie Naudion, et al.
Ophthalmology
|
February 14, 2022
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study
Helen J Kuht, Gail D E Maconachie, Jinu Han, et al.
Journal of Medical Genetics
|
May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrum
Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.
Journal of Medical Genetics
|
June 7, 2024
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective
Silvestre Cuinat, Chloé Quélin, Claire Effray, et al.
Page
of 9