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European Journal of Human Genetics : EJHG
|
May 28, 2024
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature
Vincent Milon, Marie-Claire Malinge, Maud Blanluet, et al.
Journal of Medical Genetics
|
October 2, 2024
Classification of <i>PTEN</i> germline non-truncating variants: a new approach to interpretation
Henri Margot, Natalie Jones, Thibaut Matis, et al.
The International Journal of Biochemistry & Cell Biology
|
May 31, 2015
Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency
Géraldine Leman, Naïg Gueguen, Valérie Desquiret-Dumas, et al.
Human Mutation
|
March 26, 2009
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations
Marc Ferré, Dominique Bonneau, Dan Milea, et al.
European Journal of Medical Genetics
|
June 4, 2011
Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling
Ali Houeijeh, Joris Andrieux, Pascale Saugier-Veber, et al.
Investigative Ophthalmology & Visual Science
|
June 12, 2019
Nicotinamide Deficiency in Primary Open-Angle Glaucoma
Judith Kouassi Nzoughet, Juan Manuel Chao de la Barca, Khadidja Guehlouz, et al.
Annals of Neurology
|
March 25, 2008
Reversible optic neuropathy with OPA1 exon 5b mutation
Karen Cornille, Dan Milea, Patrizia Amati-Bonneau, et al.
Journal of Medical Genetics
|
January 22, 2013
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
Virginie Bubien, Françoise Bonnet, Veronique Brouste, et al.
Scientific Reports
|
August 3, 2018
The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency
Cinzia Bocca, Mariame Selma Kane, Charlotte Veyrat-Durebex, et al.
The British Journal of Ophthalmology
|
November 26, 2018
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the <i>TYR</i> gene
Solene Monfermé, Eulalie Lasseaux, Catherine Duncombe-Poulet, et al.
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of 26
Search research articles
Search
Showing results (131-140 of 253) with videos related to
Sort By:
Page
of 26
European Journal of Human Genetics : EJHG
|
May 28, 2024
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature
Vincent Milon, Marie-Claire Malinge, Maud Blanluet, et al.
Journal of Medical Genetics
|
October 2, 2024
Classification of <i>PTEN</i> germline non-truncating variants: a new approach to interpretation
Henri Margot, Natalie Jones, Thibaut Matis, et al.
The International Journal of Biochemistry & Cell Biology
|
May 31, 2015
Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency
Géraldine Leman, Naïg Gueguen, Valérie Desquiret-Dumas, et al.
Human Mutation
|
March 26, 2009
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations
Marc Ferré, Dominique Bonneau, Dan Milea, et al.
European Journal of Medical Genetics
|
June 4, 2011
Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling
Ali Houeijeh, Joris Andrieux, Pascale Saugier-Veber, et al.
Investigative Ophthalmology & Visual Science
|
June 12, 2019
Nicotinamide Deficiency in Primary Open-Angle Glaucoma
Judith Kouassi Nzoughet, Juan Manuel Chao de la Barca, Khadidja Guehlouz, et al.
Annals of Neurology
|
March 25, 2008
Reversible optic neuropathy with OPA1 exon 5b mutation
Karen Cornille, Dan Milea, Patrizia Amati-Bonneau, et al.
Journal of Medical Genetics
|
January 22, 2013
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
Virginie Bubien, Françoise Bonnet, Veronique Brouste, et al.
Scientific Reports
|
August 3, 2018
The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency
Cinzia Bocca, Mariame Selma Kane, Charlotte Veyrat-Durebex, et al.
The British Journal of Ophthalmology
|
November 26, 2018
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the <i>TYR</i> gene
Solene Monfermé, Eulalie Lasseaux, Catherine Duncombe-Poulet, et al.
Page
of 26