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Claude Besmond

Showing results (11-20 of 41) with videos related to

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Mammalian Genome : Official Journal of the International Mammalian Genome Society|January 18, 2003
Characterization of a putative type IV aminophospholipid transporter P-type ATPaseStéphane Flamant, Pascale Pescher, Brigitte Lemercier, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 22, 2021
Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!Alexandre Raynor, Catherine Vincent-Delorme, Anne-Sophie Alaix, et al.
European Journal of Medical Genetics|October 18, 2024
Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisalGiulia Barcia, Giovanna Scorrano, Marlène Rio, et al.
Neurogenetics|September 20, 2015
Recurrent KIF5C mutation leading to frontal pachygyria without microcephalyMara Cavallin, Laurence Hubert, Vincent Cantagrel, et al.
Journal of Medical Genetics|August 24, 2019
<i>De novo</i> SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizuresLaurence Hubert, Magda Cannata Serio, Laure Villoing-Gaudé, et al.
American Journal of Medical Genetics. Part A|July 12, 2005
Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomalyMathieu Clément-Ziza, Naziha Khen, Jacques Gonzales, et al.
European Journal of Medical Genetics|October 1, 2018
Mutations in TBR1 gene leads to cortical malformations and intellectual disabilityNancy Vegas, Mara Cavallin, Tjitske Kleefstra, et al.
Neurogenetics|October 12, 2016
Mosaicism in ATP1A3-related disorders: not just a theoretical riskMarie Hully, Juliette Ropars, Laurence Hubert, et al.
Neuromuscular Disorders : NMD|July 14, 2020
Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiencyGiulia Barcia, Sonia Khirani, Alessandro Amaddeo, et al.
Psychiatric Genetics|April 2, 2019
Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndromeCaroline Demily, Charlyne Duwime, Clémence Lopez, et al.
Pageof 5

Showing results (11-20 of 41) with videos related to

Sort By:
Pageof 5
Mammalian Genome : Official Journal of the International Mammalian Genome Society|January 18, 2003
Characterization of a putative type IV aminophospholipid transporter P-type ATPaseStéphane Flamant, Pascale Pescher, Brigitte Lemercier, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 22, 2021
Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!Alexandre Raynor, Catherine Vincent-Delorme, Anne-Sophie Alaix, et al.
European Journal of Medical Genetics|October 18, 2024
Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisalGiulia Barcia, Giovanna Scorrano, Marlène Rio, et al.
Neurogenetics|September 20, 2015
Recurrent KIF5C mutation leading to frontal pachygyria without microcephalyMara Cavallin, Laurence Hubert, Vincent Cantagrel, et al.
Journal of Medical Genetics|August 24, 2019
<i>De novo</i> SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizuresLaurence Hubert, Magda Cannata Serio, Laure Villoing-Gaudé, et al.
American Journal of Medical Genetics. Part A|July 12, 2005
Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomalyMathieu Clément-Ziza, Naziha Khen, Jacques Gonzales, et al.
European Journal of Medical Genetics|October 1, 2018
Mutations in TBR1 gene leads to cortical malformations and intellectual disabilityNancy Vegas, Mara Cavallin, Tjitske Kleefstra, et al.
Neurogenetics|October 12, 2016
Mosaicism in ATP1A3-related disorders: not just a theoretical riskMarie Hully, Juliette Ropars, Laurence Hubert, et al.
Neuromuscular Disorders : NMD|July 14, 2020
Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiencyGiulia Barcia, Sonia Khirani, Alessandro Amaddeo, et al.
Psychiatric Genetics|April 2, 2019
Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndromeCaroline Demily, Charlyne Duwime, Clémence Lopez, et al.
Pageof 5