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Claude Besmond

Showing results (21-30 of 41) with videos related to

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Medecine Sciences : M/S|December 18, 2019
[Twenty years of on-site clinical genetics consultations for people with ASD]Arnold Munnich, Caroline Demily, Lisa Frugère, et al.
Haematologica|December 17, 2020
Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemiaGiulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, et al.
Molecular Autism|August 14, 2019
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorderArnold Munnich, Caroline Demily, Lisa Frugère, et al.
Orphanet Journal of Rare Diseases|December 3, 2013
Pathways systematically associated to Hirschsprung's diseaseRaquel M Fernández, Marta Bleda, Berta Luzón-Toro, et al.
Journal of Medical Genetics|October 30, 2014
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophyMetodi Dimitrov Metodiev, Sylvie Gerber, Laurence Hubert, et al.
Human Molecular Genetics|December 28, 2016
Mutations in BOREALIN cause thyroid dysgenesisAurore Carré, Athanasia Stoupa, Dulanjalee Kariyawasam, et al.
Journal of Medical Genetics|January 24, 2018
High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiencyIsaure de Beaurepaire, David Grévent, Marlène Rio, et al.
The Journal of Clinical Investigation|November 9, 2023
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disordersHuilun H Wang, Liangguang L Lin, Zexin J Li, et al.
Journal of Medical Genetics|November 17, 2020
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?Alessandra Pennisi, Agnès Rötig, Charles-Joris Roux, et al.
Brain : a Journal of Neurology|April 30, 2019
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizuresSnezana Maljevic, Boris Keren, Ye Htet Aung, et al.
Pageof 5

Showing results (21-30 of 41) with videos related to

Sort By:
Pageof 5
Medecine Sciences : M/S|December 18, 2019
[Twenty years of on-site clinical genetics consultations for people with ASD]Arnold Munnich, Caroline Demily, Lisa Frugère, et al.
Haematologica|December 17, 2020
Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemiaGiulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, et al.
Molecular Autism|August 14, 2019
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorderArnold Munnich, Caroline Demily, Lisa Frugère, et al.
Orphanet Journal of Rare Diseases|December 3, 2013
Pathways systematically associated to Hirschsprung's diseaseRaquel M Fernández, Marta Bleda, Berta Luzón-Toro, et al.
Journal of Medical Genetics|October 30, 2014
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophyMetodi Dimitrov Metodiev, Sylvie Gerber, Laurence Hubert, et al.
Human Molecular Genetics|December 28, 2016
Mutations in BOREALIN cause thyroid dysgenesisAurore Carré, Athanasia Stoupa, Dulanjalee Kariyawasam, et al.
Journal of Medical Genetics|January 24, 2018
High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiencyIsaure de Beaurepaire, David Grévent, Marlène Rio, et al.
The Journal of Clinical Investigation|November 9, 2023
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disordersHuilun H Wang, Liangguang L Lin, Zexin J Li, et al.
Journal of Medical Genetics|November 17, 2020
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?Alessandra Pennisi, Agnès Rötig, Charles-Joris Roux, et al.
Brain : a Journal of Neurology|April 30, 2019
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizuresSnezana Maljevic, Boris Keren, Ye Htet Aung, et al.
Pageof 5