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Showing results (651-660 of 669) with videos related to

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Journal of Medical Genetics|November 1, 2022
New insights into <i>CC2D2A</i>-related Joubert syndromeMadeleine Harion, Leila Qebibo, Audrey Riquet, et al.
Human Mutation|January 16, 2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan P M de Brouwer, Helger G Yntema, Tjitske Kleefstra, et al.
Brain : a Journal of Neurology|September 4, 2025
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomaliesDelphine Héron, Anna Gerasimenko, Lisa Frugère, et al.
Orphanet Journal of Rare Diseases|February 18, 2014
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxiaAurore Curie, Tatjana Nazir, Amandine Brun, et al.
Clinical Genetics|October 21, 2016
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?S El Chehadeh, R Touraine, F Prieur, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2020
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineationSolveig Heide, Myrtille Spentchian, Stéphanie Valence, et al.
Reumatologia Clinica|May 20, 2019
Update of the Mexican College of Rheumatology Guidelines for the Pharmacological Treatment of Rheumatoid Arthritis, 2018Mario H Cardiel, Sandra Carrillo, Marcela Pérez, et al.
Brain : a Journal of Neurology|June 11, 2021
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrumClaudia M Bonardi, Henrike O Heyne, Martina Fiannacca, et al.
Arquivos De Neuro-Psiquiatria|October 17, 2022
Consensus of the Brazilian Headache Society (SBCe) for the Prophylactic Treatment of Episodic Migraine: part IEliana Meire Melhado, Paulo Sergio Faro Santos, Alexandre Ottoni Kaup, et al.
Arquivos De Neuro-Psiquiatria|October 18, 2022
Consensus of the Brazilian Headache Society (SBCe) for prophylactic treatment of episodic migraine: part IIPaulo Sergio Faro Santos, Eliana Meire Melhado, Alexandre Ottoni Kaup, et al.
Pageof 67

Showing results (651-660 of 669) with videos related to

Sort By:
Pageof 67
Journal of Medical Genetics|November 1, 2022
New insights into <i>CC2D2A</i>-related Joubert syndromeMadeleine Harion, Leila Qebibo, Audrey Riquet, et al.
Human Mutation|January 16, 2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan P M de Brouwer, Helger G Yntema, Tjitske Kleefstra, et al.
Brain : a Journal of Neurology|September 4, 2025
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomaliesDelphine Héron, Anna Gerasimenko, Lisa Frugère, et al.
Orphanet Journal of Rare Diseases|February 18, 2014
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxiaAurore Curie, Tatjana Nazir, Amandine Brun, et al.
Clinical Genetics|October 21, 2016
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?S El Chehadeh, R Touraine, F Prieur, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2020
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineationSolveig Heide, Myrtille Spentchian, Stéphanie Valence, et al.
Reumatologia Clinica|May 20, 2019
Update of the Mexican College of Rheumatology Guidelines for the Pharmacological Treatment of Rheumatoid Arthritis, 2018Mario H Cardiel, Sandra Carrillo, Marcela Pérez, et al.
Brain : a Journal of Neurology|June 11, 2021
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrumClaudia M Bonardi, Henrike O Heyne, Martina Fiannacca, et al.
Arquivos De Neuro-Psiquiatria|October 17, 2022
Consensus of the Brazilian Headache Society (SBCe) for the Prophylactic Treatment of Episodic Migraine: part IEliana Meire Melhado, Paulo Sergio Faro Santos, Alexandre Ottoni Kaup, et al.
Arquivos De Neuro-Psiquiatria|October 18, 2022
Consensus of the Brazilian Headache Society (SBCe) for prophylactic treatment of episodic migraine: part IIPaulo Sergio Faro Santos, Eliana Meire Melhado, Alexandre Ottoni Kaup, et al.
Pageof 67