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Showing results (1331-1340 of 1,344) with videos related to
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European Heart Journal
|
March 22, 2021
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data
Raphaël Porcher, Isabelle Desguerre, Helge Amthor, et al.
Human Mutation
|
December 16, 2017
Autosomal recessive primary microcephaly due to ASPM mutations: An update
Pascaline Létard, Séverine Drunat, Yoann Vial, et al.
Critical Reviews in Food Science and Nutrition
|
December 9, 2014
Inventory on the dietary assessment tools available and needed in africa: a prerequisite for setting up a common methodological research infrastructure for nutritional surveillance, research, and prevention of diet-related non-communicable diseases
Pedro T Pisa, Edwige Landais, Barrie Margetts, et al.
European Journal of Neurology
|
August 8, 2025
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis
Jean-Madeleine de Sainte Agathe, Pauline Monin, Florence Riccardi, et al.
Plos Genetics
|
September 5, 2014
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments
Claire S Leblond, Caroline Nava, Anne Polge, et al.
Neuropediatrics
|
June 1, 2017
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease
Gillian I Rice, Naoki Kitabayashi, Magalie Barth, et al.
American Journal of Human Genetics
|
April 17, 2018
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
Claire Guissart, Xenia Latypova, Paul Rollier, et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
|
September 7, 2020
The fingerprint of the summer 2018 drought in Europe on ground-based atmospheric CO<sub>2</sub> measurements
M Ramonet, P Ciais, F Apadula, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 8, 2021
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
Mehdi Benkirane, Cecilia Marelli, Claire Guissart, et al.
Brain : a Journal of Neurology
|
December 1, 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, et al.
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Showing results (1331-1340 of 1,344) with videos related to
Sort By:
Page
of 135
European Heart Journal
|
March 22, 2021
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data
Raphaël Porcher, Isabelle Desguerre, Helge Amthor, et al.
Human Mutation
|
December 16, 2017
Autosomal recessive primary microcephaly due to ASPM mutations: An update
Pascaline Létard, Séverine Drunat, Yoann Vial, et al.
Critical Reviews in Food Science and Nutrition
|
December 9, 2014
Inventory on the dietary assessment tools available and needed in africa: a prerequisite for setting up a common methodological research infrastructure for nutritional surveillance, research, and prevention of diet-related non-communicable diseases
Pedro T Pisa, Edwige Landais, Barrie Margetts, et al.
European Journal of Neurology
|
August 8, 2025
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis
Jean-Madeleine de Sainte Agathe, Pauline Monin, Florence Riccardi, et al.
Plos Genetics
|
September 5, 2014
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments
Claire S Leblond, Caroline Nava, Anne Polge, et al.
Neuropediatrics
|
June 1, 2017
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease
Gillian I Rice, Naoki Kitabayashi, Magalie Barth, et al.
American Journal of Human Genetics
|
April 17, 2018
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
Claire Guissart, Xenia Latypova, Paul Rollier, et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
|
September 7, 2020
The fingerprint of the summer 2018 drought in Europe on ground-based atmospheric CO<sub>2</sub> measurements
M Ramonet, P Ciais, F Apadula, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 8, 2021
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
Mehdi Benkirane, Cecilia Marelli, Claire Guissart, et al.
Brain : a Journal of Neurology
|
December 1, 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, et al.
Page
of 135