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Showing results (191-200 of 226) with videos related to

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Journal of Neurochemistry|September 14, 2017
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathiesMaike F Dohrn, Nicola Glöckle, Lejla Mulahasanovic, et al.
Human Mutation|July 5, 2022
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephalyNina Bögershausen, Hannah E Krawczyk, Rami A Jamra, et al.
Genome Medicine|March 19, 2020
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disordersDennis Lal, Patrick May, Eduardo Perez-Palma, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 1, 2021
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb InvolvementMichael Zech, Kishore R Kumar, Sophie Reining, et al.
NPJ Digital Medicine|February 17, 2026
BRIDGE pilot study: a bilateral regulatory investigation of data governance and exchangeHelen X Hou, Tom Bisson, Sophia M Leiss, et al.
Nature Communications|March 14, 2020
Cancer immune control needs senescence induction by interferon-dependent cell cycle regulator pathways in tumoursEllen Brenner, Barbara F Schörg, Fatima Ahmetlić, et al.
JCI Insight|February 23, 2026
Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndromeNikolaos T Skenteris, Elisa Luttermann, Sanjana Nair, et al.
Neurology|January 9, 2015
The phenotypic spectrum of SCN8A encephalopathyJan Larsen, Gemma L Carvill, Elena Gardella, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 27, 2021
Expanded phenotype of AARS1-related white matter diseaseGuy Helman, Marisa I Mendes, Francesco Nicita, et al.
Brain : a Journal of Neurology|October 21, 2017
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic featuresCristina Elena Niturad, Dorit Lev, Vera M Kalscheuer, et al.
Pageof 23

Showing results (191-200 of 226) with videos related to

Sort By:
Pageof 23
Journal of Neurochemistry|September 14, 2017
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathiesMaike F Dohrn, Nicola Glöckle, Lejla Mulahasanovic, et al.
Human Mutation|July 5, 2022
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephalyNina Bögershausen, Hannah E Krawczyk, Rami A Jamra, et al.
Genome Medicine|March 19, 2020
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disordersDennis Lal, Patrick May, Eduardo Perez-Palma, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 1, 2021
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb InvolvementMichael Zech, Kishore R Kumar, Sophie Reining, et al.
NPJ Digital Medicine|February 17, 2026
BRIDGE pilot study: a bilateral regulatory investigation of data governance and exchangeHelen X Hou, Tom Bisson, Sophia M Leiss, et al.
Nature Communications|March 14, 2020
Cancer immune control needs senescence induction by interferon-dependent cell cycle regulator pathways in tumoursEllen Brenner, Barbara F Schörg, Fatima Ahmetlić, et al.
JCI Insight|February 23, 2026
Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndromeNikolaos T Skenteris, Elisa Luttermann, Sanjana Nair, et al.
Neurology|January 9, 2015
The phenotypic spectrum of SCN8A encephalopathyJan Larsen, Gemma L Carvill, Elena Gardella, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 27, 2021
Expanded phenotype of AARS1-related white matter diseaseGuy Helman, Marisa I Mendes, Francesco Nicita, et al.
Brain : a Journal of Neurology|October 21, 2017
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic featuresCristina Elena Niturad, Dorit Lev, Vera M Kalscheuer, et al.
Pageof 23