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Michel Koenig

Showing results (91-100 of 126) with videos related to

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European Journal of Human Genetics : EJHG|June 26, 2026
Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning toolsClément Hersent, Lise Larrieu, Patricia Fergelot, et al.
Brain : a Journal of Neurology|April 23, 2021
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxiaAdriana P Rebelo, Ilse Eidhof, Vivian P Cintra, et al.
Journal of Medical Genetics|September 30, 2020
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathyJustine Géraud, Klaus Dieterich, John Rendu, et al.
Plos One|October 17, 2013
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutationsMustafa A Salih, Emeline Mundwiller, Arif O Khan, et al.
American Journal of Human Genetics|March 6, 2008
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiencyClotilde Lagier-Tourenne, Meriem Tazir, Luis Carlos López, et al.
The Journal of Molecular Diagnostics : JMD|May 25, 2018
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin GenesReda Zenagui, Delphine Lacourt, Henri Pegeot, et al.
Orphanet Journal of Rare Diseases|October 30, 2013
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progressionCyril Mignot, Emmanuelle Apartis, Alexandra Durr, et al.
Science (New York, N.Y.)|October 5, 2023
Transonic dislocation propagation in diamondKento Katagiri, Tatiana Pikuz, Lichao Fang, et al.
Journal of Neurology|May 5, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified casesMartial Mallaret, Mathilde Renaud, Claire Redin, et al.
Brain : a Journal of Neurology|April 19, 2016
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre studyMatthis Synofzik, Katrien Smets, Martial Mallaret, et al.
Pageof 13

Showing results (91-100 of 126) with videos related to

Sort By:
Pageof 13
European Journal of Human Genetics : EJHG|June 26, 2026
Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning toolsClément Hersent, Lise Larrieu, Patricia Fergelot, et al.
Brain : a Journal of Neurology|April 23, 2021
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxiaAdriana P Rebelo, Ilse Eidhof, Vivian P Cintra, et al.
Journal of Medical Genetics|September 30, 2020
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathyJustine Géraud, Klaus Dieterich, John Rendu, et al.
Plos One|October 17, 2013
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutationsMustafa A Salih, Emeline Mundwiller, Arif O Khan, et al.
American Journal of Human Genetics|March 6, 2008
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiencyClotilde Lagier-Tourenne, Meriem Tazir, Luis Carlos López, et al.
The Journal of Molecular Diagnostics : JMD|May 25, 2018
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin GenesReda Zenagui, Delphine Lacourt, Henri Pegeot, et al.
Orphanet Journal of Rare Diseases|October 30, 2013
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progressionCyril Mignot, Emmanuelle Apartis, Alexandra Durr, et al.
Science (New York, N.Y.)|October 5, 2023
Transonic dislocation propagation in diamondKento Katagiri, Tatiana Pikuz, Lichao Fang, et al.
Journal of Neurology|May 5, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified casesMartial Mallaret, Mathilde Renaud, Claire Redin, et al.
Brain : a Journal of Neurology|April 19, 2016
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre studyMatthis Synofzik, Katrien Smets, Martial Mallaret, et al.
Pageof 13