المؤلفون: David A. Dyment, Kym M. Boycott, Bernard Brais, Laurence Gauquelin, Sohnee Ahmed, Jacek Majewski, Mark A. Tarnopolsky, Allan Micheil Innes, Martine Tétreault, Samantha K Rojas, Guy A. Rouleau, Francois P. Bernier, Karine Choquet, Michael T. Geraghty, Oksana Suchowersky, Grace Yoon, Taila Hartley

المصدر: Mov Disord Clin Pract

مصطلحات موضوعية: 0301 basic medicine, Disease gene, Pediatrics, medicine.medical_specialty, Ataxia, business.industry, 030105 genetics & heredity, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Neurology, Cohort, medicine, Cerebellar atrophy, Neurology (clinical), Medical diagnosis, medicine.symptom, Prospective cohort study, business, Genetic diagnosis, 030217 neurology & neurosurgery, Exome sequencing, Research Articles

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d557b439400a4b1ee400c816343675f
https://pubmed.ncbi.nlm.nih.gov/33163565

المؤلفون: Steven K. Baker, Meredith K. Gillespie, Mark A. Tarnopolsky, Brenda McInnes, Dennis E. Bulman, David A. Dyment, Lauren Brady, Justin D. Wagner, Pierre R. Bourque, Jillian S. Parboosingh, Jacek Majewski, Christopher Smith, Martine Tétreault, Gabriella Horvath, Eric Bareke, J Warman-Chardon, Grace Yoon, Francois P. Bernier, Kym M. Boycott, Allan Micheil Innes, Cynthia J. Curry, Taila Hartley

المصدر: Clinical genetics. 93(2)

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Kinesins, Context (language use), Disease, Biology, Protein Serine-Threonine Kinases, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Acetyltransferases, Charcot-Marie-Tooth Disease, Exome Sequencing, Genetics, medicine, Humans, Exome, Genetics (clinical), Exome sequencing, KIF1A, Genetic heterogeneity, Intracellular Signaling Peptides and Proteins, High-Throughput Nucleotide Sequencing, Peripheral Nervous System Diseases, medicine.disease, 3. Good health, 030104 developmental biology, Peripheral neuropathy, Mutation, Female, Hereditary motor and sensory neuropathy, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::653606d09fa1997222137c7a5fad2c7f
https://pubmed.ncbi.nlm.nih.gov/28708278

المؤلفون: Taila Hartley, Mark A. Tarnopolsky, Francois P. Bernier, Jacek Majewski, Michael T. Geraghty, Martine Tétreault, Laurence Gauquelin, Guy A. Rouleau, Allan Micheil Innes, Samantha K Rojas, Sohnee Ahmed, Oksana Suchowersky, Bernard Brais, Grace Yoon, David A. Dyment, Kym M. Boycott

المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 46:S11

مصطلحات موضوعية: Disease gene, Pediatrics, medicine.medical_specialty, Heterogeneous group, business.industry, Mitochondrial disease, General Medicine, medicine.disease, Novel gene, nervous system, Neurology, Medicine, Cerebellar atrophy, Neurology (clinical), business, Genetic diagnosis, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4b4c7022b7581914ab93ab192148ed9c
https://doi.org/10.1017/cjn.2019.95

المؤلفون: Luis Bello-Espinosa, Allan Micheil Innes, Kenneth A. Myers, Amin Kherani, Xing-Chang Wei

المصدر: Pediatric Neurology. 53:442-444

مصطلحات موضوعية: Male, Microcephaly, Pathology, medicine.medical_specialty, Mutation, Missense, Lissencephaly, Microphthalmia, Developmental Neuroscience, Tubulin, medicine, Polymicrogyria, Humans, Abnormalities, Multiple, Eye Abnormalities, Agenesis of the corpus callosum, Cerebellar hypoplasia, business.industry, Pachygyria, Brain, Infant, medicine.disease, Magnetic Resonance Imaging, nervous system, Neurology, Pediatrics, Perinatology and Child Health, Congenital cataracts, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87475546560313cfd17fcb4ed5ce462a
https://doi.org/10.1016/j.pediatrneurol.2015.07.004

المؤلفون: Jillian S. Parboosingh, Rani A. Bashir, Patrick Ferreira, Abhijit Dixit, Allan Micheil Innes, Ping-Yee B. Au, Caitlin Goedhart, Shabih U. Hasan

المصدر: American journal of medical genetics. Part A. 173(10)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, 030105 genetics & heredity, Craniosynostosis, 03 medical and health sciences, Craniosynostoses, Genetics, medicine, Humans, Agenesis of the corpus callosum, Genetics (clinical), Exome sequencing, Histone Acetyltransferases, Arthrogryposis, Multiple abnormalities, business.industry, Infant, Newborn, Infant, Syndrome, medicine.disease, Blepharophimosis, 3. Good health, Phenotype, Mutation (genetic algorithm), Mutation, Genitopatellar syndrome, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::767e232bbd4eeb4b329dd69a9efb5b14
https://pubmed.ncbi.nlm.nih.gov/28696035

المؤلفون: Kenneth A. Myers, Jean Kit-Wah Mah, Allan Micheil Innes

المصدر: Pediatrics. 138(6)

مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Male, Synkinesis, Context (language use), Trisomy, 030105 genetics & heredity, 03 medical and health sciences, Ptosis, Jaw Abnormalities, Gene duplication, medicine, Blepharoptosis, Humans, Chromosome 12, Chromosome Aberrations, Chromosomes, Human, Pair 12, Reflex, Abnormal, business.industry, Jaw movement, Infant, Anatomy, Marcus Gunn phenomenon, medicine.disease, Magnetic Resonance Imaging, Facial muscles, medicine.anatomical_structure, Face, Pediatrics, Perinatology and Child Health, medicine.symptom, Nervous System Diseases, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::433e5673119188a7347a44586a594ba1
https://pubmed.ncbi.nlm.nih.gov/27940697