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المؤلفون: Dawn M. Maynard, Thierry Vilboux, Meral Gunay-Aygun, Deniz Yildirimli, May Christine V. Malicdan, Roxanne Fischer, William A. Gahl, Joy Bryant, Meghana Vemulapalli, Luhe Mian, Chulaluck Kuptanon, Joshi Stephen, Marjan Huizing, James C. Mullikin, Courtney M. Sinclair
المصدر: Human Genetics. 136:399-408
مصطلحات موضوعية: Male, 0301 basic medicine, 030105 genetics & heredity, Biology, Compound heterozygosity, Ciliopathies, Retina, Article, Joubert syndrome, 03 medical and health sciences, Exon, Cerebellum, Ciliogenesis, Genetics, medicine, Intronic Mutation, Animals, Humans, Missense mutation, Abnormalities, Multiple, Amino Acid Sequence, Eye Abnormalities, Child, Genetics (clinical), Exome sequencing, Sequence Homology, Amino Acid, Kidney Diseases, Cystic, medicine.disease, eye diseases, 030104 developmental biology, Growth Hormone, Mutation, Female, Microtubule-Associated Proteins
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المؤلفون: Daniel Konzman, Nisc Comparative Sequencing Program, Meral Gunay-Aygun, James C. Mullikin, Dino Maglic, Meghana Vemulapalli, May Christine V. Malicdan, Benjamin D. Solomon, Thierry Vilboux, Joseph Snow, Camilo Toro, Joy Bryant, Joshi Stephen, Luhe Mian, Deniz Yildirimli, John Niederhuber, Roxanne Fischer, William A. Gahl, Wadih M. Zein, Jennifer Guo
مصطلحات موضوعية: Male, Ellis-Van Creveld Syndrome, DNA Mutational Analysis, Primary Cell Culture, Gene Expression, Cell Cycle Proteins, Gene mutation, Biology, Joubert syndrome, Article, Retina, Frameshift mutation, Ciliogenesis, Cerebellum, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Cilia, Eye Abnormalities, Child, Frameshift Mutation, Genetics (clinical), Exome sequencing, Ellis–van Creveld syndrome, Cells, Cultured, Polydactyly, Base Sequence, Fibroblasts, Kidney Diseases, Cystic, medicine.disease, Pedigree, Ciliopathy, Child, Preschool, Female, Chickens
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::291e86447bca2de51e157c6ec50dab20
https://europepmc.org/articles/PMC5517294/ -
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المؤلفون: Nuria Carrillo-Carrasco, Luhe Mian, Patricia M. Zerfas, May Christine V. Malicdan, Petcharat Leoyklang, William A. Gahl, D. Despres, Frank Celeste
المصدر: Neuromuscular Disorders. 24:810
مصطلحات موضوعية: Cardiac function curve, Pathology, medicine.medical_specialty, Weakness, Cardiac muscle, Rimmed vacuoles, Anatomy, Biology, medicine.disease, Contractility, Atrophy, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, cardiovascular system, medicine, Neurology (clinical), medicine.symptom, Myopathy, Myofibril, Genetics (clinical)