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1دورية أكاديمية
المؤلفون: Austin A. Larson, Peter R. Baker, Miroslav P. Milev, Craig A. Press, Ronald J. Sokol, Mary O. Cox, Jacqueline K. Lekostaj, Aaron A. Stence, Aaron D. Bossler, Jennifer M. Mueller, Keshika Prematilake, Thierry Fotsing Tadjo, Charles A. Williams, Michael Sacher, Steven A. Moore
المصدر: Skeletal Muscle, Vol 8, Iss 1, Pp 1-10 (2018)
مصطلحات موضوعية: TRAPPC11, GOSR2, Golgi, Dystroglycanopathy, Dystroglycan, Muscular dystrophy, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
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2
المؤلفون: Michael Sacher, Avraham Shaag, Michael O. Dorschner, Miroslav P. Milev, David S. Hanna, Christopher J. Hale, Ian A. Glass, Yong-Han Hank Cheng, Dan Doherty, Keshika Prematilake, Simon Edvardson, Megan E. Grout, Djenann Saint-Dic, Orly Elpeleg
المصدر: The American Journal of Human Genetics. 101:291-299
مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Encephalopathy, Golgi Apparatus, Endoplasmic Reticulum, 03 medical and health sciences, symbols.namesake, Report, Genetics, medicine, Humans, Exome, Genetic Predisposition to Disease, Cells, Cultured, Genetics (clinical), Brain Diseases, Base Sequence, biology, Endoplasmic reticulum, Brain, Infant, Membrane Transport Proteins, Sequence Analysis, DNA, Golgi apparatus, medicine.disease, Magnetic Resonance Imaging, Phenotype, Transport protein, Protein Transport, 030104 developmental biology, TRAPP complex, Membrane protein, Child, Preschool, biology.protein, symbols, Female, Atrophy, Transcription Factors
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3
المؤلفون: Susann Kutzner, Eda Utine, Felix Reschke, Filiz Hazan, Angela Huebner, Michael Sacher, Ramona Jühlen, Katrin Koehler, Dana Landgraf, Miroslav P. Milev, Markus Schuelke, Keshika Prematilake, Gulden Diniz
المصدر: Journal of Medical Genetics. 54:176-185
مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, medicine.medical_specialty, Triple-A syndrome, Biology, medicine.disease, medicine.disease_cause, Alacrima, Molecular biology, Exon skipping, 3. Good health, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Genetic linkage, Molecular genetics, medicine, Muscular dystrophy, medicine.symptom, Myopathy, 030217 neurology & neurosurgery, Genetics (clinical)
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4
المؤلفون: Craig A. Press, Keshika Prematilake, Peter R. Baker, Charles A. Williams, Aaron D. Bossler, Thierry Fotsing Tadjo, Miroslav P. Milev, Ronald J. Sokol, Steven A. Moore, Jacqueline K. Lekostaj, Mary O. Cox, Jennifer Mueller, Aaron A. Stence, Austin Larson, Michael Sacher
المصدر: Skeletal Muscle
Skeletal Muscle, Vol 8, Iss 1, Pp 1-10 (2018)مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, lcsh:Diseases of the musculoskeletal system, Glycosylation, TRAPPC11, Vesicular Transport Proteins, Case Report, Biology, Compound heterozygosity, Muscular Dystrophies, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Golgi, medicine, Dystroglycan, Humans, GOSR2, Abnormalities, Multiple, Orthopedics and Sports Medicine, Muscular dystrophy, Dystroglycans, Muscle, Skeletal, Molecular Biology, Brain, Infant, Muscle weakness, Cell Biology, Qb-SNARE Proteins, medicine.disease, Membrane traffic, Hypotonia, Transport protein, Dystroglycanopathy, Diffusion Magnetic Resonance Imaging, 030104 developmental biology, Endocrinology, Mutation, Congenital muscular dystrophy, biology.protein, Female, lcsh:RC925-935, medicine.symptom, 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy
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5
المؤلفون: Katrin, Koehler, Miroslav P, Milev, Keshika, Prematilake, Felix, Reschke, Susann, Kutzner, Ramona, Jühlen, Dana, Landgraf, Eda, Utine, Filiz, Hazan, Gulden, Diniz, Markus, Schuelke, Angela, Huebner, Michael, Sacher
المصدر: Journal of medical genetics. 54(3)
مصطلحات موضوعية: Male, Adolescent, Turkey, Homozygote, Vesicular Transport Proteins, Exons, Pedigree, Esophageal Achalasia, Consanguinity, Mutation, Humans, Female, RNA Splice Sites, Child, Adrenal Insufficiency