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1دورية أكاديمية
المؤلفون: Wander, Arvinder, Meena, Ankit Kumar, Ghangoriya, Pawan Kumar, Chakrabarty, Biswaroop, Jauhari, Prashant, Gulati, SheffaliAff1, IDs12098023049573_cor6
المصدر: Indian Journal of Pediatrics. :1-4
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2دورية أكاديمية
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3
المؤلفون: Mihaela Badina, Andrada Mirea, Liliana Padure, Daniela Adriana Ion, Mihaela Axente, Corina Sporea, Elena-Silvia Shelby
المصدر: Journal of Medicine and Life
مصطلحات موضوعية: Sanger sequencing, Farber disease, business.industry, Case Report, ASAH1 gene, General Medicine, Disease, Spinal muscular atrophy, SMN1, SMA, medicine.disease, Bioinformatics, symbols.namesake, Atrophy, Spinal muscular atrophy with progressive myoclonic epilepsy, medicine, symbols, business, spinal muscular atrophy
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4دورية أكاديمية
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5
المؤلفون: Ratna Dua Puri, Alexander Solyom, Christina Grant, Sarah H. Elsea, Bo Magnusson, Maja DiRocco, Nur Arslan, Karoline Ehlert, Norberto Guelbert, John J. Mitchell, Laila Selim, Christina Lampe, Seza Ozen, Andreas Hahn, Marta Torcoletti, Carlos Ferreira, Kirt Martin, Iman G. Mahmoud, Seema Kapoor, Erik Sundberg, Maha S. Zaki, Neslihan Oneli Mungan, Paul Harmatz, Gülden Gökçay
المصدر: Human Mutation. 41:1469-1487
مصطلحات موضوعية: Adult, Acid Ceramidase, Adolescent, medicine.medical_treatment, Hematopoietic stem cell transplantation, Biology, Bioinformatics, Muscular Atrophy, Spinal, Young Adult, 03 medical and health sciences, Genetics, medicine, Animals, Humans, Child, Genetics (clinical), 030304 developmental biology, Genetic testing, Mice, Knockout, 0303 health sciences, Farber disease, medicine.diagnostic_test, 030305 genetics & heredity, Infant, Myoclonic Epilepsies, Progressive, medicine.disease, Natural history, Farber Lipogranulomatosis, Child, Preschool, Spinal muscular atrophy with progressive myoclonic epilepsy, Mutation, ASAH1, Cohort study
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6
المؤلفون: Ali Rashidi-Nezhad, Shahram Rahimi-Dehgolan, Masood Ghahvechi Akbari, Yalda Nilipour, Reza Shervin Badv
المصدر: International Medical Case Reports Journal. 12:155-159
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, General Medicine, Progressive myoclonus epilepsy, Spinal muscular atrophy, Motor neuron, medicine.disease, Muscle atrophy, Autosomal recessive trait, Epilepsy, medicine.anatomical_structure, Spinal muscular atrophy with progressive myoclonic epilepsy, medicine, Sensorineural hearing loss, medicine.symptom, business
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7دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
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8دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
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9
المؤلفون: Kristin D. Kernohan, Laure Frésard, Zachary Zappala, Taila Hartley, Kevin S. Smith, Justin Wagner, Hongbin Xu, Arran McBride, Pierre R. Bourque, CareRare Canada Consortium, Steffany A. L. Bennett, David A. Dyment, Kym M. Boycott, Stephen B. Montgomery, Jodi Warman Chardon
المصدر: Human Mutation. 38:611-614
مصطلحات موضوعية: 0301 basic medicine, Mutation, In silico, RNA, Spinal muscular atrophy, Biology, medicine.disease, medicine.disease_cause, Bioinformatics, DNA sequencing, 3. Good health, 03 medical and health sciences, 030104 developmental biology, Spinal muscular atrophy with progressive myoclonic epilepsy, RNA splicing, Genetics, ASAH1, medicine, Genetics (clinical)
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10
المؤلفون: Gonca Bektaş, Nur Aydınlı, Meral Özmen, Edibe Pembegül Yıldız, Burak Tatlı, Gozde Yesil, Mine Çalışkan
المصدر: Clinical Neurology and Neurosurgery. 164:47-49
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Acid Ceramidase, Adolescent, Progressive myoclonus epilepsy, Disease, Diagnosis, Differential, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Generalized epilepsy, Farber disease, business.industry, General Medicine, Spinal muscular atrophy, Motor neuron, Myoclonic Epilepsies, Progressive, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Spinal muscular atrophy with progressive myoclonic epilepsy, Mutation, ASAH1, Female, Surgery, Neurology (clinical), business, 030217 neurology & neurosurgery