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المؤلفون: Marc-Olivier Deguise, Abdurrahman W. Muhtaseb, Christiano R. R. Alves, Amita Sharma, Ivy A. Rosales, Ren Zhang, Rashmi Kothary, Flávia C. Nery, Kathryn J. Swoboda, Pann H. Nwe, Alec J. Johnstone, Natassja Huemer, Jennifer J. Siranosian, Maryam Fatouraei
المصدر: Neurology: Genetics
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Article, Nephrotoxicity, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Polycystic kidney disease, Genetics (clinical), Creatinine, Kidney, biology, business.industry, Spinal muscular atrophy, SMA, medicine.disease, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, chemistry, Cystatin C, biology.protein, Neurology (clinical), Nephrocalcinosis, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dea70ccb4c78f4fcad91356e041d980
https://pubmed.ncbi.nlm.nih.gov/31517062 -
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المؤلفون: Matthew R. Avenarius, Jennifer S Roggenbuck, Abdurrahman W. Muhtaseb, Flávia C. Nery, Pamela J. Snyder, John T. Kissel, Kathryn J. Swoboda, Pann H. Nwe, Vicki L. McGovern, Thomas W. Prior, Arthur H.M. Burghes, Ren Z Zhang, Jennifer J. Siranosian, Alec J. Johnstone, Valeria A. Sansone, Corey Ruhno
مصطلحات موضوعية: Candidate gene, Genetic Linkage, Gene Dosage, Inheritance Patterns, SMN1, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Article, Muscular Atrophy, Spinal, 03 medical and health sciences, Exon, Gene Frequency, Genetics, medicine, Humans, Gene, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Mutation, Base Sequence, 030305 genetics & heredity, Intron, Computational Biology, High-Throughput Nucleotide Sequencing, Spinal muscular atrophy, medicine.disease, SMA, Molecular biology, Survival of Motor Neuron 1 Protein, nervous system diseases, Pedigree, Survival of Motor Neuron 2 Protein, Phenotype, Gene Deletion
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3257448dc926ad825225c043d2c0793
https://europepmc.org/articles/PMC6503527/ -
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المؤلفون: Colleen Cassidy, Brendan P. Lehnert, Ling Bai, Travis L. Dickendesher, Junwei Liu, Pann H. Nwe, Nicole Neubarth, C. Jeffery Woodbury, David D. Ginty
المصدر: Cell. 163:1783-1795
مصطلحات موضوعية: Spinal Cord Dorsal Horn, Sensory Receptor Cells, Intermediate Filaments, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Mice, medicine, Animals, Skin, integumentary system, Biochemistry, Genetics and Molecular Biology(all), Extramural, Hairy skin, Anatomy, Hair follicle, Axons, Electrophysiological Phenomena, Highly sensitive, Mechanoreceptor, medicine.anatomical_structure, Touch, Receptive field, Hair Follicle, Mechanoreceptors, Neuroscience, Expansive, Brain Stem