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1دورية أكاديمية
المؤلفون: Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter
المصدر: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101013- (2023)
مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter
المصدر: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101001- (2023)
مصطلحات موضوعية: Creatine transporter deficiency, SLC6A8, Amyloid beta peptides, Tau protein, Cerebrospinal fluid, Cerebral energy deficiency, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: An N. Dang Do, Irene J. Chang, Xutian Jiang, Lynne A. Wolfe, Bobby G. Ng, Christina Lam, Rhonda E. Schnur, Katrina Allis, Hana Hansikova, Nina Ondruskova, Shawn D. O'Connor, Amarilis Sanchez‐Valle, Arve Vollo, Raymond Y. Wang, Zoe Wolfenson, John Perreault, Daniel S. Ory, Hudson H. Freeze, J. Lawrence Merritt, Forbes D. Porter
المصدر: Journal of inherited metabolic disease, vol 46, iss 2
J Inherit Metab Disمصطلحات موضوعية: bile acids, Pediatric, Genetics & Heredity, Vacuolar Proton-Translocating ATPases, Glycosylation, Hydrolases, Liver Disease, Clinical Sciences, Infant, Oxysterols, Niemann-pick type C, Type C, Article, Bile Acids and Salts, Congenital Disorders of Glycosylation, N-palmitoyl-O-phosphocholineserine, Clinical Research, Niemann-Pick Disease, Genetics, Humans, Child, Digestive Diseases, Genetics (clinical), ATP6AP1
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a1fe60093ec40cb5561491e1ea6d777
https://escholarship.org/uc/item/39n7s551 -
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المؤلفون: Fady Hannah-Shmouni, Beth A. Kozel, Niamh X. Cawley, An Dang Do, Audrey Noguchi, Christopher A. Wassif, Danielle A. Springer, Julia F Grafstein, Andrew Smith, Judith Miller, Audrey Thurm, Andreas Schulze, Dylan Hammond, Forbes D. Porter, Simona Bianconi, Mark D. Levin, Christopher F. Spurney, John Perreault, Zu-Xi Yu
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Autism Spectrum Disorder, Cardiomyopathy, Diastole, Creatine transport, Disease, 030105 genetics & heredity, Plasma Membrane Neurotransmitter Transport Proteins, QT interval, Sudden death, Article, Death, Sudden, Mice, 03 medical and health sciences, Internal medicine, Animals, Humans, Medicine, cardiovascular diseases, Genetics (clinical), business.industry, Brain Diseases, Metabolic, Inborn, Creatine, medicine.disease, Cross-Sectional Studies, 030104 developmental biology, Cohort, Mental Retardation, X-Linked, Cardiology, CTD, business
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5
المؤلفون: Melanie Quintana, William A. Gahl, Levent Bayman, Scott A. Van Wart, Colleen Jodarski, Claire T. Driscoll, Chia-Ying Liu, Nuria Carrillo, Carla Ciccone, Galen O. Joe, Scott M. Berry, Rebecca Parks, John D. Heiss, Bradley Class, May Christine V. Malicdan, Kennan Bradley, Petcharat Leoyklang, Joseph A. Shrader, John Perreault, Christopher S. Coffey, Christina Slota, Marjan Huizing
المصدر: Genetics in Medicine
BASE-Bielefeld Academic Search Engineمصطلحات موضوعية: Adult, medicine.medical_specialty, Phases of clinical research, Gastroenterology, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Muscular Diseases, N-Acetylmannosamine, Internal medicine, medicine, Humans, In patient, Adverse effect, Myopathy, Genetics (clinical), 030304 developmental biology, 0303 health sciences, business.industry, Hexosamines, GNE MYOPATHY, N-Acetylneuraminic Acid, Clinical trial, Distal Myopathies, chemistry, Mechanism of action, medicine.symptom, business, 030217 neurology & neurosurgery
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6
المؤلفون: Brian Hill, Thien Nguyen, Timothy Quang, Viswanath Gorti, Amir H. Gandjbakhche, Babak Shadgan, Tomás González Cano, Kosar Khaksari, John Perreault, Emily Blick, Ravi Malpani
المصدر: Journal of Medical Imaging
مصطلحات موضوعية: Paper, medicine.medical_specialty, infectious disease, Vital signs, coronavirus, Disease, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Pandemic, medicine, Radiology, Nuclear Medicine and imaging, Intensive care medicine, Mass screening, Review Papers, core body temperature, fever screening, Transmission (medicine), business.industry, Outbreak, Gold standard (test), Infectious disease (medical specialty), 030220 oncology & carcinogenesis, infrared thermography, thermal camera, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4814ef65003c13cd0abf0cc156079594
http://europepmc.org/articles/PMC7995646 -
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المؤلفون: William A. Gahl, John D. Heiss, Vandana Singhal, Joseph A. Shrader, Angela Gruber, John Perreault, Prashant Chittiboina, Christina Slota, Aaron Poliak, Christina Hayes, Carla Ciccone, Marjan Huizing, May Christine V. Malicdan, Jennifer Garland, Joshi Stephen, Bradley Class, Ralitza H. Gavrilova, Galen O. Joe, Nuria Carrillo
المصدر: Molecular Genetics & Genomic Medicine. 5:410-417
مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, Muscle biopsy, medicine.diagnostic_test, Alu element, Biology, medicine.disease_cause, Molecular biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine, Coding region, Copy-number variation, Allele, medicine.symptom, Myopathy, Molecular Biology, Gene, 030217 neurology & neurosurgery, Genetics (clinical)
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8
المؤلفون: Jennifer, Garland, Joshi, Stephen, Bradley, Class, Angela, Gruber, Carla, Ciccone, Aaron, Poliak, Christina P, Hayes, Vandana, Singhal, Christina, Slota, John, Perreault, Ralitza, Gavrilova, Joseph A, Shrader, Prashant, Chittiboina, Galen, Joe, John, Heiss, William A, Gahl, Marjan, Huizing, Nuria, Carrillo, May Christine V, Malicdan
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: genomic rearrangement, sialic acid, array‐CGH, precision medicine, GNE isoforms, Original Article, copy number variant, Original Articles, Alu‐SINE repeat, GNE myopathy
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9
المؤلفون: William H. Scott, Paula Geigle, Peter H. Gorman, John Perreault
المصدر: Spinal cord. 54(9)
مصطلحات موضوعية: Male, medicine.medical_specialty, Bariatric Surgery, 030209 endocrinology & metabolism, Walking, Quadriplegia, Body Mass Index, 03 medical and health sciences, 0302 clinical medicine, Weight loss, Incomplete tetraplegia, Weight Loss, medicine, Gastric sleeve, Humans, 030212 general & internal medicine, Obesity, Spinal cord injury, Tetraplegia, Gait Disorders, Neurologic, business.industry, General Medicine, Middle Aged, medicine.disease, Gait, Surgery, Neurology, Neurology (clinical), Clinical case, medicine.symptom, business, Body mass index, Follow-Up Studies
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المؤلفون: Peter H. Gorman, Sara Kate Frye, William H. Scott, Paula Geigle, John Perreault
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Context (language use), Case Reports, Treadmill training, Asymptomatic, Weight-Bearing, Physical medicine and rehabilitation, medicine, Humans, Exertion, Tetraplegia, Spinal cord injury, Physical Therapy Modalities, Spinal Cord Injuries, Randomized Controlled Trials as Topic, business.industry, Body Weight, Robotics, Institutional review board, medicine.disease, Physical therapy, Autonomic Dysreflexia, Autonomic dysreflexia, Neurology (clinical), medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a61b7b13d1879b50f80ce806b0678f00
https://europepmc.org/articles/PMC3595964/