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1دورية أكاديمية
المؤلفون: Melissa A. Merideth, Wendy J. Introne, Jennifer A. Wang, Kevin J. O’Brien, Marjan Huizing, Bernadette R. Gochuico
المصدر: Platelets, Vol 31, Iss 4, Pp 544-547 (2020)
مصطلحات موضوعية: hermansky-pudlak syndrome, platelet delta granule, Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Marjan Huizing, Tal Yardeni, Federico Fuentes, May C.V. Malicdan, Petcharat Leoyklang, Alexander Volkov, Benjamin Dekel, Emily Brede, Jodi Blake, Alva Powell, Harish Chatrathi, Yair Anikster, Nuria Carrillo, William A. Gahl, Jeffrey B. Kopp
المصدر: Kidney International Reports, Vol 4, Iss 10, Pp 1454-1462 (2019)
مصطلحات موضوعية: Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
مصطلحات موضوعية: Bruising, Chinese, Dense granule, Hermansky-Pudlak syndrome, Hypopigmentation, Oculocutaneous albinism, Medicine
وصف الملف: electronic resource
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4
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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5
المصدر: Drugs in R&D
مصطلحات موضوعية: Adult, Male, Population, Pharmacology, 030226 pharmacology & pharmacy, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Muscular Diseases, Elimination rate constant, Pharmacokinetics, Oral administration, N-Acetylmannosamine, Humans, Original Research Article, education, 030203 arthritis & rheumatology, Volume of distribution, education.field_of_study, Chemistry, Hexosamines, N-Acetylneuraminic Acid, NONMEM, Bioavailability, Distal Myopathies, Female
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6دورية أكاديمية
المؤلفون: Christina Lam, Linda K. Gallo, Richard Dineen, Carla Ciccone, Heidi Dorward, George E. Hoganson, Lynne Wolfe, William A. Gahl, Marjan Huizing
المصدر: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 114-123 (2014)
مصطلحات موضوعية: Costeff optic atrophy syndrome, Extrapyramidal dysfunction, 3-Methyl glutaconic aciduria, Mitochondrial pathology, OPA3, Optic atrophy plus syndrome, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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7
المؤلفون: Marjan Huizing, Steven U. Walkley, Melissa Wasserstein, Christine Anne-Longin, Raymond Y. Wang, Richard Reimer, Laura Pollard, Liisa Paavola, May Christine Malicdan, Marya S. Sabir, Petcharat Leoyklang, David R. Adams, William A. Gahl
المصدر: Molecular Genetics and Metabolism. 138:107160
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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8
المؤلفون: Marjan Huizing, Marya S. Sabir, Mary E. Hackbarth, Lynne A. Wolfe, Melissa P. Wasserstein, David R. Adams, May C. Malicdan, William A. Gahl, Steven U. Walkley, F.S.A.S.D. Consortium
المصدر: Molecular Genetics and Metabolism. 135:S59-S60
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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9
المؤلفون: Kevin J. O'Brien, Wendy J. Introne, Bernadette R. Gochuico, Jennifer A. Wang, Marjan Huizing, Melissa A. Merideth
المصدر: Platelets
مصطلحات موضوعية: Blood Platelets, 0301 basic medicine, Excessive Bleeding, Contusions, Hemorrhage, Nerve Tissue Proteins, 030204 cardiovascular system & hematology, Article, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, Pulmonary fibrosis, medicine, Humans, Deamino Arginine Vasopressin, Desmopressin, Genetic testing, Hypopigmentation, medicine.diagnostic_test, business.industry, Proteins, Hematology, General Medicine, medicine.disease, Oculocutaneous albinism, Antifibrinolytic Agents, eye diseases, Bleeding diathesis, 030104 developmental biology, Platelet transfusion, Tranexamic Acid, Hermanski-Pudlak Syndrome, Aminocaproic Acid, Immunology, Hermansky–Pudlak syndrome, Carrier Proteins, Lysosomes, business, medicine.drug
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10
المؤلفون: Carlos Ferreira, Bradley Power, Dong Chen, Joshi Stephen, Kevin J. O'Brien, May Christine V. Malicdan, Wadih M. Zein, David R. Adams, Marjan Huizing, Wendy J. Introne, William A. Gahl, Bernadette R. Gochuico
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Blood Platelets, Male, 0301 basic medicine, medicine.medical_specialty, Genotype, lcsh:Medicine, 030105 genetics & heredity, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Genotype-phenotype distinction, Microscopy, Electron, Transmission, hemic and lymphatic diseases, Humans, Medicine, Missense mutation, Pharmacology (medical), Child, Exome, Genetics (clinical), Hypopigmentation, Chinese, integumentary system, business.industry, Research, Platelet, lcsh:R, Hermansky-Pudlak syndrome, General Medicine, Oculocutaneous albinism, medicine.disease, Dermatology, eye diseases, Pedigree, Dense granule, Albinism, Oculocutaneous, Hermanski-Pudlak Syndrome, Child, Preschool, Bruising, Mutation, Etiology, Female, medicine.symptom, Hermansky–Pudlak syndrome, business, 030217 neurology & neurosurgery