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1دورية أكاديمية
المؤلفون: Dursun, Fadime ErsoyAff1, IDs1103302308275x_cor1, Özen, Filiz
المصدر: Molecular Biology Reports: An International Journal on Molecular and Cellular Biology. 50(4):3355-3363
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2دورية أكاديمية
المؤلفون: Zhe-wen Zhou, Shou-hao Wang, Cheng-an Xu, Wen-hao Wu, Tian-chen Hui, Qiao-qiao Yin, Wei Zheng, Hong-ying Pan
المصدر: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-6 (2022)
مصطلحات موضوعية: Niemann Pick disease type B, Sea-blue histiocytosis, Budd-Chiari syndrome, SMPD1 gene, Case report, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794
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3دورية أكاديمية
المؤلفون: Zhou, Zhe-wenAff1, Aff2, Wang, Shou-hao, Xu, Cheng-an, Wu, Wen-hao, Hui, Tian-chen, Yin, Qiao-qiao, Zheng, Wei, Pan, Hong-yingAff1, Aff2, IDs12920022013532_cor8
المصدر: BMC Medical Genomics. 15(1)
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4دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
5دورية أكاديمية
المؤلفون: Deng, Sheng, Deng, Xiong, Song, Zhi, Xiu, Xiaofei, Guo, Yi, Xiao, Jingjing, Deng, Hao
المصدر: Molecular Neurobiology. September 2016 53(7):5025-5029
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6دورية أكاديمية
المؤلفون: Masoumeh Dehghan Manshadi, Behnam Kamalidehghan, Fatemeh Keshavarzi, Omid Aryani, Sepideh Dadgar, Ahoora Arastehkani, Mahdi Tondar, Fatemeh Ahmadipour, Goh Yong Meng, Massoud Houshmand
المصدر: International Journal of Molecular Sciences, Vol 16, Iss 4, Pp 6668-6676 (2015)
مصطلحات موضوعية: types A and B niemann-pick disease (NPD), sphingomyelin phosphodiesterase 1 (SMPD1) gene, acid sphingomyelinase (ASM), p.G508R, p.N385K and p.V36A, c.1033–1034insT and c.1417–1418delCT, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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7
المؤلفون: Halil Gürhan Karabulut, Hande Nur Cesur Baltacı, Fatma Tuba Eminoğlu, Elifcan Taşdelen, Vehap Topcu
المصدر: Journal of Pediatric Endocrinology and Metabolism. 34:653-657
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Mutation, Constipation, Urofacial syndrome, business.industry, Endocrinology, Diabetes and Metabolism, Urinary system, 030232 urology & nephrology, Urinary incontinence, Disease, medicine.disease, medicine.disease_cause, Dermatology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Endocrinology, Pediatrics, Perinatology and Child Health, medicine, medicine.symptom, Hypertelorism, SMPD1 Gene, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9df64a9a0a8a29b3e1339f953cce144b
https://doi.org/10.1515/jpem-2020-0367 -
8
المؤلفون: Daisuke Hasegawa, Makoto Haritani, Mun Keong Kok, Yuta Takaichi, Hiroyuki Nakayama, Hiroki Uchiyama, Kazuyuki Uchida, James K. Chambers
المصدر: Veterinary Pathology. 57:559-564
مصطلحات موضوعية: Nervous system, Pathology, medicine.medical_specialty, General Veterinary, 040301 veterinary sciences, Nonsense mutation, 04 agricultural and veterinary sciences, Biology, medicine.disease, Luxol fast blue stain, 0403 veterinary science, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Cytoplasm, medicine, Acid sphingomyelinase, SMPD1 Gene, Niemann–Pick disease, Infiltration (medical), 030217 neurology & neurosurgery, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a176cc3857e78170a7589326fed86d4f
https://doi.org/10.1177/0300985820921810 -
9
المؤلفون: Xinxu Yuan, Pin-Lan Li, Fadi N Salloum, Owais M. Bhat
المصدر: The FASEB Journal. 35
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Biochemistry, Stiffening, Endocrinology, Smooth muscle, Internal medicine, Genetics, medicine, SMPD1 Gene, business, Molecular Biology, Biotechnology, Obese Mice
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10
المؤلفون: Wajdi Amayreh, Israa Okour, Hanan A Aljamal, Rame Khasawneh, Batool Al-Zoubi, Yazan Haddad, Amany Haddad, Laith N. AL-Eitan, Kifah Alqa'qa', Hazem Haddad
المصدر: Gene. 747
مصطلحات موضوعية: 0301 basic medicine, Male, Biology, Sphingomyelin phosphodiesterase, 03 medical and health sciences, 0302 clinical medicine, Fatal Outcome, Genotype, Genetics, medicine, Humans, Unesterified cholesterol, Amino Acid Sequence, SMPD1 Gene, Child, chemistry.chemical_classification, Jordan, Base Sequence, Infant, General Medicine, Niemann-Pick Disease, Type B, Niemann-Pick Disease, Type A, Molecular biology, Pedigree, 030104 developmental biology, Enzyme, Sphingomyelin Phosphodiesterase, chemistry, 030220 oncology & carcinogenesis, Mutation, Female, Acid sphingomyelinase, Intracellular, medicine.drug