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1دورية أكاديمية
المؤلفون: Beena Suresh, Umarani Ravichandran, Sujatha Jagadeesh
المصدر: Journal of Clinical and Diagnostic Research, Vol 17, Iss 12, Pp 01-03 (2023)
مصطلحات موضوعية: anaemia, heterozygous carrier, molecular testing, prenatal testing, Medicine
وصف الملف: electronic resource
Relation: https://www.jcdr.net/articles/PDF/18819/67494_CE[Ra1]_F(SL)_QC(KK_RDW_SHU)_PF1(VD_KM_OM)_PFA(VD_KM)_PN(KM).pdf; https://doaj.org/toc/2249-782X; https://doaj.org/toc/0973-709X
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2دورية أكاديمية
المؤلفون: Silva, Rita Santos, Carvalho, Berta, Pedro, Jorge, Castro-Correia, Cíntia, Carvalho, Davide, Carvalho, Filipa, Fontoura, Manuel
المصدر: Archives of Endocrinology and Metabolism. April 2022 66(2)
مصطلحات موضوعية: Heterozygous carrier, 17-hydroxyprogesterone, precocious pubarche, hyperandrogenism
وصف الملف: text/html
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3دورية أكاديمية
المؤلفون: Zeng, Zhi-GuiAff1, Aff3, Zhou, Guang-PengAff1, Aff3, Wei, LinAff1, Aff3, Qu, WeiAff1, Aff3, Liu, YingAff1, Aff2, Aff3, Tan, Yu-LeAff1, Aff3, Wang, JunAff1, Aff3, Sun, Li-YingAff1, Aff2, Aff3, IDs13023022022339_cor8, Zhu, Zhi-JunAff1, Aff3, IDs13023022022339_cor9
المصدر: Orphanet Journal of Rare Diseases. 17(1)
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4دورية أكاديمية
المؤلفون: Rita Santos Silva, Berta Carvalho, Jorge Pedro, Cíntia Castro-Correia, Davide Carvalho, Filipa Carvalho, Manuel Fontoura
المصدر: Archives of Endocrinology and Metabolism, Vol 66, Iss 2, Pp 168-175 (2022)
مصطلحات موضوعية: Heterozygous carrier, 17-hydroxyprogesterone, precocious pubarche, hyperandrogenism, Medicine, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Zhi-Gui Zeng, Guang-Peng Zhou, Lin Wei, Wei Qu, Ying Liu, Yu-Le Tan, Jun Wang, Li-Ying Sun, Zhi-Jun Zhu
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)
مصطلحات موضوعية: Propionic acidemia, Living donor liver transplantation, Heterozygous carrier, Propionyl-CoA carboxylase, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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6دورية أكاديمية
المؤلفون: Guardiola G, Ramos F, Izquierdo N
المصدر: International Medical Case Reports Journal, Vol Volume 14, Pp 459-463 (2021)
مصطلحات موضوعية: bardet-biedl syndrome, heterozygous carrier, retinitis pigmentosa, polydactyly, Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://www.dovepress.com/retinitis-pigmentosa-and-polydactyly-in-a-patient-with-a-heterozygous--peer-reviewed-fulltext-article-IMCRJ; https://doaj.org/toc/1179-142X
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7دورية أكاديمية
المؤلفون: Anastasiya A. Kozina, Elena G. Okuneva, Natalia V. Baryshnikova, Olga B. Kondakova, Ekaterina A. Nikolaeva, Inessa D. Fedoniuk, Svetlana V. Mikhailova, Anna Y. Krasnenko, Ivan F. Stetsenko, Nikolay A. Plotnikov, Olesia I. Klimchuk, Yaroslav V. Popov, Ekaterina I. Surkova, Peter A. Shatalov, Alexander S. Rakitko, Valery V. Ilinsky
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
مصطلحات موضوعية: exome sequencing, heterozygous carrier, NCL, neuronal ceroid lipofuscinosis, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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8دورية أكاديميةHigh genetic carrier frequency of Wilson’s disease in France: discrepancies with clinical prevalence
المؤلفون: Corinne Collet, Jean-Louis Laplanche, Justine Page, Hélène Morel, France Woimant, Aurélia Poujois
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)
مصطلحات موضوعية: Wilson’s disease, ATP7B, Clinical prevalence, Heterozygous carrier frequency, Epidemiology, Copper, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
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9كتاب إلكتروني
المؤلفون: la Marca, GiancarloAff5, Aff6
المساهمون: Blau, Nenad, editorAff1, Duran, Marinus, editorAff2, Gibson, K Michael, editorAff3, Dionisi Vici, Carlo, editorAff4
المصدر: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. :785-793
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10
المؤلفون: Natalio J Izquierdo, Gabriel A Guardiola, Fabiola Ramos
المصدر: International Medical Case Reports Journal
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Visual acuity, genetic structures, BBS1, Case Report, Bardet–Biedl syndrome, retinitis pigmentosa, Ophthalmology, Retinitis pigmentosa, medicine, heterozygous carrier, Retinal pigment epithelium, Polydactyly, business.industry, General Medicine, polydactyly, medicine.disease, eye diseases, Ciliopathy, medicine.anatomical_structure, sense organs, medicine.symptom, business, Erg