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

URL الوصول: https://doaj.org/article/8616ac873cb24ee6aeaa082c3ccb2cb3

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

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972022000200168

المؤلفون: Zeng, Zhi-Gui^{Aff1, Aff3}, Zhou, Guang-Peng^{Aff1, Aff3}, Wei, Lin^{Aff1, Aff3}, Qu, Wei^{Aff1, Aff3}, Liu, Ying^{Aff1, Aff2, Aff3}, Tan, Yu-Le^{Aff1, Aff3}, Wang, Jun^{Aff1, Aff3}, Sun, Li-Ying^{Aff1, Aff2, Aff3, IDs13023022022339_cor8}, Zhu, Zhi-Jun^{Aff1, Aff3, IDs13023022022339_cor9}

المصدر: Orphanet Journal of Rare Diseases. 17(1)

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

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972022000200168&tlng=en; https://doaj.org/toc/2359-4292

URL الوصول: https://doaj.org/article/e54a369761f94b82b21abaf1fbcd0947

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

URL الوصول: https://doaj.org/article/8a4f9e076604454ca24c62416ed0822c

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

URL الوصول: https://doaj.org/article/78647638ec364e819536401586c4062f

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

URL الوصول: https://doaj.org/article/0554e990adb0470cb866ee945df34886

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

Relation: http://link.springer.com/article/10.1186/s12881-018-0660-3; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/62309fdc9f7a409089339d7e688eb0b4

المؤلفون: la Marca, Giancarlo^{Aff5, Aff6}

المساهمون: Blau, Nenad, editor^Aff1, Duran, Marinus, editor^Aff2, Gibson, K Michael, editor^Aff3, Dionisi Vici, Carlo, editor^Aff4

المصدر: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. :785-793

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c17058e00213b5ecdbec362287be48d
https://doi.org/10.2147/imcrj.s321961