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Kết quả 1 - 10 của 2.068  trong Tất cả tài nguyên

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A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21
A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21
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A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21

Molecular genetics & genomic medicine, 2020-08, Vol.8 (8), p.e1279-n/a [Tạp chí có phản biện]

2020 The Authors. published by Wiley Periodicals LLC ;2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2020. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.1279 ;PMID: 32463164

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2
47, XXX syndrome with infertility, premature ovarian insufficiency, and streak ovaries
47, XXX syndrome with infertility, premature ovarian insufficiency, and streak ovaries
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47, XXX syndrome with infertility, premature ovarian insufficiency, and streak ovaries

Clinical case reports, 2019-06, Vol.7 (6), p.1238-1241 [Tạp chí có phản biện]

2019 The Authors. published by John Wiley & Sons Ltd. ;2019. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2050-0904 ;EISSN: 2050-0904 ;DOI: 10.1002/ccr3.2207 ;PMID: 31183102

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3
Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX
Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX
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Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX

Genes, 2021-06, Vol.12 (6), p.798 [Tạp chí có phản biện]

2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2021 by the authors. 2021 ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes12060798 ;PMID: 34073864

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4
Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype
Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype
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Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype

Journal of genetics, 2018-03, Vol.97 (1), p.337-340 [Tạp chí có phản biện]

Indian Academy of Sciences 2018 ;COPYRIGHT 2018 Springer ;Journal of Genetics is a copyright of Springer, (2018). All Rights Reserved. ;ISSN: 0022-1333 ;EISSN: 0973-7731 ;DOI: 10.1007/s12041-018-0916-x ;PMID: 29666354

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5
Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome
Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome
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Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome

Journal of medical genetics, 2002-03, Vol.39 (3), p.217-221 [Tạp chí có phản biện]

Copyright 2002 Journal of Medical Genetics ;2002 INIST-CNRS ;COPYRIGHT 2002 BMJ Publishing Group Ltd. ;Copyright: 2002 Copyright 2002 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.39.3.217 ;PMID: 11897829 ;CODEN: JMDGAE

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6
Systemic lupus erythematosus in a multiethnic US Cohort (LUMINA). XXX: association between C-reactive protein (CRP) gene polymorphisms and vascular events
Systemic lupus erythematosus in a multiethnic US Cohort (LUMINA). XXX: association between C-reactive protein (CRP) gene polymorphisms and vascular events
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Systemic lupus erythematosus in a multiethnic US Cohort (LUMINA). XXX: association between C-reactive protein (CRP) gene polymorphisms and vascular events

Rheumatology (Oxford, England), 2005-07, Vol.44 (7), p.864-868 [Tạp chí có phản biện]

2005 INIST-CNRS ;Copyright Oxford University Press(England) Jul 2005 ;ISSN: 1462-0324 ;EISSN: 1462-0332 ;DOI: 10.1093/rheumatology/keh613 ;PMID: 15797975 ;CODEN: BJRHDF

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7
The epidemiology of sex chromosome abnormalities
The epidemiology of sex chromosome abnormalities
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The epidemiology of sex chromosome abnormalities

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.202

2020 Wiley Periodicals LLC. ;EISSN: 1552-4876 ;DOI: 10.1002/ajmg.c.31805 ;PMID: 32506765

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8
Intestinal Atresia, Encephalocele, and Cardiac Malformations in Infants with 47,XXX: Expansion of the Phenotypic Spectrum and a Review of the Literature
Intestinal Atresia, Encephalocele, and Cardiac Malformations in Infants with 47,XXX: Expansion of the Phenotypic Spectrum and a Review of the Literature
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Intestinal Atresia, Encephalocele, and Cardiac Malformations in Infants with 47,XXX: Expansion of the Phenotypic Spectrum and a Review of the Literature

Fetal diagnosis and therapy, 2010-03, Vol.27 (2), p.113-117 [Tạp chí có phản biện]

2010 S. Karger AG, Basel ;2015 INIST-CNRS ;2010 S. Karger AG, Basel. ;ISSN: 1015-3837 ;EISSN: 1421-9964 ;DOI: 10.1159/000284929 ;PMID: 20160426

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9
Crohn's disease in Turner's syndrome with X-chromosomal mosaicism of 45 XO and 47 XXX
Crohn's disease in Turner's syndrome with X-chromosomal mosaicism of 45 XO and 47 XXX
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Crohn's disease in Turner's syndrome with X-chromosomal mosaicism of 45 XO and 47 XXX

Journal of gastroenterology, 2005-09, Vol.40 (9), p.914-916 [Tạp chí có phản biện]

Springer-Verlag Tokyo 2005 ;ISSN: 0944-1174 ;EISSN: 1435-5922 ;DOI: 10.1007/s00535-005-1659-z ;PMID: 16211352

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10
Program and abstracts of the 8th annual meeting of the International Society for Heart Research--American Section, satellite symposium of the XXX International Physiological Congress, and the 3rd Annual Cardiology Symposium of the University of Manitoba. Winnipeg, Canada (July 8-11, 1986)
Program and abstracts of the 8th annual meeting of the International Society for Heart Research--American Section, satellite symposium of the XXX International Physiological Congress, and the 3rd Annual Cardiology Symposium of the University of Manitoba. Winnipeg, Canada (July 8-11, 1986)
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Program and abstracts of the 8th annual meeting of the International Society for Heart Research--American Section, satellite symposium of the XXX International Physiological Congress, and the 3rd Annual Cardiology Symposium of the University of Manitoba. Winnipeg, Canada (July 8-11, 1986)

Journal of molecular and cellular cardiology, 1986-06, Vol.18 Suppl 3, p.1-84 [Tạp chí có phản biện]

ISSN: 0022-2828 ;EISSN: 1095-8584 ;PMID: 3723602

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