受强制性开放获取政策约束的文章 - Svetlana A Yatsenko了解详情
无法在其他位置公开访问的文章：3 篇
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia
M Leipoldt, M Erdel, GA Bien‐Willner, M Smyk, M Theurl, SA Yatsenko, ...
Clinical genetics 71 (1), 67-75, 2007
强制性开放获取政策： German Research Foundation
Altered DNA methylation in PAH deficient phenylketonuria
SF Dobrowolski, J Lyons-Weiler, K Spridik, A Biery, J Breck, J Vockley, ...
Molecular Genetics and Metabolism 115 (2-3), 72-77, 2015
强制性开放获取政策： US National Institutes of Health
Female-to-male sex reversal associated with unique Xp21. 2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region
P Dangle, MS Touzon, M Reyes-Múgica, SF Witchel, A Rajkovic, ...
Journal of Medical Genetics 54 (10), 705-709, 2017
强制性开放获取政策： US National Institutes of Health
可在其他位置公开访问的文章：47 篇
X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men
AN Yatsenko, AP Georgiadis, A Röpke, AJ Berman, T Jaffe, M Olszewska, ...
New England Journal of Medicine 372 (22), 2097-2107, 2015
强制性开放获取政策： US National Institutes of Health, German Research Foundation
Noninvasive prenatal diagnosis of a fetal microdeletion syndrome
D Peters, T Chu, SA Yatsenko, N Hendrix, WA Hogge, U Surti, K Bunce, ...
New England Journal of Medicine 365 (19), 1847-1848, 2011
强制性开放获取政策： US National Institutes of Health
Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability
S AlAsiri, S Basit, MA Wood-Trageser, SA Yatsenko, EP Jeffries, U Surti, ...
The Journal of clinical investigation 125 (1), 258-262, 2015
强制性开放获取政策： US National Institutes of Health
Hormad1 Mutation Disrupts Synaptonemal Complex Formation, Recombination, and Chromosome Segregation in Mammalian Meiosis
YH Shin, Y Choi, SU Erdin, SA Yatsenko, M Kloc, F Yang, PJ Wang, ...
PLoS genetics 6 (11), e1001190, 2010
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MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability
MA Wood-Trageser, F Gurbuz, SA Yatsenko, EP Jeffries, LD Kotan, ...
The American Journal of Human Genetics 95 (6), 754-762, 2014
强制性开放获取政策： US National Institutes of Health
Genetics of human female infertility
SA Yatsenko, A Rajkovic
Biology of reproduction 101 (3), 549-566, 2019
强制性开放获取政策： US National Institutes of Health
Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development
M Tannour-Louet, S Han, ST Corbett, JF Louet, S Yatsenko, L Meyers, ...
PloS one 5 (10), e15392, 2010
强制性开放获取政策： US National Institutes of Health
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases
L Shao, CA Shaw, XY Lu, T Sahoo, CA Bacino, SR Lalani, P Stankiewicz, ...
American journal of medical genetics Part A 146 (17), 2242-2251, 2008
强制性开放获取政策： US National Institutes of Health
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
P Szafranski, T Gambin, AV Dharmadhikari, KC Akdemir, SN Jhangiani, ...
Human genetics 135, 569-586, 2016
强制性开放获取政策： US National Institutes of Health
Molecular mechanisms for subtelomeric rearrangements associated with the 9q34. 3 microdeletion syndrome
SA Yatsenko, EK Brundage, EK Roney, SW Cheung, AC Chinault, ...
Human molecular genetics 18 (11), 1924-1936, 2009
强制性开放获取政策： US National Institutes of Health
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies
MF Portnoi, MC Dumargne, S Rojo, SF Witchel, AJ Duncan, C Eozenou, ...
Human molecular genetics 27 (7), 1228-1240, 2018
强制性开放获取政策： US National Institutes of Health, 中国科学院, 国家自然科学基金委员会, UK …
Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men
AN Yatsenko, SA Yatsenko, JW Weedin, AE Lawrence, A Patel, ...
The Journal of urology 183 (4), 1636-1642, 2010
强制性开放获取政策： US National Institutes of Health
Novel 9q34. 11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A
IM Campbell, SA Yatsenko, P Hixson, T Reimschisel, M Thomas, ...
Genetics in medicine 14 (10), 868-876, 2012
强制性开放获取政策： US National Institutes of Health
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene
C Eozenou, N Gonen, MS Touzon, A Jorgensen, SA Yatsenko, L Fusee, ...
Proceedings of the National Academy of Sciences 117 (24), 13680-13688, 2020
强制性开放获取政策： US National Institutes of Health, Cancer Research UK, UK Medical Research …
Novel inactivating mutation of the FSH receptor in two siblings of Indian origin with premature ovarian failure
S Katari, MA Wood-Trageser, H Jiang, E Kalynchuk, R Muzumdar, ...
The Journal of Clinical Endocrinology & Metabolism 100 (6), 2154-2157, 2015
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Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression
E Giorgio, H Rolyan, L Kropp, AB Chakka, S Yatsenko, ED Gregorio, ...
Human mutation 34 (8), 1160-1171, 2013
强制性开放获取政策： US National Institutes of Health, Fondazione Telethon, Italy
Highly heterogeneous genomic landscape of uterine leiomyomas by whole exome sequencing and genome-wide arrays
SA Yatsenko, P Mittal, MA Wood-Trageser, MW Jones, U Surti, ...
Fertility and sterility 107 (2), 457-466. e9, 2017
强制性开放获取政策： US National Institutes of Health
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