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human mutation

Indexings
scopus ncbi ulakbim sci
Short Name hum mutat
Abbreviated Name hum mutat
ISSN 1098-1004
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Publications Per Year

Recent Articles (26 total)

2019
Xq22 deletions and correlation with distinct neurological disease traits in females: further evidence for a contiguous gene syndrome.
Hijazi, Hadia;Coelho, Fernanda S;Gonzaga-Jauregui, Claudia;Bernardini, Laura;Mar, Soe S;Manning, Melanie A;Hanson-Kahn, Andrea;Naidu, SakkuBai;Srivastava, Siddharth;Lee, Jennifer A;Jones, Julie R;Friez, Michael J;Alberico, Thomas;Torres, Barbara;Fang, Ping;Cheung, Sau Wai;Song, Xiaofei;Davis-Williams, Angelique;Jornlin, Carly;Wight, Patricia A;Patyal, Pankaj;Taube, Jennifer;Poretti, Andrea;Inoue, Ken;Zhang, Feng;Pehlivan, Davut;Carvalho, Claudia M B;Hobson, Grace M;Lupski, James R;
272 views DOI Abstract
2019
The CYSMA web server: an example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders.
Sasorith, Souphatta;Baux, David;Bergougnoux, Anne;Paulet, Damien;Lahure, Alan;Bareil, Corinne;Taulan-Cadars, Magali;Roux, Anne-Françoise;Koenig, Michel;Claustres, Mireille;Raynal, Caroline;
272 views DOI Abstract
2019
De Novo GRIN Variants in NMDA Receptor M2 Channel Pore-Forming Loop Are Associated with Neurological Diseases.
Li, Jia;Zhang, Jin;Tang, Weiting;Mizu, Ruth K;Kusumoto, Hirofumi;XiangWei, Wenshu;Xu, Yuchen;Chen, Wenjuan;Amin, Johansen B;Perozo, Eduardo;Hu, Chun;Kannan, Varun;Keller, Stephanie R;Wilcox, William R;Lemke, Johannes R;Myers, Scott J;Swanger, Sharon A;Wollmuth, Lonnie P;Petrovski, Slavé;Traynelis, Stephen F;Yuan, Hongjie;
260 views DOI Abstract
2019
A Substantial Proportion of Apparently Heterozygous TP53 Pathogenic Variants Detected with a Next-Generation Sequencing Hereditary Pan-Cancer Panel Are Acquired Somatically.
Coffee, Bradford;Cox, Hannah C;Bernhisel, Ryan;Manley, Susan;Bowles, Karla;Roa, Benjamin B;Mancini-DiNardo, Debora;
237 views DOI Abstract
2019
Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017.
Liu, Zhidai;Yu, Chaowen;Li, Qingge;Cai, Ren;Qu, Yiping;Wang, Weipeng;Wang, Jie;Feng, Jinwen;Zhu, Wenbin;Ou, Mingcai;Huang, Weitong;Tang, Deguo;Guo, Wei;Liu, Fangjie;Chen, Yanhua;Fu, Lifang;Zhou, Yanxia;Lv, Wenqiong;Zhang, Hang;Zhang, Juan;Wang, Ming;Yang, Jing;Wan, Kexing;Miao, Jingkun;Yuan, Zhaojian;Liu, Hao;He, Xiaoyan;Li, Wenjie;Chen, Wengao;Ye, Lixin;Chen, Yajun;Huang, Shuodan;Liu, Haiping;Ding, Hongxiang;Gan, Xinhui;Wang, Shuyuan;Qiang, Rong;Gong, Minhong;Teng, Ping;Wang, Hua;Zhou, Muping;Wei, Hongwei;Liu, Xiangju;Tang, Kai;Ma, Yahong;Wu, Hongliang;Shu, Xiaoli;Chen, Yizhen;Zhuang, Danyan;Li, Hui;Liu, Zhi;Liu, Xiulian;Chen, Yao;Zhu, Lidan;Zhu, Xiaoyan;Mo, Caihong;Tang, Hua;Yin, Feng;Shao, Zhibing;Zhang, Penghui;Peng, Bin;Lu, Qing;Wang, Zhiguo;Zou, Lin;
236 views DOI Abstract
2019
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Himmelreich, Nastassja;Dimitrov, Bianca;Geiger, Virginia;Zielonka, Matthias;Hutter, Anna-Marlen;Beedgen, Lars;Hüllen, Andreas;Breuer, Maximilian;Peters, Verena;Thiemann, Kai-Christian;Hoffmann, Georg F;Sinning, Irmgard;Dupré, Thierry;Vuillaumier-Barrot, Sandrine;Barrey, Catherine;Denecke, Jonas;Kölfen, Wolfgang;Düker, Gesche;Ganschow, Rainer;Lentze, Michael J;Moore, Stuart;Seta, Nathalie;Ziegler, Andreas;Thiel, Christian;
Vol. 40 , No. 7 , pp. 938-951
234 views DOI Abstract
2020
FANCL gene mutations in premature ovarian insufficiency.
Yang, Yajuan;Guo, Ting;Liu, Ran;Ke, Hanni;Xu, Weiwei;Zhao, Shidou;Qin, Yingying;
231 views DOI Abstract
2019
A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2.
Karsak, Meliha;Glebov, Konstantin;Scheffold, Marina;Bajaj, Thomas;Kawalia, Amit;Karaca, Ilker;Rading, Sebastian;Kornhuber, Johannes;Peters, Oliver;Diez-Fairen, Monica;Frölich, Lutz;Hüll, Michael;Wiltfang, Jens;Scherer, Martin;Riedel-Heller, Steffi;Schneider, Anja;Heneka, Michael T;Fliessbach, Klaus;Sharaf, Ahmed;Thiele, Holger;Lennarz, Martina;Jessen, Frank;Maier, Wolfgang;Kubisch, Christian;Ignatova, Zoya;Nürnberg, Peter;Pastor, Pau;Walter, Jochen;Ramirez, Alfredo;
229 views DOI Abstract
2020
A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India
Donovan, F.X.
Vol. 41 , pp. 122-128
222 views DOI
2011
the politics of reproductive health rights in uruguay: why the presidential veto (*) to the right to abortion is illegitimate (**)
;BANFI-VIQUE, Analía;CABRERA, Oscar A.;GÓMEZ-LUGO, Fanny;HEVIA, Martin
Vol. 12 , No. 2 , pp. 178-205
190 views Abstract
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