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101-110 trong số 122 kết quả
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovari...
Tác giả: Ed M Dicks, Jonthan P Tyrer, Toon Van Gorp, Anna De Fazio, David D L Bowtell, Dale W Garsed, Kunle Odunsi, Kirsten Moysich, Marina Pavanello, Florentia Fostira, Penelope M Webb, Jana Soukupová, Suzana Ezquina, Paul A Cohen, Weiva Sieh, Renée Turzanski Fortner, Charite Ricker, Beth Karlan, Ian Campbell, James D Brenton, Susan J Ramus, Simon A Gayther, Paul D P Pharoah, Michelle Jones, John Baierl, Pei-Chen Peng, Michael Diaz, Ellen Goode, Stacey J Winham, Thilo Dörk
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  001.944
 
Rethinking non-syndromic hearing loss and its mimics in the genomic era
Tác giả: Barbara Vona
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  231.04
 
Origin and evolution of pentanucleotide repeat expansions at the familial cortical myoclonic tremor with epilepsy type1 ...
Tác giả: Xinhui Chen, Fan Zhang, Aisi Fu, Ben Hu, Bo Wang, Zhiyuan Ouyang, Sheng Wu, Zhiru Lin, Zhidong Cen, Wei Luo, Yihua Shi, Haotian Wang, Miao Chen, Dehao Yang, Lebo Wang, Peng Liu, Fei Xie, Jiawen Chen
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  372.65
 
The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates
Tác giả: Rebecca Kriukelis, Michael T Gabbett, Rachael Beswick, Aideen M McInerney-Leo, Carlie Driscoll, Karen Liddle
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  152.1
 
Negotiating severity behind the scenes: prenatal testing in Germany
Tác giả: Tamar Nov-Klaiman, Hilary Bowman-Smart, Ruth Horn
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  331.8912
 
Beyond severity: utility as a criterion for setting the scope of RGCS
Tác giả: Lisa Dive, Anne-Marie Laberge, Lucinda Freeman, Eline M Bunnik
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  497.5543
 
Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliog...
Tác giả: David Haïm, Nathalie Roux, Sarah Vanlieferinghen, Sophie Thomas, Tania Attié-Bitach, Lucile Boutaud, Laure Verlin, Chloé Quélin, Candice Moncler, Nicolas Bourgon, Amale Achaiia, Philippe Roth, Pierre Marijon
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  658.32259
 
Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliog...
Tác giả: David Haïm, Amale Achaiia, Tania Attié-Bitach, Nicolas Bourgon, Lucile Boutaud, Pierre Marijon, Candice Moncler, Chloé Quélin, Philippe Roth, Nathalie Roux, Sophie Thomas, Sarah Vanlieferinghen, Laure Verlin
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  658.32259
 
Human oocyte zona pellucida abnormalities: evaluation of clinical impact for different zona pellucida abnormalities and role of using assisted hatching
Tác giả: Huihui Wang, Guang Yang, Yue Kong, Jiahuan He, Ning Song, Zhaoting Wu, Xianju Huang, Lin Qi, Guidong Yao, Ran Jiang, Jun Zhai, Haixia Jin, Wenyan Song, Senlin Shi, Junnan Fang, Tongwei Zhang, Jingyi Hu
Xuất bản: Netherlands: Journal of assisted reproduction and genetics , 2025
Bộ sưu tập: NCBI
ddc:  299.672
 
Emerging threat of Human Metapneumovirus (HMPV) and strategies for its containment and control
Tác giả: Sridevi Gnanasekaran, Md Abu Bashar, Prabhat Prabhat, Abin K Rajan
Xuất bản: Netherlands: Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases , 2025
Bộ sưu tập: NCBI
ddc:  344.04196
 

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