Loại tài liệu:    Chỉ tìm trong: 
11-20 trong số 33 kết quả
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer
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
 
Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis
Tác giả: Xiaomei Shi, Yanling Huang, Hongke Ding, Lina Zhao, Wei He, Jing Wu
Xuất bản: England: Annals of medicine , 2025
Bộ sưu tập: NCBI
ddc:  943.03
 
Navigating the Challenges of Exome Sequencing in Structurally Normal Fetuses
Tác giả: Sylvie Langlois, Lyn S Chitty
Xuất bản: England: Prenatal diagnosis , 2025
Bộ sưu tập: NCBI
ddc:  262.131
 
The Challenges of Performing Exome Sequencing in Structurally Normal Fetuses
Tác giả: Natalie Chandler, Muriel Holder-Espinasse, Fionnuala Mone
Xuất bản: England: Prenatal diagnosis , 2025
Bộ sưu tập: NCBI
ddc:  306.735
 
Commentary on "Whole Exome Sequencing Reveals Candidate Variants in Ion Channel Genes for Pelvic Muscle Dysfunction in Young Females with a Family History"
Tác giả: Kristina Allen-Brady
Xuất bản: England: International urogynecology journal , 2025
Bộ sưu tập: NCBI
ddc:  070.48346
 
Evaluation of Exome and Genome Sequencing for Critically Ill Pediatric Cardiac Patients
Tác giả: Angela C Onorato, Chance Alvarado, Amee M Bigelow, Bimal P Chaudhari, Vidu Garg, Rachel Gosselin, Peter White
Xuất bản: United States: Research square , 2025
Bộ sưu tập: NCBI
ddc:  572.38
 
Correction: whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features
Tác giả: Atefeh Mir, Hossein Khanahmad, Erfan Khorram, Hane Lee, Jafar Nasiri, Yongjun Song, Mohammad Amin Tabatabaiefar
Xuất bản: England: BMC medical genomics , 2025
Bộ sưu tập: NCBI
ddc:  002.074
 
Whole Exome Sequencing Reveals Candidate Variants in Ion Channel Genes for Pelvic Muscle Dysfunction in Young Females with a Family History
Tác giả: Anna Sadakierska-Chudy, Paweł Szymanowski, Wioletta Katarzyna Szepieniec, Ewa Boniewska-Bernacka, Agnieszka Pollak
Xuất bản: England: International urogynecology journal , 2025
Bộ sưu tập: NCBI
ddc:  526.38
 
Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group
Tác giả: Guillaume Cogan, Marie-Bérengère Troadec, Pascale Saugier-Veber, Françoise Devillard, Marie-Hélène Saint-Frison, David Geneviève, François Vialard, Emmanuelle Rial-Sebbag, Delphine Héron, Tania Attie-Bitach, Alexandra Benachi
Xuất bản: England: Prenatal diagnosis , 2025
Bộ sưu tập: NCBI
ddc:  370.119
 
Whole exome sequencing diagnosing syndromic and non-syndromic hearing loss with expansion of the phenotypic spectrum related to TMC1 variants
Tác giả: Nagham M Elbagoury, Engy A Ashaat, Anas M Askoura, Mona L Essawi, Mona K Mekkawy, Peter M Milad, Ragaey Y Mohamed
Xuất bản: Germany: European journal of pediatrics , 2025
Bộ sưu tập: NCBI
ddc:  794.147
 

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