Kết quả tìm kiếm - Vipulkumar Patel
- Đang hiển thị 1 - 4 kết quả của 4
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1
Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis Bằng Liesbeth Vossaert, Qun Wang, Roseen Salman, Anne K. McCombs, Vipulkumar Patel, Chunjing Qu, Michael A. Mancini, Dean P. Edwards, Anna Malovannaya, Pengfei Liu, Chad A. Shaw, Brynn Levy, Ronald J. Wapner, Weimin Bi, Amy M. Breman, Ignatia B. Van den Veyver, Arthur L. Beaudet
Được phát hành 2019Artigo -
2
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder Bằng Elizabeth A. Normand, Alicia Braxton, Salma Nassef, Patricia A. Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren Westerfield, Samantha Stover, Avinash V. Dharmadhikari, Donna M. Muzny, Richard A. Gibbs, Hongzheng Dai, Linyan Meng, Xia Wang, Rui Xiao, Pengfei Liu, Weimin Bi, Fan Xia, Magdalena Walkiewicz, Ignatia B. Van den Veyver, Christine M. Eng, Yaping Yang
Được phát hành 2018Artigo -
3
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features Bằng Mari Tokita, Chun‐An Chen, David Chitayat, Ellen F. Macnamara, Jill A. Rosenfeld, Neil A. Hanchard, Andrea M. Lewis, Chester Brown, Ronit Marom, Yunru Shao, Danica Novacic, Lynne A. Wolfe, Colleen E. Wahl, Cynthia J. Tifft, Camilo Toro, Jonathan A. Bernstein, Caitlin L. Hale, Julia Silver, Louanne Hudgins, Amitha Ananth, Andrea Hanson‐Kahn, Shirley Shuster, Pilar Magoulas, Vipulkumar Patel, Wenmiao Zhu, Stella M. Chen, Yanjun Jiang, Pengfei Liu, Christine M. Eng, Dominyka Batkovskyte, Alberto di Ronza, Marco Sardiello, Brendan Lee, Christian P. Schaaf, Yaping Yang, Xia Wang
Được phát hành 2018Artigo -
4
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies Bằng Bo Yuan, Juanita Neira, Davut Pehli̇van, Teresa Santiago‐Sim, Xiaofei Song, Jill A. Rosenfeld, Jennifer E. Posey, Vipulkumar Patel, Weihong Jin, Margaret P Adam, Emma L. Baple, John Dean, Chin‐To Fong, Scott E. Hickey, Louanne Hudgins, Eyby Leon, Suneeta Madan‐Khetarpal, Lettie E. Rawlins, Cecilie F. Rustad, Asbjørg Stray‐Pedersen, Kristian Tveten, Olivia Wenger, Jullianne Diaz, Laura Jenkins, Laura Martin, Marianne McGuire, Marguerite Pietryga, Linda Ramsdell, Leah Slattery, Farida Abid, Alison A. Bertuch, Dorothy K. Grange, LaDonna Immken, Christian P. Schaaf, Hilde Van Esch, Weimin Bi, Sau Wai Cheung, Amy M. Breman, Janice Smith, Chad A. Shaw, Andrew H. Crosby, Christine M. Eng, Yaping Yang, James R. Lupski, Rui Xiao, Pengfei Liu
Được phát hành 2018Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Gene
Genetics
Bioinformatics
Copy-number variation
Exome
Exome sequencing
Fetus
Genome
Medicine
Mutation
Phenotype
Pregnancy
Prenatal diagnosis
Allele
Allelic heterogeneity
Amniocentesis
Andrology
Aneuploidy
Candidate gene
Chorionic villus sampling
Chromosome
Concordance
Cornelia de Lange Syndrome
DNA sequencing
Genetic counseling
Genetic heterogeneity
Genotype
Global developmental delay
Human genetics