Loại tài liệu:    Chỉ tìm trong: 
41-50 trong số 75 kết quả
Unique DUP-TRP/INV-DUP Structure Detected by Long-Read Sequencing
Tác giả: Rina Shimomura, Keiko Shimojima Yamamoto, Mutsuki Nakano, Takahiro Tayama, Tatsuo Mori, Eriko Nishi, Ken Inoue, Satoru Nagata, Nobuhiko Okamoto, Toshiyuki Yamamoto
Xuất bản: United States: American journal of medical genetics. Part A , 2025
Bộ sưu tập: NCBI
ddc:  364.253
 
A Mosaic Hotspot PLCD1 Variant, Detectable in Blood-Derived DNA, Associated With Nevus Trichilemmocysticus
Tác giả: Leanne de Kock, Macarena Nougues, Madeline Couse, Wendy Mears, Alison J Eaton, Kristin D Kernohan, Margarita Larralde, Kym M Boycott
Xuất bản: United States: American journal of medical genetics. Part A , 2025
Bộ sưu tập: NCBI
ddc:  972.9505
 
Growth and Growth-Promoting Treatments in Turner Syndrome
Tác giả: Roopa Kanakatti Shankar, Charmian A Quigley, Tsuyoshi Isojima, Nelly Mauras, Steven D Chernausek, Malgorzata Wasniewska, Theo C J Sas
Xuất bản: United States: American journal of medical genetics. Part C, Seminars in medical genetics , 2025
Bộ sưu tập: NCBI
ddc:  594.38
 
Breakthroughs and makeovers in medically assisted reproduction: the precarious proposition availed by translational rese...
Tác giả: David F Albertini
Xuất bản: Netherlands: Journal of assisted reproduction and genetics , 2025
Bộ sưu tập: NCBI
ddc:  363.34929
 
Efficacy of Transitioning from Alglucosidase Alfa to Avalglucosidase Alfa in Infantile-Onset Pompe Disease: A Single-Cen...
Tác giả: Yin-Hsuan Chien, Hui-An Chen, Rai-Hseng Hsu, Chien-Hua Yeh, Ching-Ya Fang, Ni-Chung Lee, Wuh-Liang Hwu, Yin-Hsiu Chien
Xuất bản: United States: Genetics in medicine : official journal of the American College of Medical Genetics , 2025
Bộ sưu tập: NCBI
ddc:  636.0885
 
Feasibility of Using Patient Navigation to Improve Identification of Hereditary Cancer Syndromes in Newly Diagnosed Colo...
Tác giả: Emma Sears, Jacky Dahlquist, Sarah Stayman, Cynthia Ko, Eric Q Konnick, Allison Cole, Ying Zhang, Marlana Kohn, Vida Henderson, Sarah Knerr
Xuất bản: United States: Genetics in medicine : official journal of the American College of Medical Genetics , 2025
Bộ sưu tập: NCBI
ddc:  306.4846
 
Mainstreaming improved adoption of germline testing for Veterans Affairs patients with metastatic prostate cancer withou...
Tác giả: Maren T Scheuner, Katherine J Hoggatt, Emily E Ziegler, Andrea J Stoddard, Carolyn Menendez, Tori Foote, Kerry Rowe, Gina McWhirter, Michael J Kelley, Paloma Sales, Barbara Lerner, Eva Ferino, Morgan Danowski, Ning Zhang, Colin Purmal, Samuel L Washington, Michael M Goodman
Xuất bản: United States: Genetics in medicine : official journal of the American College of Medical Genetics , 2025
Bộ sưu tập: NCBI
ddc:  628.16841
 
ClinGen recuration of hearing loss associated-genes demonstrates significant changes in gene-disease validity over time
Tác giả: Kezang C Tshering, Marina T DiStefano, Amal Aburyyan, John Alexander, Victoria Albano, Donglin Bai, Kevin Ta Booth, Paula I Buonfiglio, Cherine Charfeddine, Viviana Dalamón, Ignacio Del Castillo, Miguel Angel Moreno-Pelayo, Andrea M Oza, Hatice Duzkale, Ben Dorshorst, Rabia Faridi, Margaret Kenna, Morag A Lewis, Minjie Luo, Yu Lu, Rahma Mkaouar, Tatsuo Matsunaga, Kiyomitsu Nara, Pamela Ajuyah, Arti Pandya, Shelby Redfield, Isabelle Roux, Lisa A Schimmenti, Isabelle Schrauwen, Sherin Shaaban, Jun Shen, Barbara Vona, Richard J Smith, Heidi L Rehm, Ryan Webb, Hela Azaiez, Ahmad N Abou Tayoun, Sami S Amr, Enyonam Edoh, Ellie Broeren, Julie Ratliff, Vanessa Gitau, Kelley Paris
Xuất bản: United States: Genetics in medicine : official journal of the American College of Medical Genetics , 2025
Bộ sưu tập: NCBI
ddc:  611.0187
 
How do parents decide on genetic testing in pediatrics? A systematic review
Tác giả: Elena Sophia Doll, Seraina Petra Lerch, Beate Ditzen, Katja Maria Schmalenberger, Karla Alex, Stefan Kölker, Heiko Brennenstuhl, Stacey Pereira, Hadley Smith, Eva C Winkler, Julia Mahal
Xuất bản: United States: Genetics in medicine : official journal of the American College of Medical Genetics , 2025
Bộ sưu tập: NCBI
ddc:  155.646
 
Parents' Perceptions of the Utility of Genetic Testing in the NICU
Tác giả: Katharine Press Callahan, Rebecca Mueller, Steven Joffe, Cara Skraban, Nancy Spinner, Karen Crew, Justin Clapp, David Munson, Chris Feudtner
Xuất bản: United States: Genetics in medicine : official journal of the American College of Medical Genetics , 2025
Bộ sưu tập: NCBI
ddc:  155.646
 

Truy cập nhanh danh mục