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61-70 trong số 75 kết quả
Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and revi...
Tác giả: Kristin D Kernohan, Michelle M Axford, Pranesh Chakraborty, Sharon L Cushing, Lauren Gallagher, Melanie Lacaria, Johnna MacCormick, Vicky Papaioannou, Marie Pigeon, Nada Quercia, Charles Rupar, Stacey Weber, Ed Yeh, Kim Zimmerman
Xuất bản: United States: Genetics in medicine : official journal of the American College of Medical Genetics , 2025
Bộ sưu tập: NCBI
ddc:  362.177
 
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy
Tác giả: Jonathan De Winter, Jonathan Baets, Sarah Beecroft, Gisèle Bonne, Carsten G Bonnemann, Anita Cairns, Enzo Cohen, Willem De Ridder, Florence Demurger, Jordi Diaz-Manera, Sandra Donkervoort, Biljana Ermanoska, Kevin M Flanigan, Chiara Folland, Tiffany Grider, Peter Hackman, Arnaud Isapof, Mridul Johari, Regina Laine, Cheryl Longman, Isabelle Maystadt, Catherine A McWilliam, Alayne P Meyer, Alice Monticelli, Stefan Nicolau, Rotem Orbach, Johanna Palmio, Gina Ravenscroft, Adriana Rebelo, Michael E Shy, Tanya Stojkovic, Volker Straub, Ana Töpf, Bjarne Udd, Liedewei Van de Vondel, Sumit Verma, Megan A Waldrop, Stephan Züchner
Xuất bản: United States: Genetics in medicine : official journal of the American College of Medical Genetics , 2025
Bộ sưu tập: NCBI
ddc:  006.31
 
Biallelic null variants in C19orf44 cause a unique late onset retinal dystrophy phenotype characterized by patchy perifo...
Tác giả: Miriam Ehrenberg, Maayan Avraham, Antonio Rivera, Andrew R Webster, Carlo Rivolta, Hadas Newman, Eran Pras, Ygal Rotenstreich, Eyal Banin, Eric A Pierce, Dinah Zur, Gavin Arno, Sandeep Sarma Asodu, Kinga M Bujakowska, Siying Lin, Dror Sharon, Tamar Ben-Yosef, Abigail R Moye, Riccardo Sangermano, Leah Rizel, Tahleel Ali-Nasser, Ifat Sher, David Gurwitz, Katherine R Chao
Xuất bản: United States: Genetics in medicine : official journal of the American College of Medical Genetics , 2025
Bộ sưu tập: NCBI
ddc:  949.59012
 
Response to Alkuraya
Tác giả: Hosneara Akter, Nasna Nassir, Mohammed Uddin
Xuất bản: United States: Genetics in medicine : official journal of the American College of Medical Genetics , 2025
Bộ sưu tập: NCBI
ddc:  598.34
 
Assessing the impact of medically assisted reproduction on autism spectrum disorder risk: The current scientific knowled...
Tác giả: Yves J R Menezo, Kay Elder
Xuất bản: Netherlands: Journal of assisted reproduction and genetics , 2025
Bộ sưu tập: NCBI
ddc:  133.426
 
Independent inheritance of cognition and bipolar disorder in a family sample
Tác giả: Alexander D'Amico, Nirmala Akula, Alejandro Arbona-Lampaya, Emily Besançon, Dwight Dickinson, Ally Freifeld, Joshua Garcia, Katie Hosey, Layla Kassem, Emma E M Knowles, Ley Lacbawan, Francis J McMahon, Heejong Sung
Xuất bản: United States: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics , 2025
Bộ sưu tập: NCBI
ddc:  553.453
 
Reconsidering the Genetic Overlap Between Cognition and Bipolar Disorder: A Commentary on D'Amico et al.'s Family Study
Tác giả: Lien-Chung Wei, Hsien-Jane Chiu
Xuất bản: United States: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics , 2025
Bộ sưu tập: NCBI
ddc:  671.373
 
A Pilot Study to Assess the Impact of a Multifactorial Explanation for Mental Illness on Prejudicial Attitudes Towards P...
Tác giả: Hailey A Segall, Amber M Aeilts, Dawn C Allain, Jehannine C Austin, Danielle M Dick, Abigail B Shoben
Xuất bản: United States: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics , 2025
Bộ sưu tập: NCBI
ddc:  146.7
 
New Insights Into TRMT10A Syndrome: Case Report and Literature Review
Tác giả: Graziana Ceraolo, Ambra Butera, Francesco Calì, Gabriella Di Rosa, Antonino Musumeci, Antonio Gennaro Nicotera, Maria Spanò, Giulia Spoto, Mirella Vinci, Girolamo Aurelio Vitello
Xuất bản: United States: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics , 2025
Bộ sưu tập: NCBI
ddc:  496.3374
 
Optimizing the Prediction of Depression Remission: A Longitudinal Machine Learning Approach
Tác giả: Ewan Carr, Katherine J Aitchison, Anne Farmer, Neven Henigsberg, Raquel Iniesta, Wolfgang Maier, Peter McGuffin, Ole Mors, Marcella Rietschel, Rudolf Uher
Xuất bản: United States: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics , 2025
Bộ sưu tập: NCBI
ddc:  553.3
 

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