Genetics in Medicine

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Role of POLE and POLD1 in familial cancer
Genetics in Medicine - Tập 22 - Trang 2089-2100 - 2020
Pilar Mur, Sandra García-Mulero, Jesús del Valle, Lorena Magraner-Pardo, August Vidal, Marta Pineda, Giacomo Cinnirella, Edgar Martín-Ramos, Tirso Pons, Adriana López-Doriga, Sami Belhadj, Lidia Feliubadaló, Pau M. Munoz-Torres, Matilde Navarro, Elia Grau, Esther Darder, Gemma Llort, Judit Sanz, Teresa Ramón y Cajal, Judith Balmana
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Genetics in Medicine - Tập 25 - Trang 100314 - 2023
Georg F. Vogel, Yael Mozer-Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, René G. Feichtinger, Johannes A. Mayr, Heiko Brennenstuhl, Julian Schröter, Agnes Pechlaner, Fowzan S. Alkuraya, Joshua J. Baker, Giulia Barcia, Ivo Baric, Nancy Braverman, Birute Burnyte, John Christodoulou, Elzbieta Ciara, David Coman, Anibh M. Das
Structural anomalies revealed by neuroimaging studies in the brains of patients with neurofibromatosis type 1 and large deletions
Genetics in Medicine - Tập 1 - Trang 136-140 - 1999
Bruce R. Korf, Gretchen Schneider, Tina Young Poussaint
Correction: The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review
Genetics in Medicine - Tập 22 - Trang 1570 - 2020
Nick Dragojlovic, Kennedy Borle, Nicola Kopac, Ursula Ellis, Patricia Birch, Shelin Adam, Jan M. Friedman, Amy Nisselle, Alison M. Elliott, Jehannine Austin, Bartha Knoppers, Larry D. Lynd, Alivia Dey, Nick Bansback, Lorne Clarke, Jan Friedman, Debby Lambert
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias
Genetics in Medicine - Tập 18 Số 4 - Trang 386-395 - 2016
Irini Manoli, Jennifer Myles, Jennifer L. Sloan, Oleg A. Shchelochkov, Charles P. Venditti
Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study
Genetics in Medicine - Tập 21 - Trang 2407 - 2019
Hila Milo Rasouly, Julia Wynn, Maddalena Marasa, Rachel Reingold, Debanjana Chatterjee, Sheena Kapoor, Stacy Piva, Byum Hee Kil, Xueru Mu, Maria Alvarez, Jordan Nestor, Karla Mehl, Anya Revah-Politi, Natalie Lippa, Michelle E. Ernst, Louise Bier, Aileen Espinal, Bianca Haser, Anoushka Sinha, Ian Halim
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
Genetics in Medicine - Tập 21 - Trang 1851-1867 - 2019
Nicola Longo, David Dimmock, Harvey Levy, Krista Viau, Heather Bausell, Deborah A. Bilder, Barbara Burton, Christel Gross, Hope Northrup, Fran Rohr, Stephanie Sacharow, Amarilis Sanchez-Valle, Mary Stuy, Janet Thomas, Jerry Vockley, Roberto Zori, Cary O. Harding
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
Genetics in Medicine - Tập 23 - Trang 1202-1210 - 2021
Víctor Faundes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Bjornsson, Lisa Bradley, Angela F. Brady, Elise Brischoux-Boucher, Han Brunner, Saskia Bulk, Natalie Canham, Declan Cody, Maria Lisa Dentici, Maria Cristina Digilio, Frances Elmslie, Andrew E. Fry, Harinder Gill, Jane Hurst, Diana Johnson, Sophie Julia
The on-line promotion and sale of nutrigenomic services
Genetics in Medicine - Tập 10 - Trang 784-796 - 2008
Rene Sterling
Frequency of truncating FLCN variants and Birt-Hogg-Dubé–associated phenotypes in a health care system population
Genetics in Medicine - Tập 24 - Trang 1857-1866 - 2022
Juliann M. Savatt, Hermela Shimelis, Andres Moreno-De-Luca, Natasha T. Strande, Matthew T. Oetjens, David H. Ledbetter, Christa Lese Martin, Scott M. Myers, Brenda M. Finucane
Tổng số: 1,748   
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