Výsledky vyhledávání - Rachel Michaelson‐Cohen
- Zobrazuji výsledky 1 - 4 z 4
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Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome Autor Sarah B. Pierce, Ksenija Geršak, Rachel Michaelson‐Cohen, Tom Walsh, Ming K. Lee, Daniel Malach, Rachel E. Klevit, Mary‐Claire King, Ephrat Levy‐Lahad
Vydáno 2013Artigo -
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Care after premenopausal risk‐reducing salpingo‐oophorectomy in high‐risk women: Scoping review and international consensus recommendations Autor Denise Nebgen, Susan M. Domchek, Joanne Kotsopoulos, Joanne A. de Hullu, Emma J. Crosbie, Vincent Singh Paramanandam, Monique M.A. Brood-van Zanten, Barbara M. Norquist, Theresa A. Guise, Serge Rozenberg, Allison W. Kurian, Holly J. Pederson, Nesé Yuksel, Rachel Michaelson‐Cohen, Sharon L. Bober, Agnaldo Lopes da Silva Filho, Nora Johansen, F Guidozzi, D. Gareth Evans, Usha Menon, Sheryl A. Kingsberg, C. Bethan Powell, Giovanni Grandi, Cláudia Marchetti, Michelle Jacobson, Donal J. Brennan, Martha Hickey
Vydáno 2023Artigo -
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Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy Autor Melanie Brugger, Antonella Lauri, Zhen Yan, Laura Ludovica Gramegna, Benedikt Zott, Nikolina Sekulić, Giulia Fasano, Robert Kopajtich, Viviana Cordeddu, Francesca Clementina Radio, Cecilia Mancini, Simone Pizzi, Graziamaria Paradisi, Ginevra Zanni, Gessica Vasco, Rosalba Carrozzo, Flavia Palombo, Caterina Tonon, Raffaele Lodi, Chiara La Morgia, Maria Arélin, Cristiane Blechschmidt, Tom Finck, Vigdis Sørensen, Kornelia Kreiser, Gertrud Strobl‐Wildemann, Hagit Daum, Rachel Michaelson‐Cohen, Lucia Ziccardi, Giuseppe Zampino, Holger Prokisch, Rami Abou Jamra, Claudio Fiorini, Thomas Arzberger, Juliane Winkelmann, Leonardo Caporali, Valério Carelli, Harald Stenmark, Marco Tartaglia, Matias Wagner
Vydáno 2024Artigo
Vyhledávací nástroje:
Související témata
Medicine
Internal medicine
Biology
Disease
Gene
Genetics
Gynecology
Mutation
Atrophy
Audiology
BRCA mutation
Cancer
Encephalopathy
Endocrinology
Epilepsy
Hearing loss
Infertility
Intensive care medicine
Mitochondrial DNA
Nursing
Oncology
Ovarian cancer
Ovarian reserve
Pathology
Pregnancy
Premature ovarian failure
Psychiatry
Quality of life (healthcare)
RNA
Transfer RNA