Bibliotecas PUC-SP - Busca Integrada

P870: Racial disparity in the diagnosis of mitochondrial disease

অনুযায়ী Daniel McGinn, Colleen Muraresku, Kathleen Valverde, Marni Falk, Rebecca Ganetzky
প্রকাশিত Genetics in Medicine Open (2024-01-01)

The Long-Term Postural Orthostatic Tachycardia Syndrome Outcomes Survey-Gynecologic Findings: A Cross-Sectional Survey in Young Women

অনুযায়ী Jeffrey R. Boris, Edward C. Shadiack, Elizabeth M. McCormick, Laura E. MacMullen, Ibrahim George-Sankoh, Frances Fitzgerald, Marni Falk
প্রকাশিত Obstetrics and Gynecology International (2025-01-01)

P704: A virtual registry of 9K Leigh syndrome and primary mitochondrial disease cases constructed through semi-automated literature mining and expert curation

অনুযায়ী Lishuang Shen, Marie Lott, Elizabeth McCormick, Colleen Muraresku, Kierstin Keller, Douglas Wallace, Zarazuela Zolkipli-Cunningham, Shamima Rahman, Marni Falk, Xiaowu Gai
প্রকাশিত Genetics in Medicine Open (2025-01-01)

P581: Multiple mitochondrial DNA deletions in patients with myopathy

অনুযায়ী Jing Wang, Ada Chan, James Peterson, Kathleen Wood, Maria Alejandra Diaz-Miranda, Archana Tara, Amy Goldstein, Zarazuela Zolkipli-Cunningham, Elizabeth M. McCormick, Colleen Muraresku, Matthew Dulik, Douglas Wallace, Marni Falk
প্রকাশিত Genetics in Medicine Open (2023-01-01)

Kagami Ogata syndrome: a small deletion refines critical region for imprinting

অনুযায়ী Gonench Kilich, Kelly Hassey, Edward M. Behrens, Marni Falk, Adeline Vanderver, Daniel J. Rader, Patrick J. Cahill, Anna Raper, Zhe Zhang, Dawn Westerfer, Tanaya Jadhav, Laura Conlin, Kosuke Izumi, Ramakrishnan Rajagopalan, Kathleen E. Sullivan, UDN Consortium
প্রকাশিত npj Genomic Medicine (2024-01-01)