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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia |
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Titel: |
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia |
Auteur: |
Yap, Zheng Yie Efthymiou, Stephanie Seiffert, Simone Vargas Parra, Karen Lee, Sukyeong Nasca, Alessia Maroofian, Reza Schrauwen, Isabelle Pendziwiat, Manuela Jung, Sunhee Bhoj, Elizabeth Striano, Pasquale Mankad, Kshitij Vona, Barbara Cuddapah, Sanmati Wagner, Anja Alvi, Javeria Raza Davoudi-Dehaghani, Elham Fallah, Mohammad-Sadegh Gannavarapu, Srinitya Lamperti, Costanza Legati, Andrea Murtaza, Bibi Nazia Nadeem, Muhammad Shahid Rehman, Mujaddad Ur Saeidi, Kolsoum Salpietro, Vincenzo von Spiczak, Sarah Sandoval, Abigail Zeinali, Sirous Zeviani, Massimo Reich, Adi Jang, Cholsoon Helbig, Ingo Barakat, Tahsin Stefan Ghezzi, Daniele Leal, Suzanne M. Weber, Yvonne Houlden, Henry Yoon, Wan Hee |
Verschenen in: |
The American journal of human genetics |
Paginering: |
Jaargang 108 () nr. 12 pagina's 2368-2384 |
Jaar: |
2021 |
Inhoud: |
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Uitgever: |
American Society of Human Genetics |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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