المؤلفون: Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen, Mingjuan Liao, Emalyn Elise Cork, Pratishtha Varshney, Narges Hashemi, Mohammad Hasan Mohammadi, Aboulfazl Rad, Juanita Neira, Mehran Beiraghi Toosi, Cordula Knopp, Ingo Kurth, Thomas D. Challman, Rebecca Smith, Asmahan Abdalla, Thomas Haaf, Mohnish Suri, Manali Joshi, Wendy K. Chung, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian, Gaurav K. Varshney

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-24 (2023)

مصطلحات موضوعية: 2-oxo acid dehydrogenase, OGDHL, Genetic compensation, Disease model, Zebrafish, Neurodevelopmental disorders, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/f946c3f7f70a4b7caee99c8a98b2e0b2

المؤلفون: Maha S. Zaki, Wessam E. Sharaf‐Eldin, Karima Rafat, Hasnaa M. Elbendary, Mona Kamel, Nour Elkhateeb, Mahmoud M. Noureldeen, Mohamed A. Abdeltawab, Abdelrahim A. Sadek, Mona L. Essawi, Tracy Lau, David Murphy, Mohamed S. Abdel‐Hamid, Henry Holuden, Mahmoud Y. Issa, Joseph G. Gleeson

المصدر: Clinical Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::86d6dc3c96d4f75640b165f30af96add
https://doi.org/10.1111/cge.14338

المؤلفون: Chiara Klöckner, J Pedro Fernández-Murray, Mahtab Tavasoli, Heinrich Sticht, Gisela Stoltenburg-Didinger, Leila Motlagh Scholle, Somayeh Bakhtiari, Michael C Kruer, Hossein Darvish, Saghar Ghasemi Firouzabadi, Alex Pagnozzi, Anju Shukla, Katta Mohan Girisha, Dhanya Lakshmi Narayanan, Parneet Kaur, Reza Maroofian, Maha S Zaki, Mahmoud M Noureldeen, Andreas Merkenschlager, Janina Gburek-Augustat, Elisa Cali, Selina Banu, Kamrun Nahar, Stephanie Efthymiou, Henry Houlden, Rami Abou Jamra, Jason Williams, Christopher R McMaster, Konrad Platzer

المصدر: Brain

مصطلحات موضوعية: Epilepsy, Neurodevelopmental Disorders, Report, Microcephaly, Choline Kinase, Humans, Neurology (clinical), Nervous System Malformations, Alleles

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6bafae1ef1abf0055fba256b4eba891
https://doi.org/10.1093/brain/awac074

المؤلفون: Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen, Mingjuan Liao, Emalyn Elise Cork, Pratishtha Varshney, Narges Hashemi, Mohammad Hasan Mohammadi, Aboulfazl Rad, Juanita Neira, Mehran Beiraghi Toosi, Cordula Knopp, Ingo Kurth, Thomas D. Challman, Rebecca Smith, Asmahan Abdalla, Thomas Haaf, Mohnish Suri, Manali Joshi, Wendy K. Chung, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian, Gaurav K. Varshney

مصطلحات موضوعية: Genetics, 2-oxo acid dehydrogenase, OGDHL, Genetic compensation, Disease model, Zebrafish, Neurodevelopmental disorders, Mitochondria, Variant testing

Relation: https://figshare.com/articles/dataset/Additional_file_1_of_Evaluating_the_association_of_biallelic_OGDHL_variants_with_significant_phenotypic_heterogeneity/24670002

الاتاحة: https://doi.org/10.6084/m9.figshare.24670002.v1
https://figshare.com/articles/dataset/Additional_file_1_of_Evaluating_the_association_of_biallelic_OGDHL_variants_with_significant_phenotypic_heterogeneity/24670002