Journal articles
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?
Pratibha Nair
1
Maher Lama
2
Stephany El-Hayek
1
Gretta Abou Sleymane
3
Samantha Stora
4
Marc Obeid
3
Mahmoud Al-Ali
1
Valérie Delague
5
André Mégarbané
4
Samantha Stora 4
Author
Marc Obeid 3
Author
Mahmoud Al-Ali 1
Author
Valérie Delague 5
Author IdHAL : valerie-delague ResearcherId : http://www.researcherid.com/rid/K-5837-2013 ORCID : https://orcid.org/0000-0003-2652-362X
André Mégarbané 4
Author
1
CAGS - Center for arab genomic studies (United Arab Emirates)
2
Pediatric Department, El Rassoul Hospital (Beirut
Lebanon - Lebanon)
- El Rassoul Hospital (Beirut Lebanon - Lebanon)
3
Department of Laboratory Science and Technology (Beirut, Lebanon - Lebanon)
- AUST - American University of Science and Technology (Alfred Naccache Avenue, P.O. Box 16-6452, Beirut, Lebanon - Lebanon)
4
Institut Jérôme Lejeune (37 rue des volontaires 75015 PARIS - France)
5
MMG - Marseille medical genetics - Centre de génétique médicale de Marseille (Faculté de Médecine - Timone
27, boulevard Jean Moulin
13385 Marseille cedex 5 - France)
- AMU - Aix Marseille Université : UMR_S1251 (Aix-Marseille Université Jardins du Pharo 58 Boulevard Charles Livon 13284 Marseille cedex 7 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : UMR_S1251 (101, rue de Tolbiac, 75013 Paris - France)
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Journal articles
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https://hal-amu.archives-ouvertes.fr/hal-03147686
Contributor : Valérie Delague Connect in order to contact the contributor
Submitted on : Saturday, February 20, 2021 - 3:49:25 PM
Last modification on : Wednesday, November 3, 2021 - 7:28:01 AM
Contributor : Valérie Delague Connect in order to contact the contributor
Submitted on : Saturday, February 20, 2021 - 3:49:25 PM
Last modification on : Wednesday, November 3, 2021 - 7:28:01 AM
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- HAL Id : hal-03147686, version 1
- DOI : 10.1159/000494465
Citation
Pratibha Nair, Maher Lama, Stephany El-Hayek, Gretta Abou Sleymane, Samantha Stora, et al.. COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?. Molecular Syndromology, Karger, 2018, 9 (6), pp.319-323. ⟨10.1159/000494465⟩. ⟨hal-03147686⟩
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