A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability-Reference-Cited by-同舟云学术

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A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability

Published:2020-08-26 Issue:3 Volume:98 Page:288-292
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Hamdan Nadine¹,Mehawej Cybel¹,Sebaaly Ghada²,Jalkh Nadine¹,Corbani Sandra¹,Abou‐Ghoch Joelle¹,De Backer O.³,Chouery Eliane¹^ORCID

Affiliation:

1. Medical Genetics Unit, Faculty of MedicineSaint Joseph University Beirut Lebanon

2. Endocrinology DepartmentBellevue Medical Center Mansourieh Lebanon

3. URPHYM (Unité de Recherche en Physiologie Moléculaire), NARILIS (Namur Research Institute for Life Sciences)Université de Namur Namur Belgium

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13799

Reference24 articles.

1. A clinical approach to developmental delay and intellectual disability

2. Intellectual Disabilities

3. Advances in understanding – genetic basis of intellectual disability

4. Developmental aspects of environmental neurotoxicology: Lessons from lead and polychlorinated biphenyls

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1. A pangenome reference of 36 Chinese populations;Nature;2023-06-14

2. Does the Number of Publications Matter for Academic Promotion in Higher Education? Evidence from Lebanon;Social Sciences;2022-10-03

3. Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease;Biochemical Society Transactions;2021-07-09

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