Found: 10
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A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett Syndrome.
- Published in:
- 2020
- By:
- Publication type:
- Letter
10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2707, doi. 10.1002/ajmg.a.37211
- By:
- Publication type:
- Article
First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0677-7
- By:
- Publication type:
- Article
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.
- Published in:
- European Journal of Endocrinology, 2013, v. 167, n. 1, p. K1, doi. 10.1530/EJE-12-0701
- By:
- Publication type:
- Article
The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population.
- Published in:
- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0474-y
- By:
- Publication type:
- Article
A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 3, p. 288, doi. 10.1111/cge.13799
- By:
- Publication type:
- Article
Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0149-0
- By:
- Publication type:
- Article
Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0130-y
- By:
- Publication type:
- Article
An Evaluation of the Stemness, Paracrine, and Tumorigenic Characteristics of Highly Expanded, Minimally Passaged Adipose-Derived Stem Cells.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0162332
- By:
- Publication type:
- Article
Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1147, doi. 10.1002/ajmg.a.33938
- By:
- Publication type:
- Article