Detalhe da pesquisa
1.
A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.
Clin Genet
; 98(3): 288-292, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32578875
2.
A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation.
Hum Genet
; 138(11-12): 1323-1330, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31677132
3.
Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.
BMC Genet
; 18(1): 3, 2017 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28103792
4.
A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett Syndrome.
Mov Disord
; 35(5): 896-899, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196122
5.
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Hum Mutat
; 35(10): 1203-10, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25044680
6.
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
Am J Hum Genet
; 89(3): 415-23, 2011 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-21855841
7.
SMOC1 is essential for ocular and limb development in humans and mice.
Am J Hum Genet
; 88(1): 30-41, 2011 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21194678
8.
Genetic profile of borderline ovarian tumors in the Lebanese population by whole-exome sequencing.
Int J Gynaecol Obstet
; 162(3): 1027-1032, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185951
9.
Genetic Polymorphisms Involved in Bladder Cancer: A Global Review.
Oncol Rev
; 17: 10603, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38025894
10.
Erratum to: Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.
BMC Genet
; 18(1): 9, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28148224
11.
Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy?
Am J Med Genet A
; 158A(5): 1185-9, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22489068
12.
Polygenic and Network-based studies in risk identification and demystification of cancer.
Expert Rev Mol Diagn
; 22(4): 427-438, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35400274
13.
Genetic susceptibility of bladder cancer in the Lebanese population.
BMC Med Genomics
; 15(1): 217, 2022 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36253817
14.
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.
Neurogenetics
; 12(1): 73-8, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20721593
15.
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
Am J Med Genet A
; 155A(4): 880-4, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21416592
16.
Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome.
Am J Med Genet A
; 155A(5): 1147-51, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21465653
17.
Molecular pathogenesis of hereditary lung cancer: a literature review.
Pharmacogenomics
; 22(12): 791-803, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34410147
18.
Molecular profiling of basal cell carcinomas in young patients.
BMC Med Genomics
; 14(1): 187, 2021 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34284772
19.
1Novel MEFV transcripts in Familial Mediterranean fever patients and controls.
BMC Med Genet
; 11: 87, 2010 Jun 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20534143
20.
Actionable Exomic Secondary Findings in 280 Lebanese Participants.
Front Genet
; 11: 208, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32231684