Detalhe da pesquisa
1.
Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes.
J Pediatr Hematol Oncol
; 43(5): e727-e735, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32947577
2.
Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome.
Am J Med Genet A
; 182(8): 1865-1872, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32618096
3.
Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features.
Am J Med Genet A
; 182(5): 1230-1235, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32022420
4.
Follicle-stimulating hormone regulates expression and activity of epidermal growth factor receptor in the murine ovarian follicle.
Proc Natl Acad Sci U S A
; 111(47): 16778-83, 2014 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25385589
5.
Follicle-Stimulating Hormone Increases Gap Junctional Communication Between Somatic and Germ-Line Follicular Compartments During Murine Oogenesis.
Biol Reprod
; 93(2): 47, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26063870
6.
Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database.
Front Genet
; 14: 1177204, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37214420
7.
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
J Neuromuscul Dis
; 9(1): 193-210, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34602496
8.
Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.
Genes (Basel)
; 12(10)2021 09 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34680914
9.
Epidermal growth factor receptor signaling uncouples germ cells from the somatic follicular compartment at ovulation.
Nat Commun
; 12(1): 1438, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33664246
10.
Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.
Mol Syndromol
; 12(6): 342-350, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34899143
11.
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3.
Eur J Med Genet
; 63(5): 103869, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32006683
12.
A Report on a Family with TMTC3-Related Syndrome and Review.
Case Rep Med
; 2020: 7163038, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33293961
13.
The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency.
J Pediatr Genet
; 8(3): 172-178, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31406627
14.
A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).
Eur J Med Genet
; 62(11): 103576, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30423442
15.
Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review.
J Pediatr Genet
; 8(4): 252-256, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31687267
16.
Active Fluctuations of the Nuclear Envelope Shape the Transcriptional Dynamics in Oocytes.
Dev Cell
; 51(2): 145-157.e10, 2019 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607652
17.
Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation.
Mol Syndromol
; 10(4): 219-222, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31602195
18.
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?
Mol Syndromol
; 9(6): 319-323, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30800049
19.
Growth In Vitro of Granulosa Cell-Oocyte Complexes of the Mouse.
Methods Mol Biol
; 1818: 1-11, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961249
20.
Mammalian Oocytes Locally Remodel Follicular Architecture to Provide the Foundation for Germline-Soma Communication.
Curr Biol
; 28(7): 1124-1131.e3, 2018 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29576478