Detalhe da pesquisa
1.
Genetic literacy among primary care physicians in a resource-constrained setting.
BMC Med Educ
; 24(1): 140, 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38350948
2.
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
Genet Med
; 25(8): 100884, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37161864
3.
Reducing Sanger confirmation testing through false positive prediction algorithms.
Genet Med
; 23(7): 1255-1262, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33767343
4.
Recommended measures for the efficient care of patients with genetic disorders during the COVID-19 pandemic in low and middle income countries.
Am J Med Genet A
; 182(12): 2841-2846, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33067931
5.
Does dietary folic acid supplementation in mouse NTD models affect neural tube development or gamete preference at fertilization?
BMC Genet
; 15: 91, 2014 Aug 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-25154628
6.
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
bioRxiv
; 2023 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36711854
7.
Functional interactions between the LRP6 WNT co-receptor and folate supplementation.
Hum Mol Genet
; 19(23): 4560-72, 2010 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20843827
8.
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
Mol Genet Metab
; 107(3): 394-402, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23021068
9.
Mapping the Diverse Genetic Disorders and Rare Diseases Among the Syrian Population: Implications on Refugee Health and Health Services in Host Countries.
J Immigr Minor Health
; 22(6): 1347-1367, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32172498
10.
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
NPJ Genom Med
; 9(1): 23, 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538605
11.
A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.
J Community Genet
; 6(1): 83-105, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25261319
12.
Assays of pyruvate dehydrogenase complex and pyruvate carboxylase activity.
Methods Mol Biol
; 837: 93-119, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22215543