Detalhe da pesquisa
1.
Genetics of ataxia telangiectasia in a highly consanguineous population.
Ann Hum Genet
; 86(1): 34-44, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34582042
2.
Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.
Clin Genet
; 99(5): 724-731, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33506509
3.
KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.
J Med Genet
; 53(11): 786-792, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27582084
4.
Breast stromal fibroblasts from histologically normal surgical margins are pro-carcinogenic.
J Pathol
; 231(4): 457-65, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24009142
5.
ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis.
J Clin Immunol
; 31(2): 245-52, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21120685
6.
Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.
Am J Med Genet B Neuropsychiatr Genet
; 156B(7): 826-34, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21812104
7.
Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies.
Genet Test Mol Biomarkers
; 25(12): 757-764, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34918981
8.
Integrative and comparative genomics analysis of early hepatocellular carcinoma differentiated from liver regeneration in young and old.
Mol Cancer
; 9: 146, 2010 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20540791
9.
Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy.
Clin Dev Immunol
; 2010: 586342, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-21197407
10.
Left ventricular global transcriptional profiling in human end-stage dilated cardiomyopathy.
Genomics
; 94(1): 20-31, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19332114
11.
Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.
OMICS
; 24(3): 160-171, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32105570
12.
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient.
Mol Cytogenet
; 12: 21, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131027
13.
A novel interstitial microdeletion of 7q22.1-7q22.3 detected by array comparative genomic hybridization.
Am J Med Genet A
; 155A(12): 3128-31, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22002944
14.
Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.
Gene
; 513(2): 297-300, 2013 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23063737
15.
Genome-wide expression profiling of patients with primary open angle glaucoma.
Invest Ophthalmol Vis Sci
; 53(9): 5899-904, 2012 Aug 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-22871836
16.
p16( INK4a) positively regulates cyclin D1 and E2F1 through negative control of AUF1.
PLoS One
; 6(7): e21111, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21799732