Detalhe da pesquisa
1.
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Am J Hum Genet
; 103(2): 305-316, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057029
2.
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Genet Med
; 23(6): 1028-1040, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33658631
3.
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Genet Med
; 23(3): 543-554, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33149277
4.
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
Mol Med
; 25(1): 6, 2019 02 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-30813884
5.
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Genet Med
; 21(9): 2043-2058, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842647
6.
The clinical significance of small copy number variants in neurodevelopmental disorders.
J Med Genet
; 51(10): 677-88, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25106414
7.
High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power.
Prenat Diagn
; 34(6): 525-33, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24919595
8.
Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.
Am J Med Genet A
; 161A(8): 1853-9, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23794250
9.
Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in.
Stem Cell Res
; 56: 102520, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34479069
10.
Correlation of telomere length shortening with promoter methylation profile of p16/Rb and p53/p21 pathways in breast cancer.
Mod Pathol
; 23(5): 763-72, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20081803
11.
Epigenetics of ovarian cancer: from the lab to the clinic.
Gynecol Oncol
; 118(1): 81-7, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20421130
12.
Applying Rogers' framework to evaluate public awareness and knowledge of medical genetics in a developing country.
J Community Genet
; 11(3): 367-375, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112302
13.
Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene).
Mol Genet Genomic Med
; 8(10): e1409, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32748564
14.
Levels of plasma circulating cell free nuclear and mitochondrial DNA as potential biomarkers for breast tumors.
Mol Cancer
; 8: 105, 2009 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-19922604
15.
Effect of the rural rescue system on reducing the mortality rate of landmine victims: a prospective study in Ilam Province, Iran.
Prehosp Disaster Med
; 24(2): 126-9, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19591306
16.
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Eur J Hum Genet
; 27(3): 408-421, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30552426
17.
Avicenna's view on medical genetics.
Genet Med
; 15(5): 410-1, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23649382
18.
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.
Sci Rep
; 8(1): 17201, 2018 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30464253
19.
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Eur J Hum Genet
; 26(2): 197-209, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29321670
20.
Treatment management in disaster: a review of the Bam earthquake experience.
Prehosp Disaster Med
; 22(6): 517-21, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-18709940