Detalhe da pesquisa
1.
Large Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations.
Cytogenet Genome Res
; 163(1-2): 14-23, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37497920
2.
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Mol Genet Metab
; 132(1): 27-37, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33129689
3.
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Am J Hum Genet
; 101(3): 466-477, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28886345
4.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Hum Mutat
; 37(7): 653-60, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26931382
5.
A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.
Clin Chem
; 62(1): 208-17, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26430078
6.
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Eur J Hum Genet
; 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38678163
7.
Trial protocol: Feasibility of neuromodulation with connectivity-guided intermittent theta-burst stimulation for improving cognition in multiple sclerosis.
Open Med (Wars)
; 18(1): 20230814, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37786777
8.
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
Clin Epigenetics
; 11(1): 64, 2019 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31029150
9.
ATR-p53 restricts homologous recombination in response to replicative stress but does not limit DNA interstrand crosslink repair in lung cancer cells.
PLoS One
; 6(8): e23053, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21857991
10.
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.
Am J Med Genet A
; 140(13): 1375-83, 2006 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16761290
11.
Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.
Pediatrics
; 118(6): e1687-95, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17088400
12.
AGTR2 mutations in X-linked mental retardation.
Science
; 296(5577): 2401-3, 2002 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-12089445