Detalhe da pesquisa
1.
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.
Genet Med
; 26(3): 101051, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38131308
2.
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2.
J Med Genet
; 60(6): 597-607, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36328423
3.
An Introductory Guide to Artificial Intelligence in Interventional Radiology: Part 1 Foundational Knowledge.
Can Assoc Radiol J
; : 8465371241236376, 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38445497
4.
An Introductory Guide to Artificial Intelligence in Interventional Radiology: Part 2: Implementation Considerations and Harms.
Can Assoc Radiol J
; : 8465371241236377, 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38445517
5.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Am J Med Genet A
; 188(9): 2652-2665, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670379
6.
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.
Hum Mol Genet
; 28(20): 3391-3405, 2019 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31363758
7.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 102(6): 1195-1203, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861108
8.
Endovascular community response to mortality data in use of paclitaxel devices for peripheral vascular disease.
J Vasc Surg
; 74(6): 2006-2013.e2, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34182026
9.
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Am J Med Genet A
; 185(1): 15-25, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33029936
10.
The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management.
Curr Rheumatol Rep
; 23(11): 81, 2021 11 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34825999
11.
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Am J Hum Genet
; 101(5): 664-685, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100083
12.
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genet Med
; 22(11): 1920, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32814847
13.
A clinical scoring system for congenital contractural arachnodactyly.
Genet Med
; 22(1): 124-131, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31316167
14.
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.
Clin Genet
; 98(6): 571-576, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33009664
15.
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
Am J Med Genet C Semin Med Genet
; 181(4): 638-643, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31714006
16.
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Am J Med Genet C Semin Med Genet
; 181(4): 502-508, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31479583
17.
A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.
Hum Mol Genet
; 26(20): 3869-3882, 2017 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29016847
18.
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Genet Med
; 21(7): 1576-1584, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30531895
19.
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genet Med
; 21(4): 850-860, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245513
20.
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Clin Genet
; 95(6): 693-703, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30859559