Detalhe da pesquisa
1.
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Am J Hum Genet
; 110(8): 1414-1435, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541189
2.
Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.
Hum Mol Genet
; 32(19): 2857-2871, 2023 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369021
3.
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
Hum Mol Genet
; 32(3): 386-401, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35981081
4.
Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.
Clin Genet
; 105(5): 523-532, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38247296
5.
Assessing the feasibility of using the ketogenic diet in autism spectrum disorder.
J Hum Nutr Diet
; 36(4): 1303-1315, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36478324
6.
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Hum Genet
; 141(2): 257-272, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34907471
7.
Diagnostic preferences include discussion of etiology for adults with cerebral palsy and their caregivers.
Dev Med Child Neurol
; 64(6): 723-733, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35092695
8.
A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.
BMC Neurol
; 21(1): 358, 2021 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34530748
9.
Genetic testing in individuals with cerebral palsy.
Dev Med Child Neurol
; 63(12): 1448-1455, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114234
10.
Inclusion and perception of hand therapy content in occupational therapy programs: A mixed-method study.
J Hand Ther
; 33(1): 112-118, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-30679089
11.
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
Am J Hum Genet
; 99(3): 728-734, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545675
12.
Hirsutism in Women.
Am Fam Physician
; 100(3): 168-175, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31361105
13.
Prevalence of Seizures in Pediatric Extracorporeal Membrane Oxygenation Patients as Measured by Continuous Electroencephalography.
Pediatr Crit Care Med
; 19(12): 1162-1167, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30247227
14.
A disease-causing variant in HNRNPH2 inherited from an unaffected mother with skewed X-inactivation.
Am J Med Genet A
; 188(2): 668-671, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34719854
15.
Self-assembled MmsF proteinosomes control magnetite nanoparticle formation in vitro.
Proc Natl Acad Sci U S A
; 111(45): 16094-9, 2014 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-25349410
16.
Bioinspired nanoreactors for the biomineralisation of metallic-based nanoparticles for nanomedicine.
Phys Chem Chem Phys
; 17(24): 15508-21, 2015 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25865599
17.
Oral health education and therapy reduces gingivitis during pregnancy.
J Clin Periodontol
; 41(2): 141-8, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24164645
18.
Evolving capacity and decision-making in practice: adolescents' access to legal abortion services in Mexico City.
Reprod Health Matters
; 21(41): 167-75, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23684199
19.
Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.
Genes (Basel)
; 14(6)2023 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37372334
20.
3' UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay.
Genes (Basel)
; 14(9)2023 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761828