Detalhe da pesquisa
1.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet;
103(2): 245-260, 2018 08 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30057031
2.
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Epilepsia;
62(7): e103-e109, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34041744
3.
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
Am J Hum Genet;
99(3): 720-727, 2016 09 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27545676
4.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet;
103(3): 456, 2018 09 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30193138
5.
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor ß Signaling.
Biol Psychiatry;
87(2): 100-112, 2020 01 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31443933
6.
Confusion and strength.
J Genet Couns;
21(2): 199-200, 2012 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22130525
7.
Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3.
Clin Case Rep;
5(8): 1277-1283, 2017 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28781842
8.
Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.
Mol Cytogenet;
10: 24, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28649281
9.
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Genome Med;
9(1): 73, 2017 08 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28807008
10.
Hyponatremic dehydration as a presentation of cystic fibrosis.
Pediatr Emerg Care;
22(11): 725-7, 2006 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17110865
11.
Aplastic anemia and cytotoxic T lymphocyte antigen-4 haploinsufficiency treated with bone marrow transplantation.
J Allergy Clin Immunol Pract;
5(5): 1445-1447.e2, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28499781