Detalhe da pesquisa
1.
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Genet Med
; 25(1): 63-75, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399132
2.
Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis.
Am J Med Genet A
; 188(9): 2584-2589, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35779212
3.
Anteroposterior axis patterning by early canonical Wnt signaling during hemichordate development.
PLoS Biol
; 16(1): e2003698, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29337984
4.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
; 143(11): 3242-3261, 2020 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33150406
5.
Inhibiting NF-κB-inducing kinase (NIK): discovery, structure-based design, synthesis, structure-activity relationship, and co-crystal structures.
Bioorg Med Chem Lett
; 23(5): 1238-44, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23374866
6.
Synthesis and optimization of substituted furo[2,3-d]-pyrimidin-4-amines and 7H-pyrrolo[2,3-d]pyrimidin-4-amines as ACK1 inhibitors.
Bioorg Med Chem Lett
; 22(19): 6212-7, 2012 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22929232
7.
Genetic counseling for prenatal testing: where is the discussion about disability?
J Genet Couns
; 21(6): 814-24, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22898882
8.
Stress and Coping in Caregivers of Children with RASopathies: Assessment of the Impact of Caregiver Conferences.
J Pediatr Genet
; 9(4): 235-242, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32765926
9.
Identification and optimization of N3,N6-diaryl-1H-pyrazolo[3,4-d]pyrimidine-3,6-diamines as a novel class of ACK1 inhibitors.
Bioorg Med Chem Lett
; 18(24): 6352-6, 2008 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18993068
10.
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
Neuron
; 100(6): 1354-1368.e5, 2018 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30449657
11.
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.
Cold Spring Harb Mol Case Stud
; 3(1): a001388, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28050602
12.
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
13.
A case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata.
Clin Dysmorphol
; 27(4): 151-153, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29912012
14.
An ultrasensitive high-throughput electrochemiluminescence immunoassay for the Cdc42-associated protein tyrosine kinase ACK1.
Anal Biochem
; 367(2): 179-89, 2007 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17592719
15.
Secretion of MUC5AC mucin from pancreatic cancer cells in response to forskolin and VIP.
Biochem Biophys Res Commun
; 294(3): 680-6, 2002 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-12056823