Detalhe da pesquisa
1.
A novel non-invasive prenatal sickle cell disease test for all at-risk pregnancies.
Br J Haematol
; 190(1): 119-124, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32097993
2.
Autopsy findings in EPG5-related Vici syndrome with antenatal onset.
Am J Med Genet A
; 173(9): 2522-2527, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28748650
3.
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
Am J Hum Genet
; 92(3): 354-65, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23453667
4.
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
Am J Hum Genet
; 93(3): 471-81, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23993193
5.
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Am J Hum Genet
; 93(1): 29-41, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23768512
6.
The relationship between spoken language and speech and nonspeech processing in children with autism: a magnetic event-related field study.
Dev Sci
; 19(5): 834-52, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27146167
7.
Evidence of digenic inheritance in Alport syndrome.
J Med Genet
; 52(3): 163-74, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25575550
8.
Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.
J Pediatr
; 204: 305-313.e14, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30579468
9.
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Brain
; 136(Pt 1): 269-81, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23288328
10.
The efficacy of mindfulness-based therapy for anxiety, social skills, and aggressive behaviors in children and young people with Autism Spectrum Disorder: A systematic review.
Front Psychiatry
; 14: 1079471, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993931
11.
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.
BMC Med Genomics
; 14(1): 148, 2021 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34092239
12.
A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report.
BMC Med Genomics
; 14(1): 58, 2021 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33637067
13.
Impaired P1 Habituation and Mismatch Negativity in Children with Autism Spectrum Disorder.
J Autism Dev Disord
; 50(2): 603-616, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31728809
14.
Toward an Individualized Neural Assessment of Receptive Language in Children.
J Speech Lang Hear Res
; 63(7): 2361-2385, 2020 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32640176
15.
Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia.
Front Physiol
; 10: 623, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31231230
16.
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.
BMC Genomics
; 9: 572, 2008 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-19040728
17.
Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.
Eur J Hum Genet
; 16(1): 53-61, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17726484
18.
Modeling and simulation for toxicity assessment.
Math Biosci Eng
; 14(3): 581-606, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28092954
19.
Low prevalence of BRCA1 exon rearrangements in familial and young sporadic breast cancer patients.
Fam Cancer
; 5(4): 323-6, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16724249
20.
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
Clin Dysmorphol
; 25(4): 135-45, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27465822