Detalhe da pesquisa
1.
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Am J Hum Genet
; 109(5): 944-952, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358416
2.
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
J Med Genet
; 59(7): 669-677, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321324
3.
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Kidney Int
; 101(5): 1039-1053, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35227688
4.
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Am J Med Genet A
; 185(8): 2417-2433, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34042254
5.
Biotinylation: a novel posttranslational modification linking cell autonomous circadian clocks with metabolism.
Am J Physiol Heart Circ Physiol
; 310(11): H1520-32, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27084392
6.
Partial trisomy 21: a fifty-year follow-up visit.
Am J Med Genet A
; 167(7): 1610-3, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25944586
7.
Incidental detection of cancer predisposition gene copy number variations by array comparative genomic hybridization.
J Pediatr
; 165(5): 1057-9.e1-4, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25201531
8.
Programme directors' opinions on medical genetics education in pediatric residency programmes.
Curr Opin Pediatr
; 29(6): 619-621, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28937507
9.
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
Int J Neonatal Screen
; 6(1): 10, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33073008
10.
Newborn craniofacial malformations: orofacial clefting and craniosynostosis.
Clin Perinatol
; 42(2): 321-36, viii, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26042907