Detalhe da pesquisa
1.
The relationship between performance on the medical genetics and genomics in-training and certifying examinations.
Genet Med
; 24(1): 225-231, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906492
2.
Training the next generation of genomic medicine providers: trends in medical education and national assessment.
Genet Med
; 22(10): 1718-1722, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32555416
3.
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Genet Med
; 21(1): 195-206, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29915382
4.
Professional medical education and genomics.
Annu Rev Genomics Hum Genet
; 15: 507-16, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24635717
5.
Recommendations for the integration of genomics into clinical practice.
Genet Med
; 18(11): 1075-1084, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27171546
6.
A population-based study of autosomal-recessive disease-causing mutations in a founder population.
Am J Hum Genet
; 91(4): 608-20, 2012 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-22981120
7.
Disclosure of genetic research results to members of a founder population.
J Genet Couns
; 23(6): 984-91, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24777552
8.
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Am J Hum Genet
; 86(5): 749-64, 2010 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20466091
9.
RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosis.
J Craniofac Surg
; 24(1): 126-9, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23348268
10.
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
Hum Mutat
; 30(11): 1535-42, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19701948
11.
Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance.
Am J Med Genet A
; 146A(3): 354-60, 2008 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18203180
12.
The natural history of phytosterolemia: Observations on its homeostasis.
Atherosclerosis
; 269: 122-128, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29353227
13.
Parents: critical stakeholders in expanding newborn screening.
J Pediatr
; 161(3): 385-9, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22727864
14.
BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE.
Retin Cases Brief Rep
; 10(3): 211-3, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26510000
15.
A Review of Fanconi Anemia for the Practicing Pediatrician.
Pediatr Ann
; 44(10): 444-5, 448, 450 passim, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26473424
16.
Internet resources in medical genetics.
Curr Protoc Hum Genet
; 80: 9.12.1-9.12.8, 2014 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-24510683
17.
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Eur J Hum Genet
; 22(1): 57-63, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23632792
18.
Expanding newborn screening for lysosomal disorders: opportunities and challenges.
Dev Disabil Res Rev
; 17(1): 9-14, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22447749
19.
Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype.
Eur J Med Genet
; 54(2): 161-4, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21078420
20.
Internet resources in medical genetics.
Curr Protoc Hum Genet
; Chapter 9: Unit 9.12, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19582767