Detalhe da pesquisa
1.
Longitudinal assessments in continuing specialty certification and lifelong learning.
Med Teach
; 40(9): 917-919, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29793376
2.
Maintenance of certification 2.0--strong start, continued evolution.
N Engl J Med
; 372(2): 104-6, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25564894
3.
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
Am J Med Genet C Semin Med Genet
; 160C(4): 250-62, 2012 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23059950
4.
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
Am J Hum Genet
; 84(3): 307-15, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19232556
5.
Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1.
Pediatr Blood Cancer
; 54(7): 890-6, 2010 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20310005
6.
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
Am J Med Genet B Neuropsychiatr Genet
; 153B(4): 937-47, 2010 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20468056
7.
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.
J Med Genet
; 44(9): 594-602, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17526801
8.
The biology and management of laryngeal neurofibroma.
Arch Otolaryngol Head Neck Surg
; 130(12): 1400-6, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15611399
9.
Moyamoya syndrome associated with neurofibromatosis Type 1: perioperative and long-term outcome after surgical revascularization.
J Neurosurg Pediatr
; 11(4): 417-25, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23373626
10.
Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1.
J Neurosurg Pediatr
; 11(4): 410-6, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23414129
11.
Pilot study of a novel computerized task to assess spatial learning in children and adolescents with neurofibromatosis type 1.
J Child Neurol
; 25(10): 1195-202, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20139412
12.
Diagnostic utility of array-based comparative genomic hybridization in a clinical setting.
Am J Med Genet A
; 143A(21): 2523-33, 2007 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17910064
13.
Brainstem lesions in neurofibromatosis type 1.
Neurosurgery
; 61(4): 762-6; discussion 766-7, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17986937
14.
Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.
Prenat Diagn
; 26(9): 842-9, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16832833
15.
Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
Birth Defects Res A Clin Mol Teratol
; 73(8): 569-71, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15965973
16.
Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement.
Am J Med Genet A
; 132A(2): 226-30, 2005 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15580636
17.
Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.
Am J Med Genet A
; 140A(17): 1876-9, 2006 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16892302
18.
Cholesterol in childhood: friend or foe?: Commentary on the article by Merkens et al. on page 726.
Pediatr Res
; 56(5): 679-81, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15496612
19.
Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay.
Am J Med Genet A
; 130A(2): 204-7, 2004 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15372522