Detalhe da pesquisa
1.
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Hum Mol Genet
; 27(20): 3475-3487, 2018 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29931299
2.
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.
J Med Genet
; 55(6): 422-429, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29459493
3.
Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Hum Mutat
; 39(3): 319-332, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29243349
4.
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
J Med Genet
; 54(6): 371-380, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28289185
5.
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Genet Med
; 18(1): 49-56, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25790162
6.
Kinetochore KMN network gene CASC5 mutated in primary microcephaly.
Hum Mol Genet
; 21(24): 5306-17, 2012 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22983954
7.
A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation.
Indian J Hum Genet
; 18(3): 352-5, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23716947
8.
Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors.
Cancer Genet Cytogenet
; 182(1): 40-2, 2008 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18328949
9.
Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses.
Prenat Diagn
; 33(2): 201-3, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23299724
10.
Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis.
J Trop Pediatr
; 54(5): 350-2, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18499737
11.
Hemiplegic Migraine Presenting with Prolonged Somnolence: A Case Report.
Case Rep Neurol
; 8(3): 204-210, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27790126
12.
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.
Hum Mutat
; 26(3): 282, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16088922
13.
Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation.
J Trop Pediatr
; 53(6): 434-7, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17616540