Detalhe da pesquisa
1.
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Genet Med
; 19(9): 1040-1048, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28252636
2.
Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.
Am J Med Genet A
; 170(3): 583-93, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26601658
3.
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
J Med Genet
; 52(11): 754-61, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26264232
4.
Fabry disease in infancy and early childhood: a systematic literature review.
Genet Med
; 17(5): 323-30, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25232851
5.
Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.
Am J Med Genet A
; 161A(4): 711-6, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23494996
6.
Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
J Med Genet
; 48(12): 840-50, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21984752
7.
Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations.
Front Pediatr
; 10: 944178, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36245745
8.
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.
Eur J Hum Genet
; 30(1): 111-116, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34707297
9.
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Sci Adv
; 6(49)2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33268356
10.
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
Eur J Hum Genet
; 27(7): 1081-1089, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30778173
11.
NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.
Am J Med Genet A
; 161A(2): 377-81, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23300014
12.
Lysosomal storage diseases.
RN
; 71(7): 33-7; quiz 38, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18720909
13.
Phenotypic characteristics of early Wolfram syndrome.
Orphanet J Rare Dis
; 8: 64, 2013 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-23981289
14.
A novel missense mutation in the MEN1 gene in a patient with multiple endocrine neoplasia type 1.
Endocr Pract
; 17(3): e63-7, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21454242
15.
Diffusion-weighted and dynamic contrast-enhanced imaging as markers of clinical behavior in children with optic pathway glioma.
Pediatr Radiol
; 38(12): 1293-9, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18846370