Detalhe da pesquisa
1.
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.
Hum Mutat
; 43(3): 347-361, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35005812
2.
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.
Am J Hum Genet
; 104(6): 1040-1059, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079900
3.
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
J Med Genet
; 57(5): 301-307, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287593
4.
Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations.
Hum Reprod
; 35(4): 939-949, 2020 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32242900
5.
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
J Med Genet
; 54(7): 479-488, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28119487
6.
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
Hum Mutat
; 35(4): 478-85, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24470203
7.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
J Med Genet
; 49(12): 737-46, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23188108
8.
TRIT1 deficiency: Two novel patients with four novel variants.
Eur J Med Genet
; 65(11): 104603, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36049610
9.
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Eur J Hum Genet
; 28(6): 770-782, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32005960
10.
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.
Eur J Hum Genet
; 25(8): 1011-1014, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28589944
11.
The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.
Am J Med Genet A
; 143A(12): 1268-81, 2007 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17506106
12.
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome.
Hum Genet
; 121(5): 645, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17879432