Detalhe da pesquisa
1.
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Clin Genet
; 101(5-6): 494-506, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170016
2.
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.
Hum Mutat
; 41(1): 222-239, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31502745
3.
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.
Clin Genet
; 96(4): 309-316, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31237352
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.
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
J Med Genet
; 53(2): 98-110, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26502894
6.
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
Mol Genet Metab
; 116(3): 215-20, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26432670
7.
Association between Kniest dysplasia and chondrosarcoma in a child.
Am J Med Genet A
; 167A(12): 3204-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26345137
8.
Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.
Am J Med Genet A
; 167A(5): 1008-17, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728055
9.
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Am J Med Genet A
; 167A(3): 461-75, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604898
10.
The clinical significance of small copy number variants in neurodevelopmental disorders.
J Med Genet
; 51(10): 677-88, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25106414
11.
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Eur J Hum Genet
; 32(2): 190-199, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872275
12.
Phenotypic variability of prenatally presenting Gaucher's disease.
Prenat Diagn
; 33(10): 1004-6, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23749476
13.
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.
Eur J Hum Genet
; 26(1): 107-116, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29203834
14.
Radiographic features of osteogenesis imperfecta.
Insights Imaging
; 4(4): 417-29, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23686748
15.
Oral manifestations of patients with Kenny-Caffey Syndrome.
Eur J Med Genet
; 55(8-9): 441-5, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22522175
16.
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
J Hum Genet
; 53(9): 834-841, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18651097