Detalhe da pesquisa
1.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
; 110(5): 790-808, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37071997
2.
A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.
J Hum Genet
; 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459225
3.
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Hum Mol Genet
; 30(19): 1785-1796, 2021 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059922
4.
A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
Genet Med
; 25(9): 100894, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183800
5.
The clinical impact of the first-trimester nuchal translucency between the 95th-99th percentiles.
Prenat Diagn
; 43(7): 929-936, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37264704
6.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Am J Med Genet A
; 188(9): 2652-2665, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670379
7.
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Am J Med Genet A
; 188(1): 272-282, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515416
8.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Am J Med Genet A
; 188(12): 3492-3504, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36135330
9.
Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia.
J Cell Physiol
; 236(8): 5664-5675, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33432587
10.
Could the MED13 mutations manifest as a Kabuki-like syndrome?
Am J Med Genet A
; 185(2): 584-590, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33258286
11.
First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population?
Prenat Diagn
; 40(12): 1563-1568, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32799336
12.
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.
Hum Mutat
; 40(12): 2286-2295, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31397523
13.
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4.
J Hum Genet
; 64(11): 1075-1081, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31506564
14.
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.
Calcif Tissue Int
; 105(2): 215-221, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31129707
15.
Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes.
Inflamm Res
; 68(11): 901-904, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31468084
16.
The Challenge of Next Generation Sequencing in a Boy With Severe Mononucleosis and EBV-related Lymphoma.
J Pediatr Hematol Oncol
; 40(5): e323-e326, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29176466
17.
Infant with a big head and 'crossed' polysyndactyly.
J Paediatr Child Health
; 59(5): 770-771, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35716028
18.
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Haematologica
; 107(3): 750-754, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788986
19.
Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature.
Am J Med Genet A
; 173(7): 1970-1974, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28411391
20.
A child without kneecaps.
J Paediatr Child Health
; 58(3): 550, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35244310