Detalhe da pesquisa
1.
Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet
; 31(24): 4131-4142, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861666
2.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
J Med Genet
; 60(9): 885-893, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36788019
3.
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.
Hum Mutat
; 43(12): 2222-2233, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36259739
4.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat
; 43(7): 832-858, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332618
5.
Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene.
Int J Mol Sci
; 23(21)2022 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36361881
6.
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Clin Genet
; 100(3): 268-279, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33988253
7.
A clinical scoring system for congenital contractural arachnodactyly.
Genet Med
; 22(1): 124-131, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31316167
8.
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.
J Hum Genet
; 65(10): 855-864, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32467589
9.
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Hum Mutat
; 40(9): 1346-1363, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31209962
10.
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Hum Mutat
; 41(6): 1183, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32400065
11.
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Hum Genet
; 134(1): 123-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25407461
12.
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.
Birth Defects Res A Clin Mol Teratol
; 103(12): 1003-10, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26033879
13.
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.
Am J Med Genet A
; 164A(8): 2084-90, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24819041
14.
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Brain
; 136(Pt 12): 3634-44, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24176978
15.
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Eur J Hum Genet
; 31(2): 202-215, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36434256
16.
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.
Disabil Rehabil
; 44(18): 4966-4973, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010585
17.
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Hum Mutat
; 32(7): 760-72, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21387466
18.
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
Am J Med Genet A
; 155A(11): 2860-4, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21964829
19.
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.
Mol Genet Genomic Med
; 8(6): e1203, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196989
20.
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Hum Mutat
; 30(4): 695-702, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19206169