Detalhe da pesquisa
1.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Hum Genet
; 142(6): 785-808, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37079061
2.
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Eur J Pediatr
; 181(1): 171-187, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34232366
3.
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Biomedicines
; 12(5)2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38791074
4.
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.
Pediatr Rep
; 14(1): 131-139, 2022 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35324822
5.
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.
Am J Hematol
; 86(9): 727-32, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21850656
6.
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants.
J Bone Miner Res
; 36(3): 531-545, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33125761
7.
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency.
J Nephrol
; 25(4): 582-5, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22307442