Detalhe da pesquisa
1.
NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L).
Mol Biol Rep
; 50(11): 9715-9720, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37812352
2.
Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment.
Genes (Basel)
; 14(10)2023 10 18.
Artigo
Inglês
| MEDLINE | ID: mdl-37895307
3.
Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature.
Am J Med Genet A
; 152A(9): 2221-9, 2010 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-20683990
4.
Jacobsen syndrome.
Orphanet J Rare Dis
; 4: 9, 2009 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-19267933