Detalhe da pesquisa
1.
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.
Clin Genet
; 103(4): 484-491, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36576126
2.
A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.
Am J Med Genet A
; 161A(6): 1453-8, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23633430
3.
A phenotype map for 14q32.3 terminal deletions.
Am J Med Genet A
; 158A(4): 695-706, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22367666
4.
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Sci Rep
; 9(1): 14476, 2019 10 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31597922
5.
Unbalanced cryptic translocation der(14)t(9;14)(q34.3;q32.33) identified by subtelomeric FISH.
Clin Dysmorphol
; 12(4): 261-5, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14564215
6.
Molecular definition of chromosome arm 5q deletion end points and detection of hidden aberrations in patients with myelodysplastic syndromes and isolated del(5q) using oligonucleotide array CGH.
Genes Chromosomes Cancer
; 46(12): 1119-28, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17823930
7.
Refined mapping of allele loss at chromosome 10q23-26 in prostate cancer.
Prostate
; 50(3): 135-44, 2002 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-11813205
8.
Fusion of H4/D10S170 to PDGFRbeta in a patient with chronic myelomonocytic leukemia and long-term responsiveness to imatinib.
Ann Hematol
; 86(5): 353-4, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17211520
9.
A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy.
Nephrol Dial Transplant
; 21(2): 518-21, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16303781