Detalhe da pesquisa
1.
Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype.
Gynecol Endocrinol
; 37(4): 377-381, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33356667
2.
Bone Marrow Failure in Fanconi Anemia: Clinical and Genetic Spectrum in a Cohort of 20 Pediatric Patients.
J Pediatr Hematol Oncol
; 41(8): 612-617, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31259830
3.
Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly.
Pediatr Res
; 82(2): 253-260, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28422950
4.
An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.
Mol Cytogenet
; 8: 64, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26269715
5.
Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.
Mol Cytogenet
; 8: 73, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26430469
6.
Investigation of FANCA mutations in Greek patients.
Anticancer Res
; 33(8): 3369-74, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23898106