Detalhe da pesquisa
1.
The link between hidradenitis suppurativa and phylloid hypomelanosis in partial trisomy-13 mosaicism: New evidences and further genetic/pathogenetic insights.
Pediatr Dermatol
; 38(3): 637-639, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715178
2.
The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders.
Am J Med Genet B Neuropsychiatr Genet
; 177(6): 557-562, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30105822
3.
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.
Am J Med Genet A
; 170A(1): 162-9, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333654
4.
Genetic counseling for women referred for advanced maternal age: a telegenetic approach.
Genet Med
; 16(10): 795, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25290261
5.
Cytogenetic and array CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q-phenotype.
Am J Med Genet A
; 146A(1): 110-5, 2008 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18074369
6.
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature.
Mol Syndromol
; 9(4): 175-181, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30140195
7.
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay.
Mol Syndromol
; 9(1): 30-37, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29456481
8.
Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis.
Prenat Diagn
; 26(6): 571-6, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16683276