Detalhe da pesquisa
1.
Genomic imbalances in craniofacial microsomia.
Am J Med Genet C Semin Med Genet
; 184(4): 970-985, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33215817
2.
A Rare Case of Concomitant Deletions in 15q11.2 and 19p13.3.
Cytogenet Genome Res
; 156(2): 80-86, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30296781
3.
Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities.
Cleft Palate Craniofac J
; 52(4): 411-6, 2015 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24805874
4.
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.
Eur J Pediatr
; 172(7): 927-45, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23440478
5.
Improved detection of Helicobacter pylori DNA in formalin-fixed paraffin-embedded (FFPE) tissue of patients with hepatocellular carcinoma using laser capture microdissection (LCM).
Helicobacter
; 18(3): 244-5, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23350684
6.
Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases.
Mol Syndromol
; 8(5): 244-252, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28878608
7.
Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.
Mol Syndromol
; 8(4): 187-194, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28690484
8.
22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening.
J Pediatr Genet
; 4(1): 17-22, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27617111