Detalhe da pesquisa
1.
Periconceptional folic acid supplementation in Southern Brazil: Why are not we doing it right?
Am J Med Genet A
; 179(1): 20-28, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30569628
2.
Auditory evoked potentials in children and adolescents with Down syndrome.
Am J Med Genet A
; 176(1): 68-74, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29210512
3.
Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings.
Am J Med Genet A
; 173(5): 1152-1158, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371255
4.
Frequency and clinical significance of chromosome 7 and 10 aneuploidies, amplification of the EGFR gene, deletion of PTEN and TP53 genes, and 1p/19q deficiency in a sample of adult patients diagnosed with glioblastoma from Southern Brazil.
J Neurooncol
; 135(3): 465-472, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28856550
5.
Dental anomalies in 14 patients with IP: clinical and radiological analysis and review.
Clin Oral Investig
; 21(5): 1845-1852, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27766487
6.
Gastroschisis in a fetus with a congenital neuroblastoma: Association or coincidence?
Birth Defects Res A Clin Mol Teratol
; 106(3): 208-12, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26875914
7.
Nasoethmoidal meningocele in a child presenting bilateral congenital cystic adenomatoid malformation: Evidence for a new entity or consequence of gestational exposures?
Birth Defects Res A Clin Mol Teratol
; 106(4): 225-31, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26932830
8.
Importance of a multidisciplinary approach and monitoring in fetal warfarin syndrome.
Am J Med Genet A
; 167(6): 1294-9, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25899236
9.
Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: novel evidence for a new condition?
Am J Med Genet A
; 164A(5): 1085-91, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24648351
10.
Limb-body wall defect: experience of a reference service of fetal medicine from Southern Brazil.
Birth Defects Res A Clin Mol Teratol
; 100(10): 739-49, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24975578
11.
Laryngotracheomalacia in a Patient with Mosaic Trisomy 8.
J Pediatr Genet
; 13(1): 57-61, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38567174
12.
Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil.
Am J Med Genet A
; 161A(6): 1278-83, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23613355
13.
Cytogenetic response to imatinib treatment in Southern Brazilian patients with chronic myelogenous leukemia and variant Philadelphia chromosome.
Ann Hematol
; 92(2): 185-9, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23064942
14.
Trisomy 18 and eye anomalies.
Am J Med Genet A
; 173(2): 553-555, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27792864
15.
Trisomy 18 and holoprosencephaly.
Am J Med Genet A
; 173(7): 1985-1987, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28449414
16.
Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes.
Exp Dermatol
; 20(5): 408-12, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21410767
17.
Trisomy 18: experience of a reference hospital from the south of Brazil.
Am J Med Genet A
; 155A(7): 1529-35, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21671399
18.
Trisomy 13 and gallbladder agenesis.
Am J Med Genet A
; 170(7): 1945-6, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27155439
19.
GATA 4 Deletions Associated with Congenital Heart Diseases in South Brazil.
J Pediatr Genet
; 10(2): 92-97, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33996178
20.
Macrothrombocytopenia as diagnosis predictor of 22q11 deletion syndrome among patients with congenital heart defects.
Am J Med Genet A
; 167(6): 1406-8, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25899105