Detalhe da pesquisa
1.
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Prenat Diagn
; 43(6): 734-745, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36914926
2.
Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy-like lymphedema: First prenatal case report.
Am J Med Genet A
; 188(12): 3550-3554, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36129367
3.
Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.
Neurogenetics
; 22(3): 195-206, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34132911
4.
Intragenic Deletion of the ZMYND11 Gene in 10p15.3 is Associated with Developmental Delay Phenotype: A Case Report.
Cytogenet Genome Res
; 161(8-9): 445-448, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34818214
5.
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
BMC Med Genet
; 21(1): 18, 2020 01 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32000717
6.
Clinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease.
Rev Esp Enferm Dig
; 111(10): 775-788, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31538484
7.
Expanding the mutational spectrum of the ABCB4 gene in inherited adult cholestatic liver disorders with four novel pathogenic variants.
Rev Esp Enferm Dig
; 111(1): 76-79, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30449124
8.
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.
Am J Med Genet A
; 173(6): 1690-1693, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28398607
9.
Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature.
Mol Genet Metab Rep
; 34: 100959, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36817643
10.
AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature.
Genes (Basel)
; 13(11)2022 11 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36421840
11.
In vitro culture of Keratinocytes from human umbilical cord blood mesenchymal stem cells: the Saigonese culture.
Cell Tissue Bank
; 12(2): 125-33, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20349146
12.
Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome.
Eur J Med Genet
; 64(1): 104118, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33248287
13.
A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome.
Eur J Hum Genet
; 26(10): 1497-1501, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29899371
14.
15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.
Eur J Med Genet
; 61(8): 459-464, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29549028
15.
First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.
Eur J Med Genet
; 61(6): 322-328, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29366875
16.
RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability.
Am J Med Genet A
; 158A(7): 1782-4, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22644616