Detalhe da pesquisa
1.
A novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester.
Prenat Diagn
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38777622
2.
Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome.
Prenat Diagn
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38840299
3.
Fetal Phenotype of CHARGE Syndrome with a Molecular Confirmation: A Series of 13 Cases.
Fetal Diagn Ther
; : 1-7, 2024 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38631314
4.
Early Onset of Severe Anemia Caused by Hb Calgary (HBB: C.194G > T): Another Case Report.
Hemoglobin
; 48(2): 118-120, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38344813
5.
A 6-Year Follow-up of a Chinese Child with Homozygous ß0-Thalaasemia and a Heterozygous KLF1 Mutation.
Hemoglobin
; 48(1): 60-62, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38314576
6.
Prenatal Diagnosis of Oral Teratoma by Ultrasound.
J Med Ultrasound
; 32(1): 76-78, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38665348
7.
High accuracy of single-molecule real-time sequencing in detecting a rare α-globin fusion gene in carrier screening population.
Ann Hum Genet
; 87(1-2): 9-17, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317495
8.
Application of real-time PCR-based multicolor melting curve with automatic analysis system in pregestational and prenatal thalassemia diagnoses.
Ann Hum Genet
; 87(6): 316-325, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37771257
9.
Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities.
Prenat Diagn
; 43(13): 1662-1665, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37936555
10.
Fetal Hemoglobin H Hydrops Fetalis: Another Three Case Reports.
Hemoglobin
; 47(2): 102-104, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37247248
11.
ß-Thalassemia Trait Caused by SUPT5H Defects: Another Case Report.
Hemoglobin
; 47(4): 145-146, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37807711
12.
Fetal Rhabdomyoma Leads to Family Diagnosis of Tuberous Sclerosis Complex.
J Med Ultrasound
; 31(3): 245-247, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38025010
13.
Megacystis in the First Trimester as an Unreported Sonographic Finding of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Confirmed by Whole-exome Sequencing.
J Med Ultrasound
; 31(3): 242-244, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38025018
14.
Adducted Thumb in the First Trimester of Pregnancy: An Early Clue to Prenatal Diagnosis of L1 Syndrome.
J Med Ultrasound
; 31(4): 331-333, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38264596
15.
Accurate Identification of Breakpoints in a Cryptic Reciprocal Translocation by Whole-Genome Sequencing.
Cytogenet Genome Res
; 162(7): 386-390, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36893740
16.
CFTR Suppresses Neointimal Formation Through Attenuating Proliferation and Migration of Aortic Smooth Muscle Cells.
J Cardiovasc Pharmacol
; 79(6): 914-924, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266910
17.
Prenatal diagnosis of Coffin-Siris syndrome: What are the fetal features?
Prenat Diagn
; 42(12): 1488-1492, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35801292
18.
Prenatal isolated clubfoot increases the risk for clinically significant exome sequencing results.
Prenat Diagn
; 42(13): 1622-1626, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36326072
19.
Prenatal exome sequencing in fetuses with callosal anomalies.
Prenat Diagn
; 42(6): 744-752, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35088901
20.
Prenatal Phenotype of Kabuki Syndrome: Seven Case Series.
Fetal Diagn Ther
; 49(9-10): 371-376, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36436503