Detalhe da pesquisa
1.
Motor patterns of patients with spinal muscular atrophy suggestive of sensory and corticospinal contributions to the development of locomotor muscle synergies.
J Neurophysiol
; 131(2): 338-359, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38230872
2.
CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK-Related Syndrome.
Ann Neurol
; 94(6): 1136-1154, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37597256
3.
Identification of the Efficient Enhancer Elements in FVIII-Padua for Gene Therapy Study of Hemophilia A.
Int J Mol Sci
; 25(7)2024 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38612447
4.
Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia.
Clin Chem
; 69(3): 239-250, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36683393
5.
Chinese experts' consensus guideline on preimplantation genetic testing of monogenic disorders.
Hum Reprod
; 38(Supplement_2): ii3-ii13, 2023 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982416
6.
Noninvasive prenatal testing, ultrasonographic findings and poor prenatal diagnosis rates for twin pregnancies: a retrospective study.
BMC Pregnancy Childbirth
; 23(1): 351, 2023 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37179315
7.
Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.
Oral Dis
; 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129747
8.
Novel Missense Variants in PAX8 and NKX2-1 Cause Congenital Hypothyroidism.
Int J Mol Sci
; 24(1)2023 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36614229
9.
CRISPR-Mediated In Situ Introduction or Integration of F9-Padua in Human iPSCs for Gene Therapy of Hemophilia B.
Int J Mol Sci
; 24(10)2023 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37240366
10.
[Expert consensus on the detection of genome-wide copy number variations in abortive tissues and family reproductive consultation].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(2): 129-134, 2023 Feb 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36709928
11.
[Consensus on laboratory diagnosis of congenital adrenal hyperplasia due to 21 hydroxylase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(7): 769-780, 2023 Jul 10.
Artigo
em Zh
| MEDLINE | ID: mdl-37368376
12.
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.
Hum Mutat
; 43(5): 568-581, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35143101
13.
Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.
Clin Chem
; 68(7): 927-939, 2022 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35714169
14.
Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.
Clin Chem
; 68(12): 1529-1540, 2022 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36171182
15.
A novel homozygous mutation in the PADI6 gene causes early embryo arrest.
Reprod Health
; 19(1): 190, 2022 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36088419
16.
Fertilization and neonatal outcomes after early rescue intracytoplasmic sperm injection: a retrospective analysis of 16,769 patients.
Arch Gynecol Obstet
; 306(1): 249-258, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35380279
17.
Ectopic Expression of FVIII in HPCs and MSCs Derived from hiPSCs with Site-Specific Integration of ITGA2B Promoter-Driven BDDF8 Gene in Hemophilia A.
Int J Mol Sci
; 23(2)2022 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35054807
18.
Full-Length Dystrophin Restoration via Targeted Exon Addition in DMD-Patient Specific iPSCs and Cardiomyocytes.
Int J Mol Sci
; 23(16)2022 Aug 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36012442
19.
Targeted-Deletion of a Tiny Sequence via Prime Editing to Restore SMN Expression.
Int J Mol Sci
; 23(14)2022 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35887289
20.
[Clinical practice guidelines for Fragile X syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(11): 1181-1186, 2022 Nov 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36317200