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1.
Genome-wide epigenetic signatures facilitated the variant classification of PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders.
Genet Med
; : 101167, 2024 May 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-38770750
2.
Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report.
Mol Genet Metab
; 141(1): 108098, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38061323
3.
Fetal genetically determined birth weight plays a causal role in earlier puberty timing: evidence from human genetic studies.
Hum Reprod
; 39(4): 792-800, 2024 Apr 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38384258
4.
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients.
J Med Genet
; 61(1): 27-35, 2023 Dec 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-37586839
5.
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases.
J Med Genet
; 61(1): 8-17, 2023 Dec 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-37316190
6.
Clinical characteristics and genetic analysis of six children with carnitine palmitoyltransferase 2 deficiency. / å ä¾è碱æ£æ¦é °åºè½¬ç§»é ¶2缺ä¹çæ£å¿ä¸´åºç¹å¾ååºå åå¼åæ.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 53(2): 207-212, 2024 Apr 25.
Artículo
en Inglés, Zh
| MEDLINE | ID: mdl-38650450
7.
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study.
Clin Genet
; 103(6): 655-662, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36945845
8.
[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.
Artículo
en Zh
| MEDLINE | ID: mdl-37368376
9.
[Analysis of disease spectrum for abnormal 3-hydroxyisovalerylcarnitine metabolism identified through newborn screening and clinical diagnosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(12): 1466-1471, 2023 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37994125
10.
Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China.
Hum Mutat
; 43(5): 557-567, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35143115
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35143101
12.
Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.
J Inherit Metab Dis
; 45(3): 593-604, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35212421
13.
Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.
Hum Mutat
; 42(5): 614-625, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33675270
14.
Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays.
J Hum Genet
; 66(4): 409-417, 2021 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-33040084
15.
Clinical features and outcomes of patients with cblC type methylmalonic acidemia carrying gene c.609G>A mutation.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 50(4): 436-443, 2021 Aug 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-34704411
16.
RT-PCR analysis of mRNA revealed the splice-altering effect of rare intronic variants in monogenic disorders.
Ann Hum Genet
; 84(6): 456-462, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32776513
17.
High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study.
Clin Chem
; 66(3): 455-462, 2020 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32031585
18.
Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.
BMC Med Genet
; 21(1): 74, 2020 04 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32268899
19.
Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell-free DNA in maternal plasma.
Prenat Diagn
; 40(3): 324-332, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31697851
20.
Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia.
J Clin Lab Anal
; 34(3): e23106, 2020 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-31762087