Detalles de la búsqueda
1.
Identify gestational diabetes mellitus by deep learning model from cell-free DNA at the early gestation stage.
Brief Bioinform;
25(1)2023 11 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38168840
2.
The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.
Hum Genomics;
17(1): 36, 2023 04 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-37098607
3.
ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activity.
Mol Psychiatry;
28(3): 1219-1231, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36604604
4.
The association between dyslipidaemia in the first trimester and adverse pregnancy outcomes in pregnant women with subclinical hypothyroidism: a cohort study.
Lipids Health Dis;
23(1): 13, 2024 Jan 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38212787
5.
[An evaluation of carrier detection for Spinal muscular atrophy using digital PCR assay].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
41(1): 20-24, 2024 Jan 10.
Artículo
en Zh
| MEDLINE | ID: mdl-38171554
6.
Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria.
Hum Mutat;
43(1): 56-66, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34747549
7.
Single-Tube Multiplex Digital Polymerase Chain Reaction Assay for Molecular Diagnosis and Prediction of Severity of Spinal Muscular Atrophy.
Anal Chem;
94(8): 3517-3525, 2022 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35137581
8.
Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.
J Clin Lab Anal;
35(1): e23567, 2021 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-32909271
9.
[Progress of research on clinical use of non-invasive prenatal screening for special groups of pregnant women].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
38(7): 694-698, 2021 Jul 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34247381
10.
A novel frameshift variant in SON causes Zhu-Tokita-Takenouchi-Kim Syndrome.
J Clin Lab Anal;
34(8): e23326, 2020 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-32291808
11.
Compound heterozygous variants of the FBXO7 gene resulting in infantile-onset Parkinsonian-pyramidal syndrome in siblings of a Chinese family.
J Clin Lab Anal;
34(8): e23324, 2020 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-32274857
12.
[Identification of a novel c.1A>G variant of GDAP1 gene in a pedigree affected with autosomal recessive fibula atrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
37(11): 1244-1246, 2020 Nov 10.
Artículo
en Zh
| MEDLINE | ID: mdl-33179230
13.
ATP9A knockdown leads to neurite fracture and retraction.
Mol Psychiatry;
28(3): 967, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36899213
14.
Evaluation of droplet digital PCR for non-invasive prenatal diagnosis of phenylketonuria.
Anal Bioanal Chem;
411(27): 7115-7126, 2019 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-31485704
15.
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.
Metab Brain Dis;
34(3): 733-745, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30747360
16.
MicroRNA-362-3p attenuates motor deficit following spinal cord injury via targeting paired box gene 2.
J Integr Neurosci;
18(1): 57-64, 2019 Mar 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-31091849
17.
[Identification of a novel PAX6 mutation in a sporadic case with congenital aniridia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
36(6): 616-619, 2019 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31055820
18.
[Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
35(1): 81-83, 2018 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-29419867
19.
[Congenital central hypoventilation syndrome: analysis of PHOX2B gene mutation in a case].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
32(5): 665-9, 2015 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-26418987
20.
[The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
31(6): 686-92, 2014 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-25449068