Detalles de la búsqueda
1.
PLPPR4 haploinsufficiency causes neurodevelopmental disorders by disrupting synaptic plasticity via mTOR signalling.
J Cell Mol Med
; 27(21): 3286-3295, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37550884
2.
[Manufacturing classification system for oral solid dosage forms of traditional Chinese medicines(â £): classification of hygroscopicity behaviors of capsules].
Zhongguo Zhong Yao Za Zhi
; 48(15): 3997-4006, 2023 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-37802767
3.
[Discrete element simulation study of mixing process of Guizhi Fuling Capsules: parameter calibration].
Zhongguo Zhong Yao Za Zhi
; 48(15): 4007-4014, 2023 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-37802768
4.
[Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(3): 282-285, 2022 Mar 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35315036
5.
Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.
J Clin Lab Anal
; 35(2): e23647, 2021 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-33124154
6.
The distal arthrogryposis-linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3.
J Clin Lab Anal
; 35(12): e24089, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34766372
7.
The variations in human orphan G protein-coupled receptor QRFPR affect PI3K-AKT-mTOR signaling.
J Clin Lab Anal
; 35(7): e23822, 2021 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-34018631
8.
[Analysis of genetic variation for a child affected with congenital insensitivity to pain with anhidrosis and albinism by whole genome sequencing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(5): 472-476, 2021 May 10.
Artículo
en Zh
| MEDLINE | ID: mdl-33974259
9.
[Analysis of TWNK variant in a family affected with Perrault syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(7): 739-742, 2020 Jul 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32619254
10.
[Analysis of MYH3 gene variation and prenatal diagnosis for two pedigrees affected with congenital arthrogryposis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(5): 447-450, 2019 May 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31030430
11.
[Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(3): 217-220, 2019 Mar 10.
Artículo
en Zh
| MEDLINE | ID: mdl-30835349
12.
[Variant analysis for a pedigree affected with limb-girdle muscular dystrophy type 2D].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(2): 136-139, 2019 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-30703231
13.
[Mutation analysis and prenatal diagnosis for 50 pedigrees affected with Duchenne/Becker muscular dystrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(2): 169-174, 2018 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-29652985
14.
[Whole exome sequencing analysis for a Chinese pedigree affected with X-Linked intellectual disability].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(3): 403-407, 2018 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-29896742
15.
[Mutational analysis and prenatal diagnosis in a family affected with hypophosphatemic rickets].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(5): 633-636, 2017 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28981921
16.
[Mutation analysis and prenatal diagnosis for 12 families affected with hereditary hearing loss and enlarged vestibular aqueduct].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(3): 336-341, 2017 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28604950
17.
[Analysis of genome-wide copy number variations among fetuses with abnormalities detected by prenatal ultrasouography].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(2): 178-182, 2017 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28397213
18.
[Mutation analysis for a Chinese family affected with Escobar syndrome by whole exome sequencing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(2): 209-212, 2017 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28397220
19.
[Analysis of clinical phenotypes and GJB2 gene mutations in families affected with hearing loss from southern Zhejiang].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(4): 519-523, 2017 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28777850
20.
Prenatal Diagnosis of DNA Copy Number Variations by Genomic Single-Nucleotide Polymorphism Array in Fetuses with Congenital Heart Defects.
Fetal Diagn Ther
; 39(1): 64-73, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26184588