Detalles de la búsqueda
1.
Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing.
BMC Genomics
; 25(1): 391, 2024 Apr 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38649797
2.
Seizure course of PCDH19 clustering epilepsy in female children: A multicentre cohort study in China.
Dev Med Child Neurol
; 2023 Nov 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-37960945
3.
Adsorption/desorption characteristics of low-concentration semi-volatile organic compounds in vapor phase on activated carbon.
J Environ Manage
; 305: 114360, 2022 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34954680
4.
Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis.
BMC Med Genet
; 21(1): 99, 2020 05 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32393352
5.
Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria.
BMC Med Genet
; 19(1): 167, 2018 09 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-30217188
6.
[Analysis of MLC1 gene mutation in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts].
Zhongguo Dang Dai Er Ke Za Zhi
; 17(4): 367-70, 2015 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-25919557
7.
[Detection of subtelomeric copy number variations in children with intellectual disability].
Zhongguo Dang Dai Er Ke Za Zhi
; 17(12): 1273-6, 2015 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-26695663
8.
The effects of early combined training on the physical development of preterm infants with different gestational ages.
Front Pediatr
; 11: 1066751, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36937949
9.
Competitive adsorption characteristics of VOCs and water vapor by activated carbon prepared from Fe/N-doped pistachio shell.
Environ Sci Pollut Res Int
; 30(39): 91262-91275, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-37474861
10.
A Novel Variant of the CHD2 Gene Associated With Developmental Delay and Myoclonic Epilepsy.
Front Genet
; 13: 761178, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35222528
11.
Alkylation modified pistachio shell-based biochar to promote the adsorption of VOCs in high humidity environment.
Environ Pollut
; 295: 118714, 2022 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-34942291
12.
Effect of nitrogen functional groups on competitive adsorption between toluene and water vapor onto nitrogen-doped spherical resorcinol-formaldehyde resin-based activated carbon.
Environ Sci Pollut Res Int
; 29(56): 85257-85270, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-35793021
13.
Case Report: Identification of Two Variants of ALG13 in Families With or Without Seizure and Binocular Strabismus: Phenotypic Spectrum Analysis.
Front Genet
; 13: 892940, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35899201
14.
The adsorption properties of microporous activated carbon prepared from pistachio nut shell for low-concentration VOCs under low-medium temperatures.
Environ Sci Pollut Res Int
; 28(46): 65216-65228, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34228305
15.
Removal characteristics of organic pollutants by the adsorbent injection coupled with bag filtering system.
J Hazard Mater
; 405: 124193, 2021 03 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33268201
16.
Generation of an iPSC line (SMCPGi001-A) from a patient with Bain type X-linked mental retardation syndrome carrying HNRNPH2 gene mutation.
Stem Cell Res
; 57: 102571, 2021 Oct 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-34763229
17.
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
J Hum Genet
; 55(7): 421-7, 2010 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-20431604
18.
Gene-Focused Networks Underlying Phenotypic Convergence in a Systematically Phenotyped Cohort With Heterogeneous Intellectual Disability.
Front Bioeng Biotechnol
; 8: 45, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32117926
19.
[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 26(2): 121-7, 2009 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-19350499
20.
Identification of two novel TPK1 gene mutations in a Chinese patient with thiamine pyrophosphokinase deficiency undergoing whole exome sequencing.
J Pediatr Endocrinol Metab
; 32(3): 295-300, 2019 Mar 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-30789823