Detalles de la búsqueda
1.
CSMD3 Deficiency Leads to Motor Impairments and Autism-Like Behaviors via Dysfunction of Cerebellar Purkinje Cells in Mice.
J Neurosci
; 43(21): 3949-3969, 2023 05 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-37037606
2.
CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK-Related Syndrome.
Ann Neurol
; 94(6): 1136-1154, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37597256
3.
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
4.
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.
Am J Hum Genet
; 105(5): 996-1004, 2019 11 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31587869
5.
Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.
BMC Pediatr
; 22(1): 65, 2022 01 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-35081925
6.
[Clinical and genetic analysis of three children with 22q13 deletion syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(7): 680-684, 2022 Jul 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35810420
7.
[Development of the certified reference material of chromium in freeze-dried human urine].
Wei Sheng Yan Jiu
; 51(5): 803-807, 2022 Sep.
Artículo
en Zh
| MEDLINE | ID: mdl-36222044
8.
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Am J Hum Genet
; 103(3): 448-455, 2018 09 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30122539
9.
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.
J Hum Genet
; 66(8): 761-768, 2021 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-33597727
10.
Microtubule self-organisation during seed germination in Arabidopsis.
BMC Biol
; 18(1): 44, 2020 04 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-32354334
11.
Comparative Time-Course Physiological Responses and Proteomic Analysis of Melatonin Priming on Promoting Germination in Aged Oat (Avena sativa L.) Seeds.
Int J Mol Sci
; 22(2)2021 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-33467472
12.
Melatonin Priming Alleviates Aging-Induced Germination Inhibition by Regulating ß-oxidation, Protein Translation, and Antioxidant Metabolism in Oat (Avena sativa L.) Seeds.
Int J Mol Sci
; 21(5)2020 Mar 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32164355
13.
A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin.
BMC Med Genet
; 20(1): 76, 2019 05 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31064337
14.
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.
BMC Med Genet
; 20(1): 80, 2019 05 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-31088393
15.
Genome-Wide Characterization, Evolution, and Expression Profiling of VQ Gene Family in Response to Phytohormone Treatments and Abiotic Stress in Eucalyptus grandis.
Int J Mol Sci
; 20(7)2019 Apr 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-30974801
16.
Comprehensive Analysis of SnRK Gene Family and their Responses to Salt Stress in Eucalyptus grandis.
Int J Mol Sci
; 20(11)2019 Jun 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31174407
17.
[Clinical effect of double filtration plasmapheresis combined with glucocorticoid and immunosuppressant in treatment of children with severe Henoch-Schönlein purpura nephritis].
Zhongguo Dang Dai Er Ke Za Zhi
; 21(10): 955-959, 2019 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-31642426
18.
The recurrent mutation in RNF220 also causes hypomyelination in China and is a CpG hot spot.
Brain
; 145(12): e122-e124, 2022 12 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-36083980
19.
Nitric Oxide Regulates Seedling Growth and Mitochondrial Responses in Aged Oat Seeds.
Int J Mol Sci
; 19(4)2018 Apr 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29614792
20.
Characterization of Brassinazole resistant (BZR) gene family and stress induced expression in Eucalyptus grandis.
Physiol Mol Biol Plants
; 24(5): 821-831, 2018 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-30150857