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1.
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(4): 739-748, 2021 04 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33711248
2.
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 109(3): 542-546, 2022 Mar 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35245475
3.
Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality.
Exp Cell Res
; 383(1): 111469, 2019 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31302032
4.
Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment.
Neurobiol Dis
; 132: 104583, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31445158
5.
ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function.
Front Mol Neurosci
; 15: 988993, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36353360
6.
DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors.
Clin Epigenetics
; 12(1): 9, 2020 01 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31915063
7.
Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations.
Stem Cell Res
; 38: 101474, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31176917
8.
Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations.
Stem Cell Res
; 39: 101523, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31400703
9.
Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant.
Stem Cell Res
; 39: 101518, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31376723
10.
Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions.
Mol Neurobiol
; 56(10): 7113-7127, 2019 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-30989628
11.
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.
Front Genet
; 10: 896, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31608123
12.
Recurrent Sleep Fragmentation Induces Insulin and Neuroprotective Mechanisms in Middle-Aged Flies.
Front Aging Neurosci
; 8: 180, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27531979
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