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1.
The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development.
Am J Med Genet A
; 191(12): 2831-2836, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37551848
2.
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Genet Med
; 22(3): 538-546, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31723249
3.
Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions.
Clin Genet
; 97(2): 305-311, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31628766
4.
Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features.
J Med Genet
; 56(12): 850-854, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30478137
5.
A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses.
Genet Med
; 21(10): 2199-2207, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-30894705
6.
Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Genet Med
; 20(9): 1099-1102, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29388939
7.
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
Genet Med
; 19(1): 13-19, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27171548
8.
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Genet Med
; 19(2): 224-235, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27513193
9.
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Brain
; 139(Pt 9): 2420-30, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27435091
10.
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
PLoS Genet
; 9(10): e1003823, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-24098143
11.
Methods for identifying higher-order chromatin structure.
Annu Rev Genomics Hum Genet
; 13: 59-82, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22703176
12.
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Eur J Hum Genet
; 2024 Apr 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38565639
13.
Identification of direct downstream targets of Dlx5 during early inner ear development.
Hum Mol Genet
; 20(7): 1262-73, 2011 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-21227998
14.
Novel approaches to studying the genetic basis of cerebellar development.
Cerebellum
; 9(3): 272-83, 2010 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-20387026
15.
Toward a systems biology of mouse inner ear organogenesis: gene expression pathways, patterns and network analysis.
Genetics
; 177(1): 631-53, 2007 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-17660535
16.
Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.
Clin Case Rep
; 6(7): 1208-1213, 2018 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-29988648
17.
Large scale gene expression profiles of regenerating inner ear sensory epithelia.
PLoS One
; 2(6): e525, 2007 Jun 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-17565378
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