Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

ABSTRACT: Case report: Novel genetic variant associated with epilepsy

PROVIDER: PRJNA956710 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR24201495_1.fastq.gz	Fastqsanger.gz
	SRR24201495_2.fastq.gz	Fastqsanger.gz

Items per page:

1 - 2 of 2

Similar Datasets

Project description:Case Report: Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis

| PRJNA962274 | ENA

Project description:Challenging of ECMO Application in Pediatric Restrictive Cardiomyopathy: Case Report of a Novel TNNI3 Variant

| PRJNA1109441 | ENA

Project description:LAMM syndrome with cholesteatoma associated with a novel FGF3 mutation: A Case Report

| PRJNA982127 | ENA

Project description:A Case report: Novel treatment for complicated pathological MIBC

| PRJNA773243 | ENA

Project description:Case Report: Clinical and Genetic features in a case of pediatric choroidal melanoma

| PRJEB85793 | ENA

Novel type of EATL evolving from mucosal γδ-T-cells in a RCD type I patient

Project description:Enteropathy associated T-cell lymphoma (EATL) is a rare non-Hodgkin lymphoma that may complicate celiac disease and typically occurs in patients with refractoriness to the gluten- free diet. The majority of these patients harbor intra-epithelial lymphocytes (IEL) with an aberrant phenotype in the small intestine which are thus considered as the ‘precursor’ lymphoma cells. We here report on a case of extra-intestinal EATL that originated from a clonal γδ-IEL population rather than from aberrant IEL. This EATL displayed a distinctive pattern of immunophenotypical, T-cell receptor immunogenetic, and chromosomal aberrancies defining this lymphoma as a novel variant of EATL.

2014-04-02 | GSE56425 | GEO

undefined

Project description:A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

| PRJEB57294 | ENA

Project description:New Clinical Features and a Novel DCDC2 Variant in Neonatal Sclerosing Cholangitis: A Case Report of Two Patients

| PRJNA1251848 | ENA

A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

Project description:A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

| PRJEB56864 | ENA

Novel type of EATL evolving from mucosal M-NM-3M-NM-4-T-cells in a RCD type I patient

Project description:Enteropathy associated T-cell lymphoma (EATL) is a rare non-Hodgkin lymphoma that may complicate celiac disease and typically occurs in patients with refractoriness to the gluten- free diet. The majority of these patients harbor intra-epithelial lymphocytes (IEL) with an aberrant phenotype in the small intestine which are thus considered as the M-bM-^@M-^XprecursorM-bM-^@M-^Y lymphoma cells. We here report on a case of extra-intestinal EATL that originated from a clonal M-NM-3M-NM-4-IEL population rather than from aberrant IEL. This EATL displayed a distinctive pattern of immunophenotypical, T-cell receptor immunogenetic, and chromosomal aberrancies defining this lymphoma as a novel variant of EATL. sample vs reference

2014-04-02 | E-GEOD-56425 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data