Sort   by:  
 Page size 
GenomicsThe molecular basis of inherited reproductive disorders

The purpose of this study is to discover genetic mutations in patients who have GnRH deficient states. This includes individuals with variant forms of hypogonadotropic hypogonadism, including individuals who have somatic anomalies involving mid-line facial defects, renal agenesis, synkinesia, and...

phs000475.v1.p1 | EGA
TranscriptomicsTranscription profiling of human children with mental retardation and immediate family members
The cause of mental retardation in one-third to one-half of all affected individuals is unknown. Microscopically-detectable chromosomal abnormalities are the most frequent recognized cause, but gain or loss of chromosomal segments that are too small to be seen by conventional cytogenetic analysis ha...
ORGANISM(S): Homo sapiens 
2008-06-21 | E-GEOD-7226 | biostudies-arrayexpress
UnknownAwareness among French healthcare workers of the transmission of multidrug resistant organisms: a large cross-sectional survey.
Not available
S-EPMC6852912 | biostudies-literature
TranscriptomicsContext-dependent actions of Exendin-4 on β-cell function and dynamic changes in islet gene expression over time in vivo
GLP-1 analogues, such as exendin-4, preserve functional β-cell mass in various model systems and are revolutionising management of type 2 diabetes. Yet, comparatively little is known about effectiveness in the face of severe β-cell depletion. Moreover, direct and sequential effects of exendin-4 on...
ORGANISM(S): Mus musculus 
2014-04-11 | E-GEOD-37936 | biostudies-arrayexpress
UnknownDetection of SARS-CoV-2 N-antigen in blood during acute COVID-19 provides a sensitive new marker and new testing alternatives.
Not available
S-EPMC7724284 | biostudies-literature
GenomicsIntegrative analysis of small cell lung cancer
Small-cell lung cancer (SCLC) is an aggressive lung tumor subtype. We conducted integrated analysis of genome sequencing, transcriptome, and copy number analysis and found an extremely high mutation rate of 7.4±1 protein-changing mutations per million basepairs. Evidence for inactivation of TP53 and...
EGAS00001000299 | EGA
Genomicsena-DATASET-RTL-13-12-2013-10:28:27:441-48 - samples
SCLC - Whole genome sequencing data Publication Peifer et al., 2012, Nature Genetics
EGAD00001000703 | EGA
Genomicsena-DATASET-RTL-02-07-2015-13:42:15:919-50 - samples
SCLC - RNA sequencing data Publication Peifer et al., 2012, Nature Genetics
EGAD00001001431 | EGA
GenomicsSCLC_6.0 - samples
SNP 6.0 arrays of small cell lung cancer
EGAD00010000526 | EGA
UnknownAssessment of ex vivo antimalarial drug efficacy in African Plasmodium falciparum parasite isolates, 2016-2023: a genotype-phenotype association study.
Not available
S-EPMC12274720 | biostudies-literature
Sort   by:  
 Page size