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GeneDx also performs oligonucleotide-based microarray testing for the detection of chromosomal abnormalities (genomic losses or gains) in individuals with chromosomal anomalies. GeneDx provides testing for autism spectrum disorders, various forms of cardiomyopathy, inherited eye, skin, muscle, hearing, metabolic, neurologic, and mitochondrial ...
GeneDx Holdings (NASDAQ:WGS) stock is trading higher on Tuesday. The genetic testing company reported a third-quarter EPS loss of $(0.31), compared to $(1.64) reported a year ago, beating the ...
Hypergonadotropic hypogonadism (HH), also known as primary or peripheral/gonadal hypogonadism or primary gonadal failure, is a condition which is characterized by hypogonadism which is due to an impaired response of the gonads to the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH), and in turn a lack of sex steroid production. [1]
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. [1]
UniProt is a freely accessible database of protein sequence and functional information, many entries being derived from genome sequencing projects.It contains a large amount of information about the biological function of proteins derived from the research literature.
Grodman was born in New York City. His father, Marc Grodman, an assistant professor at the Columbia University Vagelos College of Physicians and Surgeons, is the founder of BioReference, a biotech company and led several biotech companies including GeneDx and Genosity.
Townes–Brocks syndrome [1] (TBS) is a rare genetic disease that has been described in approximately 200 cases in the published literature. It affects both males and females equally. [2]
51151 22293 Ensembl ENSG00000281919 ENSG00000164175 ENSMUSG00000022243 UniProt Q9UMX9 P58355 RefSeq (mRNA) NM_001012509 NM_001297417 NM_016180 NM_053077 RefSeq (protein) NP_001012527 NP_001284346 NP_057264 NP_444307 Location (UCSC) Chr 5: 33.94 – 33.98 Mb Chr 15: 11 – 11.03 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Membrane-associated transporter protein (MATP), also known ...
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