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Chromosome 15q13.3 Microdeletion Syndrome

Known as: 15q13.3 Microdeletion Syndrome, Microdeletion 15q13.3 Syndrome, Chromosome 15q13.3 Deletion Syndrome 
National Institutes of Health

Papers overview

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2019
2019
The 15q11.2 BP1–BP2 microdeletion (Burnside–Butler) syndrome is an emerging disorder that encompasses four genes (NIPA1, NIPA2… 
2016
2016
OBJECTIVE To discuss the treatment options for patients with azoospermia factor (AZF) c microdeletion on Y chromosome. METHODS… 
2014
2014
Abstract We report a 10-year-old Caucasian male identified with copy number variation detected by microarray analysis including a… 
2014
2014
The proximal 15q11–q13 region contains 5 breakpoints (BP1–BP5). The BP1-BP2 region spans approximately 500 kb and contains four… 
2013
2013
West syndrome is a well‐recognized form of epilepsy, defined by a triad of infantile spasms, hypsarrhythmia and developmental… 
Review
2013
Review
2013
Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0… 
2012
2012
Objectives: To characterize clinically and genetically a family with autosomal dominant lateral temporal epilepsy (ADLTE… 
2002
2002
During the last few years, microdeletions of the long arm of the Y chromosome, involving loci AZFa, AZFb, and AZFc, have been… 
1998
1998
The Rubinstein-Taybi syndrome (RTS) is a well-defined entity characterized by growth and mental retardation, broad thumbs and…