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Shaikh TH
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Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation
Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish
The 22q11 low copy repeats are characterized by unprecedented size and structural variability
X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns
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