Shinu Ansari
Riyadh, 11211, Saudi Arabia
Last Updated: 09/26/2026
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Found 9 publications
T (brachyury) is linked to a Mendelian form of neural tube defects in humans.
Journal: Human genetics
Published: June 25, 2015
Genomic analysis of primordial dwarfism reveals novel disease genes.
Journal: Genome research
Published: January 07, 2014
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
Journal: American journal of human genetics
Published: September 02, 2013
A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome.
Journal: Neurogenetics
Published: June 09, 2013
A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.
Journal: Journal of medical genetics
Published: April 23, 2013
Mutations in TMEM231 cause Meckel-Gruber syndrome.
Journal: Journal of medical genetics
Published: January 26, 2013
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.
Journal: American journal of human genetics
Published: January 13, 2013
Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.
Journal: European journal of human genetics : EJHG
Published: November 22, 2012
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.
Journal: Journal of medical genetics
Published: October 12, 2012
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Last Updated: 09/26/2026