Alka V. Ekbote
Aurangabad, MH, India
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 17 publications
Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia.
Journal: European journal of human genetics : EJHG
Published: April 07, 2024
Expanding the phenome and variome of skeletal dysplasia.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 19, 2017
Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome.
Journal: American journal of medical genetics. Part A
Published: February 21, 2017
Biotin thiamine responsive basal ganglia disease-A potentially treatable inborn error of metabolism.
Biotin thiamine responsive basal ganglia disease-A potentially treatable inborn error of metabolism.
Journal: Neurology India
Published: November 15, 2016
De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities.
Journal: Clinical dysmorphology
Published: July 06, 2016
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.
Journal: American journal of medical genetics. Part A
Published: June 11, 2015
Spectrum of phenotype and genotype of congenital isolated hypogonadotropic hypogonadism in Asian Indians.
Journal: Clinical endocrinology
Published: May 18, 2015
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 04, 2015
Last Updated: 09/26/2026