A. Radha Ramadevi

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Sonja A. de Munnik, Louise S. Bicknell, Salim Aftimos et al. · European Journal of Human Genetics · 2012 · 110 citations · Full text

Molecular Diagnosis, Mendelian Disorder, Genetic Disorder +9

Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

Sonja A. de Munnik, Barto J. Otten, Jeroen Schoots et al. · American Journal of Medical Genetics Part A · 2012 · 56 citations · Full text

Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes

A. Radha Ramadevi, E. Chandrakanth Reddy, S. Ranjan et al. · British Journal of Dermatology · 2007 · 27 citations

Mendelian Disorder, Genetic Disorder, Medicine +7

Spectrum of <i>SMPD1</i> mutations in Asian‐Indian patients with acid sphingomyelinase (ASM)‐deficient Niemann–Pick disease

Prajnya Ranganath, Divya Matta, Gandham SriLakshmi Bhavani et al. · American Journal of Medical Genetics Part A · 2016 · 21 citations · Full text

Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18

Karthik S. Prabhakara, Herman E. Wyandt, Xin Huang et al. · Annales de Génétique · 2004 · 10 citations