M. Eswara

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Ying Liu, Jing Xie, Eric Legius, 2015, Human mutation.

Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders.

J. Charrow, G. Enns, J. Vockley, 2016, Molecular genetics and metabolism.

A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation

J. Rosenfeld, P. Stankiewicz, D. Stockton, 2011, American journal of medical genetics. Part A.

De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosomes 4, 18, and 21 in a girl with mental retardation: report and review.

M. Eswara, J. Batanian, 1998, American journal of medical genetics.

Duane retraction syndrome associated with Rubinstein-Taybi syndrome.

M. Eswara, G. Lueder, D. M. Mason, 1995, Ophthalmic genetics.

Genotype–phenotype characterization in 13 individuals with chromosome Xp11.22 duplications

D. J. Driscoll, Kelly L. Adams, J. Rosenfeld, 2016, American journal of medical genetics. Part A.

Developmental Diseases of the Nervous System

M. Eswara, G. Fenton, S. Kotagal, 2003 .

Developmental disorders.

J. Parisi, M. Eswara, L. Wong-Kisiel, 1997, Current opinion in neurology.