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C.S. Mott Children's Hospital

Research

Ayesha Ahmad, M.B.B.S.

Evaluation of long term outcomes and best practice guidelines for management of patients with inborn errors of metabolism; and outcomes of patients with metabolic diseases detected pre-symptomatically by newborn screening.

   
Hannibal, MC

Mark Charles Hannibal, M.D., Ph.D.

Genetics Kabuki Syndrome

   

Jeffrey W. Innis, M.D., Ph.D.
Morton S. and Henrietta L. Sellner Professor of Human Genetics


Limb development, role of HOX genes in development.

   
Catherine E. Keegan, M.D., Ph.D.

The ACD Mouse: A Model for Congenital Adrenal Hypoplasia, Adrenocortical development, Caudal development, Neural tube defects.
   
donna martin

Donna M. Martin, M.D., Ph.D.

The Role of Pitx2 in the Mammalian Central Nervous System and Genetic Basis of Neuronal Development.

   

Jess G. Thoene, M.D.

Role of abberant apoptosis in causing the nephropathic phenotype in cystinosis.