Essam A. R. Ismail

Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA (NTRK1) Gene Encoding A High-Affinity Receptor for Nerve Growth Factor

Sek Mardy, Yuichi Miura, Fumio Endo et al. · The American Journal of Human Genetics · 1999 · 157 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +16

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

Stephan M. Tanner, Zhongyuan Li, James D. Perko et al. · Proceedings of the National Academy of Sciences · 2005 · 106 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Genetically heterogeneous selective intestinal malabsorption of vitamin B₁₂: Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East

Stephan M. Tanner, Zhong-Yuan Li, Ryan Bisson et al. · Human Mutation · 2004 · 87 citations

Life Sciences, Genetics, Molecular Genetics +15

Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of theTRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutantTRKA andPKLR genes in a family with CIPA and pyruvate kinase deficiency

Yasuhiro Indo, Sek Mardy, Yuichi Miura et al. · Human Mutation · 2001 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A Fatal Small Dose of Phosphate Enema in a Young Child With No Renal or Gastrointestinal Abnormality

Essam A. R. Ismail, Ghalia Al‐Mutairi, Hussain Al‐Anzy · Journal of Pediatric Gastroenterology and Nutrition · 2000 · 43 citations

Medicine, Child Health, Pediatrics +11