Ismail, Essam A.R.

Top Publications

Top Publications Authored or Co-Authored by "Ismail, Essam A.R."

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

  Proceedings of the National Academy of Sciences of the United States of America, Volume 102, No. 11, Year 2005, Citations 92
• Genetically Heterogeneous Selective Intestinal Malabsorption of Vitamin B12: Founder Effects, Consanguinity, and High Clinical Awareness Explain Aggregations in Scandinavia and the Middle East

  Human Mutation, Volume 23, No. 4, Year 2004, Citations 77
• Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency

  Human Mutation, Volume 18, No. 4, Year 2001, Citations 65
• Congenital insensitivity to pain with anhidrosis: Lack of eccrine sweat gland innervation confirmed

  Journal of Child Neurology, Volume 13, No. 5, Year 1998, Citations 24
• Congenital insensitivity to pain with anhidrosis: Novel mutations in the TRKA (NTRK1)gene encoding a high-affinity receptor for nerve growth factor

  American Journal of Human Genetics, Volume 64, No. 6, Year 1999, Citations 14