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Samia A. Temtamy | doi.page

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Samia A. Temtamy

Publications by Year

Research Areas

Connective tissue disorders research, Congenital limb and hand anomalies, Genomic variations and chromosomal abnormalities, Hedgehog Signaling Pathway Studies, Prenatal Screening and Diagnostics

Most-Cited Works

→ Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis(1999)491 cited
→ Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study(2013)433 cited
→ Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report(2011)337 cited
→ Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta(2010)287 cited
→ Mutations in WNT1 Cause Different Forms of Bone Fragility(2013)281 cited
→ Extending the scope of the VATER association: Definition of the VATER syndrome(1974)263 cited

→ Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta(2011)

215 cited

→ LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome(2010)164 cited

→ Brachydactyly(2008)149 cited

Letter from the Secretary of Theodore Roosevelt to James J. Conway 1911-01-23(1911)