Samia A. Temtamy - Concepedia

Author

Samia A. Temtamy

Also Known As

Laurent Villard, Mona S. Aglan, S A Temtamy, S Temtamy, S. A. TEMTAMY, S. A. Temtamy, S. Temtamy, S.A Temtamy, S.A. TEMTAMY, S.A. Temtamy

185

Publications

6.7K

Citations

H-Index

135

Concepts

All Affiliations

National Research Centre National Water Research Center Centre for Biomedical Network Research on Rare Diseases Hospital Universitario La Paz Universidad Autónoma de Madrid

About

Samia A. Temtamy is an author at National Research Centre specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	32	59	4.2K
2	Public Health	8	8	277
3	Natural Sciences	2	2	205
4	Health Sciences	1	1	13
5	Social Sciences	1	1	333

Samia A. Temtamy

Publications

6.3K

Citations

H-Index

Page 1

	Year	Citations
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis Carmel Toomes, Jacqueline A. James, Andrew J. Wood, Nature Genetics Periodontal DiseaseGeneticsPathogenesisPathologyMolecular Genetics	1999	489
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study Gillian Rice, Gabriella Forte, Marcin Szynkiewicz, The Lancet Neurology Genetic DisorderAicardi-goutières SyndromeGeneticsMedicineImmunology	2013	425
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report Hanan Hamamy, Stylianos E. Antonarakis, Luigi Luca Cavalli-Sforza, Genetics in Medicine Intimate RelationshipGender StudiesSociologyConsanguineous MarriagesForced Marriage	2011	333
Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta Pablo Lapunzina, Mona Aglan, Samia A. Temtamy, The American Journal of Human Genetics Bone DiseaseRecessive Osteogenesis ImperfectaDevelopmental BiologyOsteopathyGenetics	2010	283
Mutations in WNT1 Cause Different Forms of Bone Fragility Katharina Keupp, Filippo Beleggia, Hülya Kayserili, The American Journal of Human Genetics Bone DiseaseBone FragilityBone Morphogenic ProteinGeneticsBone Homeostasis	2013	277
Extending the scope of the VATER association: Definition of the VATER syndrome Samia A. Temtamy, Jordan Miller The Journal of Pediatrics Vater AssociationPsychologyVater Syndrome	1974	261
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta Víctor Martínez‐Glez, José A. Caparrós‐Martín, Mona Aglan, Human Mutation SclerostinGeneticsBone RepairNormal MtldOsteogenesis	2011	213
LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome Yun Li, Barbara Pawlik, Nursel Elçioğlu, The American Journal of Human Genetics	2010	163
Letter from the Secretary of Theodore Roosevelt to James J. Conway 1911-01-23 Samia A. Temtamy Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)	1911	142
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Nature Genetics Cell AutophagyMitophagyBiallelic MutationsCerebellar AtrophyMendelian Disorder	2015	134

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