Search Results - "Alsaedi, Atif"

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect by Webb, Emma A., Balasubramanian, Meena, Fratzl-Zelman, Nadja, Cabral, Wayne A., Titheradge, Hannah, Alsaedi, Atif, Saraff, Vrinda, Vogt, Julie, Cole, Trevor, Stewart, Susan, Crabtree, Nicola J., Sargent, Brandi M., Gamsjaeger, Sonja, Paschalis, Eleftherios P., Roschger, Paul, Klaushofer, Klaus, Shaw, Nick J., Marini, Joan C., Högler, Wolfgang

“…Abstract Context: Recessive mutations in TMEM38B cause type XIV osteogenesis imperfecta (OI) by dysregulating intracellular calcium flux. Objectives: Clinical…”
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Population insight of the relationship between lifestyle and cancer: A population-based survey by Alshammari, Fawaz Dabea, Ahmed, Hussain Gadelkarim, Alshammari, Dena, Alharbi, Ahmed Mulfy, Alsaedi, Atif Saud, Elasbaly, Abdulbaset

“…There is a substantial rise in the incidence of cancer in Saudi Arabia. Life style models and lack of awareness are the prime suspect in this substantial…”
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Exome sequencing analysis of rare autosomal recessive disorders by Alsaedi, Atif Saud

“…Since the human genome project was completed in 2003, extraordinary progress has been made in the field of genomics with the development of new sequencing…”
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Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome by McKie, Arthur B, Alsaedi, Atif, Vogt, Julie, Stuurman, Kyra E, Weiss, Marjan M, Shakeel, Hassan, Tee, Louise, Morgan, Neil V, Nikkels, Peter G J, van Haaften, Gijs, Park, Soo-Mi, van der Smagt, Jasper J, Bugiani, Marianna, Maher, Eamonn R

“…Foetal akinesia deformation sequence syndrome (FADS) is a genetically heterogeneous disorder characterised by the combination of foetal akinesia and…”
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