Canlyniadau Chwilio - Khalda Amr
- Dangos 1 - 8 canlyniadau o 8
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Association of vitamin D receptor gene polymorphism (VDR) with vitamin D deficiency, metabolic and inflammatory markers in Egyptian obese women gan Moushira Zaki, Sanaa Kamal, Walaa A. Basha, Eman R. Youness, Wafaa M. Ezzat, Hala T. El‐Bassyouni, Khalda Amr
Cyhoeddwyd 2017Artigo -
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Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta gan Pablo Lapunzina, Mona Aglan, Samia A. Temtamy, José A. Caparrós‐Martín, Eulalia Valencia, Rocío Letón, Víctor Martínez‐Glez, Rasha M. Elhossini, Khalda Amr, Nuria Vilaboa, Víctor L. Ruiz‐Pérez
Cyhoeddwyd 2010Artigo -
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Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum gan Maria Trinidad Puig-Hervás, Samia A. Temtamy, Mona Aglan, Eulalia Valencia, Víctor Martínez‐Glez, María Juliana Ballesta‐Martínez, Vanesa López‐González, Adel M. Ashour, Khalda Amr, Verónica Pulido, Encarna Guillén‐Navarro, Pablo Lapunzina, José A. Caparrós‐Martín, Víctor L. Ruiz‐Pérez
Cyhoeddwyd 2012Artigo -
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Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling gan Yun Li, Kathrin Laue, Samia A. Temtamy, Mona Aglan, Leman Damla Kotan, Gökhan Yigit, Husniye Canan, Barbara Pawlik, Gudrun Nürnberg, Emma Wakeling, Oliver Quarrell, Ingelore Baessmann, Matthew B. Lanktree, M. Yılmaz, Robert A. Hegele, Khalda Amr, Klaus W. May, Peter Nürnberg, A. Kemal Topaloğlu, Matthias Hammerschmidt, Bernd Wollnik
Cyhoeddwyd 2010Artigo -
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LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome gan Yun Li, Barbara Pawlik, Nursel Elçioğlu, Mona Aglan, Hülya Kayserili, Gökhan Yigit, E. Ferda Perçin, Frances R. Goodman, Gudrun Nürnberg, Asım Cenani, Jill Urquhart, Boi-Dinh Chung, Samira Ismail, Khalda Amr, Ayça Dilruba Aslanger, Christian Becker, Christian Netzer, Peter Scambler, Wafaa Eyaid, Hanan Hamamy, Jill Clayton‐Smith, Raoul C. M. Hennekam, Peter Nürnberg, Joachim Herz, Samia A. Temtamy, Bernd Wollnik
Cyhoeddwyd 2010Artigo -
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Expanding the phenome and variome of skeletal dysplasia gan Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, Nisha Patel, Fatema Alzahrani, Hanan E. Shamseldin, Shams Anazi, Nour Ewida, Hessa S. Alsaif, Jawahir Y. Mohamed, Anas M. Alazami, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Mohamed Abouelhoda, Dorota Monies, Nada Al Tassan, Muneera J. Alshammari, Afaf Alsagheir, Mohammed Zain Seidahmed, Samira Sogati, Mona Aglan, Muddathir H. Hamad, Mustafa A. Salih, Ahlam A. Hamed, Nadia Alhashmi, Amira Nabil, Fatima Alfadli, Ghada M. H. Abdel‐Salam, Hisham Alkuraya, Winnie Ong Peitee, Wee Teik Keng, Abdullah Qasem, Aziza Mushiba, Maha S. Zaki, Mahmoud R. Fassad, Majid Alfadhel, Saji Alexander, Yasser Sabr, Samia A. Temtamy, Alka V. Ekbote, Samira Ismail, Gamal Ahmed Hosny, Ghada A. Otaify, Khalda Amr, Saeed Al Tala, Arif O. Khan, Tamer Rizk, Aida I. Al‐Aqeel, Abdulmonem Alsiddiky, Ankur Singh, Seema Kapoor, Amal Alhashem, Eissa Faqeih, Ranad Shaheen, Fowzan S. Alkuraya
Cyhoeddwyd 2018Artigo -
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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants gan Caroline Neuray, Reza Maroofian, Marcello Scala, Tipu Sultan, G. Shashidhar Pai, Majid Mojarrad, Heba El Khashab, Leigh deHoll, Wyatt W. Yue, Hessa S. Alsaif, M. Natalia Zanetti, Oscar D. Bello, Richard Person, Atieh Eslahi, Zaynab Khazaei, Masoumeh Heidari Feizabadi, Stéphanie Efthymiou, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed, Hala T. El‐Bassyouni, Doaa Soliman, S. Tekeş, Leyla Özer, Volkan Baltacı, Suliman Khan, Christian Beetz, Khalda Amr, Vincenzo Salpietro, Yalda Jamshidi, Fowzan S. Alkuraya, Henry Houlden
Cyhoeddwyd 2020Artigo
Offerynnau Chwilio:
Pynciau Perthynol
Biology
Genetics
Medicine
Gene
Internal medicine
Anatomy
Endocrinology
Phenotype
Allele
Biochemistry
Cell biology
Osteogenesis imperfecta
Pathology
Bioinformatics
Biomarker
Bone morphogenetic protein
Brachydactyly
Calcitriol receptor
Catenin
Central nervous system
Cohort
Congenital malformations
Connective Tissue Disorder
Connective tissue
Context (archaeology)
Disease
Dysplasia
Environmental health
Enzyme
Epilepsy