Brachydactyly

द्वारा Temtamy, Samia A, Aglan, Mona S
प्रकाशित 2008

Genetics and Genomic Medicine in Egypt: steady pace

द्वारा Temtamy, Samia Ali, Hussen, Dalia Farouk
में प्रकाशित Mol Genet Genomic Med (2017)

AB002. Human genetics at the National Research Centre in Egypt: history, achievements and challenges

द्वारा El Gammal, Mona, Aglan, Mona, Temtamy, Samia
में प्रकाशित Ann Transl Med (2017)

AB030. Study of bone turnover markers and treatment monitoring in osteogenesis imperfecta

द्वारा Gouda, Amr, Temtamy, Samia, Ali, Ola, Nazim, Walaa, Aglan, Mona, Otaify, Ghada
में प्रकाशित Ann Transl Med (2017)

Characteristics of patients with congenital clasped thumb: a prospective study of 40 patients with the results of treatment

द्वारा Hisham Abdel Ghani, El-Naggar, Ahmed, Hegazy, Mohamad, Hanna, Atef, Tarraf, Yehia, Temtamy, Samia
प्रकाशित 2007

Dyggve–Melchior–Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families

द्वारा Aglan, Mona S., Temtamy, Samia A., Fateen, Ekram, Ashour, Adel M., Eldeeb, Khamis, Hosny, Gamal A.
प्रकाशित 2009

Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective

द्वारा Gagliardi, Assunta, Besio, Roberta, Carnemolla, Chiara, Landi, Claudia, Armini, Alessandro, Aglan, Mona, Otaify, Ghada, Temtamy, Samia A., Forlino, Antonella, Bini, Luca, Bianchi, Laura
में प्रकाशित J Proteomics (2017)

A scoring system for the assessment of clinical severity in osteogenesis imperfecta

द्वारा Aglan, Mona S., Hosny, Laila, El-Houssini, Rasha, Abdelhadi, Sawsan, Salem, Fadia, ElBanna, Rokia A. S., Awad, Seham A., Zaki, Moushira E., Temtamy, Samia A.
प्रकाशित 2012

Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate

द्वारा Besio, Roberta, Garibaldi, Nadia, Leoni, Laura, Cipolla, Lina, Sabbioneda, Simone, Biggiogera, Marco, Mottes, Monica, Aglan, Mona, Otaify, Ghada A., Temtamy, Samia A., Rossi, Antonio, Forlino, Antonella
में प्रकाशित Dis Model Mech (2019)

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

द्वारा Lapunzina, Pablo, Aglan, Mona, Temtamy, Samia, Caparrós-Martín, José A., Valencia, Maria, Letón, Rocío, Martínez-Glez, Victor, Elhossini, Rasha, Amr, Khalda, Vilaboa, Nuria, Ruiz-Perez, Victor L.
प्रकाशित 2010

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

द्वारा Shaheen, Ranad, Aglan, Mona, Keppler-Noreuil, Kim, Faqeih, Eissa, Ansari, Shinu, Horton, Kim, Ashour, Adel, Zaki, Maha S., Al-Zahrani, Fatema, Cueto-González, Anna M., Abdel-Salam, Ghada, Temtamy, Samia, Alkuraya, Fowzan S.
प्रकाशित 2013

Identification of a Mutation Causing Deficient BMP1/mTLD Proteolytic Activity in Autosomal Recessive Osteogenesis Imperfecta

द्वारा Martínez-Glez, Víctor, Valencia, Maria, Caparrós-Martín, José A., Aglan, Mona, Temtamy, Samia, Tenorio, Jair, Pulido, Veronica, Lindert, Uschi, Rohrbach, Marianne, Eyre, David, Giunta, Cecilia, Lapunzina, Pablo, Ruiz-Perez, Victor L.
प्रकाशित 2011

The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1

द्वारा Hanson, Dan, Murray, Philip G., Sud, Amit, Temtamy, Samia A., Aglan, Mona, Superti-Furga, Andrea, Holder, Sue E., Urquhart, Jill, Hilton, Emma, Manson, Forbes D.C., Scambler, Peter, Black, Graeme C.M., Clayton, Peter E.
प्रकाशित 2009

Recurrent Homozygous Damaging Mutation in TMX2, Encoding a Protein Disulfide Isomerase, in Four Families with Microlissencephaly

द्वारा Ghosh, Shereen G., Wang, Lu, Breuss, Martin W., Green, Joshua D., Stanley, Valentina, Yang, Xiaoxu, Ross, Danica, Traynor, Bryan J., Alhashem, Amal, Azam, Matloob, Selim, Laila, Bastaki, Laila, Elbastawisy, Hanan I., Temtamy, Samia, Zaki, Maha S., Gleeson, Joseph G.
में प्रकाशित J Med Genet (2019)

Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

द्वारा Li, Yun, Laue, Kathrin, Temtamy, Samia, Aglan, Mona, Kotan, L. Damla, Yigit, Gökhan, Canan, Husniye, Pawlik, Barbara, Nürnberg, Gudrun, Wakeling, Emma L., Quarrell, Oliver W., Baessmann, Ingelore, Lanktree, Matthew B., Yilmaz, Mustafa, Hegele, Robert A., Amr, Khalda, May, Klaus W., Nürnberg, Peter, Topaloglu, A. Kemal, Hammerschmidt, Matthias, Wollnik, Bernd
प्रकाशित 2010

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

द्वारा Caparrós-Martín, José A., De Luca, Alessandro, Cartault, François, Aglan, Mona, Temtamy, Samia, Otaify, Ghada A., Mehrez, Mennat, Valencia, María, Vázquez, Laura, Alessandri, Jean-Luc, Nevado, Julián, Rueda-Arenas, Inmaculada, Heath, Karen E., Digilio, Maria Cristina, Dallapiccola, Bruno, Goodship, Judith A., Mill, Pleasantine, Lapunzina, Pablo, Ruiz-Perez, Victor L.
में प्रकाशित Hum Mol Genet (2015)

LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

द्वारा Li, Yun, Pawlik, Barbara, Elcioglu, Nursel, Aglan, Mona, Kayserili, Hülya, Yigit, Gökhan, Percin, Ferda, Goodman, Frances, Nürnberg, Gudrun, Cenani, Asim, Urquhart, Jill, Chung, Boi-Dinh, Ismail, Samira, Amr, Khalda, Aslanger, Ayca D., Becker, Christian, Netzer, Christian, Scambler, Pete, Eyaid, Wafaa, Hamamy, Hanan, Clayton-Smith, Jill, Hennekam, Raoul, Nürnberg, Peter, Herz, Joachim, Temtamy, Samia A., Wollnik, Bernd
प्रकाशित 2010

Mutations in ANTXR1 Cause GAPO Syndrome

द्वारा Stránecký, Viktor, Hoischen, Alexander, Hartmannová, Hana, Zaki, Maha S., Chaudhary, Amit, Zudaire, Enrique, Nosková, Lenka, Barešová, Veronika, Přistoupilová, Anna, Hodaňová, Kateřina, Sovová, Jana, Hůlková, Helena, Piherová, Lenka, Hehir-Kwa, Jayne Y., de Silva, Deepthi, Senanayake, Manouri P., Farrag, Sameh, Zeman, Jiří, Martásek, Pavel, Baxová, Alice, Afifi, Hanan H., St. Croix, Brad, Brunner, Han G., Temtamy, Samia, Kmoch, Stanislav
प्रकाशित 2013

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

द्वारा Caparros‐Martin, Jose A., Aglan, Mona S., Temtamy, Samia, Otaify, Ghada A., Valencia, Maria, Nevado, Julián, Vallespin, Elena, Del Pozo, Angela, Prior de Castro, Carmen, Calatrava‐Ferreras, Lucia, Gutierrez, Pilar, Bueno, Ana M., Sagastizabal, Belen, Guillen‐Navarro, Encarna, Ballesta‐Martinez, Maria, Gonzalez, Vanesa, Basaran, Sarenur Y., Buyukoglan, Ruksan, Sarikepe, Bilge, Espinoza‐Valdez, Cecilia, Cammarata‐Scalisi, Francisco, Martinez‐Glez, Victor, Heath, Karen E., Lapunzina, Pablo, Ruiz‐Perez, Victor L.
में प्रकाशित Mol Genet Genomic Med (2016)

Mutations in WNT1 Cause Different Forms of Bone Fragility

द्वारा Keupp, Katharina, Beleggia, Filippo, Kayserili, Hülya, Barnes, Aileen M., Steiner, Magdalena, Semler, Oliver, Fischer, Björn, Yigit, Gökhan, Janda, Claudia Y., Becker, Jutta, Breer, Stefan, Altunoglu, Umut, Grünhagen, Johannes, Krawitz, Peter, Hecht, Jochen, Schinke, Thorsten, Makareeva, Elena, Lausch, Ekkehart, Cankaya, Tufan, Caparrós-Martín, José A., Lapunzina, Pablo, Temtamy, Samia, Aglan, Mona, Zabel, Bernhard, Eysel, Peer, Koerber, Friederike, Leikin, Sergey, Garcia, K. Christopher, Netzer, Christian, Schönau, Eckhard, Ruiz-Perez, Victor L., Mundlos, Stefan, Amling, Michael, Kornak, Uwe, Marini, Joan, Wollnik, Bernd
प्रकाशित 2013