檢索結果 - Ismail, Samira

Phenotypic characterization of rare interstitial deletion of chromosome 4 由 Ismail, Samira, Helmy, Nivine A., Mahmoud, Wael M., El-Ruby, Mona O.

獲取全文 獲取全文 獲取全文

Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly 由 Ismail, Samira, Schaffer, Ashleigh E., Rosti, Rasim O., Gleeson, Joseph G., Zaki, Maha S.

獲取全文 獲取全文 獲取全文

Genetic Variants of Neurotransmitter-Related Genes and miRNAs in Egyptian Autistic Patients 由 Salem, Ahmed M., Ismail, Samira, Zarouk, Waheba A., Abdul Baky, Olwya, Sayed, Ahmed A., Abd El-Hamid, Sawsan, Salem, Sohair

獲取全文 獲取全文 獲取全文

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients 由 Zaki, Maha S., Selim, Laila, EL-Bassyouni, Hala T., Issa, Mahmoud Y., Mahmoud, Iman, Ismail, Samira, Girgis, Mariane, Sadek, Abdelrahim A., Gleeson, Joseph G., Abdel Hamid, Mohamed S.

獲取全文 獲取全文 獲取全文

Mutation in WDR4 impairs tRNA m(7)G(46) methylation and causes a distinct form of microcephalic primordial dwarfism 由 Shaheen, Ranad, Abdel-Salam, Ghada M H, Guy, Michael P., Alomar, Rana, Abdel-Hamid, Mohamed S., Afifi, Hanan H., Ismail, Samira I., Emam, Bayoumi A., Phizicky, Eric M., Alkuraya, Fowzan S.

獲取全文 獲取全文 獲取全文

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations 由 Thomas, Manal M., Ashaat, Engy A., Otaify, Ghada A., Ismail, Samira, Essawi, Mona L., Abdel-Hamid, Mohamed S., Hassan, Heba A., Alsaiedi, Sonia A., Aglan, Mona, El Ruby, Mona O., Temtamy, Samia

獲取全文 獲取全文 獲取全文

Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature 由 Mekkawy, Mona K., Kamel, Alaa K., Thomas, Manal M., Ashaat, Engy A., Zaki, Maha S., Eid, Ola M., Ismail, Samira, Hammad, Saida A., Megahed, Hisham, ElAwady, Heba, Refaat, Khaled M., Hussien, Shymaa, Helmy, Nivine, Abd Allah, Sally G., Mohamed, Amal M., El Ruby, Mona O.

獲取全文 獲取全文 獲取全文

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly 由 Li, Hongda, Bielas, Stephanie L., Zaki, Maha S., Ismail, Samira, Farfara, Dorit, Um, Kyongmi, Rosti, Rasim O., Scott, Eric C., Tu, Shu, Chi, Neil C., Gabriel, Stacey, Erson-Omay, Emine Z., Ercan-Sencicek, A. Gulhan, Yasuno, Katsuhito, Çağlayan, Ahmet Okay, Kaymakçalan, Hande, Ekici, Barış, Bilguvar, Kaya, Gunel, Murat, Gleeson, Joseph G.

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update 由 Maddirevula, Sateesh, Shamseldin, Hanan E., Sirr, Amy, AlAbdi, Lama, Lo, Russell S., Ewida, Nour, Al-Qahtani, Mashael, Hashem, Mais, Abdulwahab, Firdous, Aboyousef, Omar, Kaya, Namik, Monies, Dorota, Salem, May H., Al Harbi, Naffaa, Aldhalaan, Hesham M., Alzaidan, Hamad, Almanea, Hadeel M., Alsalamah, Abrar K., Al Mutairi, Fuad, Ismail, Samira, Abdel-Salam, Ghada M. H., Alhashem, Amal, Asery, Ali, Faqeih, Eissa, AlQassmi, Amal, Al-Hamoudi, Waleed, Algoufi, Talal, Shagrani, Mohammad, Dudley, Aimée M., Alkuraya, Fowzan S.

獲取全文 獲取全文 獲取全文

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction 由 Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S., Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K., Scott, Eric M., Silhavy, Jennifer L., Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E., Gordts, Philip, Esko, Jeffrey D., Buschman, Matthew D., Fields, Seth J., Napolitano, Gennaro, Ozgul, R. Koksal, Sagiroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Gamal, Iman, Hadi, Sawsan Abdel, El Badawy, Amera, Sadek, Abdelrahim A., Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B., de Lonlay, Pascale, Gleeson, Joseph G.

獲取全文 獲取全文 獲取全文

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) 由 Bramswig, Nuria C., Bertoli-Avella, Aida M., Albrecht, Beate, Aqeel, Aida I. Al, Alhashem, Amal, Al-Sannaa, Nouriya, Bah, Maissa, Bröhl, Katharina, Depienne, Christel, Dorison, Nathalie, Doummar, Diane, Ehmke, Nadja, Elbendary, Hasnaa M., Gorokhova, Svetlana, Héron, Delphine, Horn, Denise, James, Kiely, Keren, Boris, Kuechler, Alma, Ismail, Samira, Issa, Mahmoud Y., Marey, Isabelle, Mayer, Michèle, McEvoy-Venneri, Jennifer, Megarbane, Andre, Mignot, Cyril, Mohamed, Sarar, Nava, Caroline, Philip, Nicole, Ravix, Cecile, Rolfs, Arndt, Sadek, Abdelrahim Abdrabou, Segebrecht, Lara, Stanley, Valentina, Trautman, Camille, Valence, Stephanie, Villard, Laurent, Wieland, Thomas, Engels, Hartmut, Strom, Tim M., Zaki, Maha S., Gleeson, Joseph G., Lüdecke, Hermann-Josef, Bauer, Peter, Wieczorek, Dagmar

獲取全文 獲取全文 獲取全文

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome 由 Palencia-Campos, Adrian, Aoto, Phillip C., Machal, Erik M.F., Rivera-Barahona, Ana, Soto-Bielicka, Patricia, Bertinetti, Daniela, Baker, Blaine, Vu, Lily, Piceci-Sparascio, Francesca, Torrente, Isabella, Boudin, Eveline, Peeters, Silke, Van Hul, Wim, Huber, Celine, Bonneau, Dominique, Hildebrand, Michael S., Coleman, Matthew, Bahlo, Melanie, Bennett, Mark F., Schneider, Amy L., Scheffer, Ingrid E., Kibæk, Maria, Kristiansen, Britta S., Issa, Mahmoud Y., Mehrez, Mennat I., Ismail, Samira, Tenorio, Jair, Li, Gaoyang, Skålhegg, Bjørn Steen, Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Jønch, Aia E., De Luca, Alessandro, Mortier, Geert, Cormier-Daire, Valérie, Ziegler, Alban, Wallis, Mathew, Lapunzina, Pablo, Herberg, Friedrich W., Taylor, Susan S., Ruiz-Perez, Victor L.

獲取全文 獲取全文 獲取全文