نتائج البحث - Talim, Beril

LARGE expression in different types of muscular dystrophies other than dystroglycanopathy حسب Balci-Hayta, Burcu, Talim, Beril, Kale, Gulsev, Dincer, Pervin

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Histological response to injected gluteraldehyde cross-linked bovine collagen based implant in a rat model حسب Alkan, Murat, Talim, Beril, Ciftci, Arbay O, Şenocak, Mehmet E, Cağlar, Melda, Büyükpamukçu, Nebil

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Milk of calcium: A rare manifestation of juvenile dermatomyositis حسب YILDIRIM, Deniz Gezgin, AKDULUM, İsmail, TALİM, Beril, DEMİR, Ercan, BUYAN, Necla, BAKKALOĞLU, Sevcan A.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Giant Omental Cyst (Lymphangioma) Mimicking Ascites and Tuberculosis حسب Karhan, Asuman Nur, Soyer, Tutku, Gunes, Altan, Talim, Beril, Karnak, Ibrahim, Oguz, Berna, Saltik Temizel, Inci Nur

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy حسب Gundesli, Hulya, Talim, Beril, Korkusuz, Petek, Balci-Hayta, Burcu, Cirak, Sebahattin, Akarsu, Nurten A., Topaloglu, Haluk, Dincer, Pervin

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement حسب Ceyhan-Birsoy, Ozge, Talim, Beril, Swanson, Lindsay C., Karakaya, Mert, Graff, Michelle A., Beggs, Alan H., Topaloglu, Haluk

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy حسب Aksu-Menges, Evrim, Eylem, Cemil Can, Nemutlu, Emirhan, Gizer, Merve, Korkusuz, Petek, Topaloglu, Haluk, Talim, Beril, Balci-Hayta, Burcu

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Determination of the Presence of Diphtheria Toxin in the Myocardial Tissue of Rabbits and a Female Subject by Using an Immunofluorescent Antibody Method حسب Ceyhan, Mehmet, Ozsurekci, Yasemin, Aydin, Merve M., Akcali, Kamil Can, Talim, Beril, Celik, Melda, Karadag Oncel, Eda, Gurbuz, Venhar, Aycan, Ahmet Emre, Onbasilar, Ilyas, Buzgan, Turan

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium flux حسب Kayman Kürekçi, Gülsüm, Kural Mangit, Ecem, Koyunlar, Cansu, Unsal, Seyda, Saglam, Berk, Ergin, Bora, Gizer, Merve, Uyanik, Ismail, Boustanabadimaralan Düz, Niloufar, Korkusuz, Petek, Talim, Beril, Purali, Nuhan, Hughes, Simon M., Dincer, Pervin R.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene حسب Gempel, Klaus, Topaloglu, Haluk, Talim, Beril, Schneiderat, Peter, Schoser, Benedikt G. H., Hans, Volkmar H., Pálmafy, Beatrix, Kale, Gulsev, Tokatli, Aysegul, Quinzii, Catarina, Hirano, Michio, Naini, Ali, DiMauro, Salvatore, Prokisch, Holger, Lochmüller, Hanns, Horvath, Rita

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit حسب Hoffmann, Katrin, Müller, Juliane S., Stricker, Sigmar, Megarbane, Andre, Rajab, Anna, Lindner, Tom H., Cohen, Monika, Chouery, Eliane, Adaimy, Lynn, Ghanem, Ismat, Delague, Valerie, Boltshauser, Eugen, Talim, Beril, Horvath, Rita, Robinson, Peter N., Lochmüller, Hanns, Hübner, Christoph, Mundlos, Stefan

احصل على النص الكامل احصل على النص الكامل

SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy حسب Agrawal, Pankaj B., Pierson, Christopher R., Joshi, Mugdha, Liu, Xiaoli, Ravenscroft, Gianina, Moghadaszadeh, Behzad, Talabere, Tiffany, Viola, Marissa, Swanson, Lindsay C., Haliloğlu, Göknur, Talim, Beril, Yau, Kyle S., Allcock, Richard J.N., Laing, Nigel G., Perrella, Mark A., Beggs, Alan H.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

A Comparative Study of α‐Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α‐Dystroglycan Does Not Consistently Correlate with Clinical Seve... حسب Jimenez‐Mallebrera, Cecilia, Torelli, Silvia, Feng, Lucy, Kim, Jihee, Godfrey, Caroline, Clement, Emma, Mein, Rachael, Abbs, Stephen, Brown, Susan C., Campbell, Kevin P., Kröger, Stephan, Talim, Beril, Topaloglu, Haluk, Quinlivan, Ros, Roper, Helen, Childs, Anne M., Kinali, Maria, Sewry, Caroline A., Muntoni, Francesco

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy حسب Hara, Yuji, Balci-Hayta, Burcu, Yoshida-Moriguchi, Takako, Kanagawa, Motoi, de Bernabé, Daniel Beltrán-Valero, Gündeşli, Hülya, Willer, Tobias, Satz, Jakob S., Crawford, Robert W., Burden, Steven J., Kunz, Stefan, Oldstone, Michael B.A., Accardi, Alessio, Talim, Beril, Muntoni, Francesco, Topaloğlu, Haluk, Dinçer, Pervin, Campbell, Kevin P.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Bi-allelic mutations in MYL1 cause a severe congenital myopathy حسب Ravenscroft, Gianina, Zaharieva, Irina T, Bortolotti, Carlo A, Lambrughi, Matteo, Pignataro, Marcello, Borsari, Marco, Sewry, Caroline A, Phadke, Rahul, Haliloglu, Goknur, Ong, Royston, Goullée, Hayley, Whyte, Tamieka, Consortium, UK10K, Manzur, Adnan, Talim, Beril, Kaya, Ulkuhan, Osborn, Daniel P S, Forrest, Alistair R R, Laing, Nigel G, Muntoni, Francesco

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis حسب Mitsuhashi, Satomi, Ohkuma, Aya, Talim, Beril, Karahashi, Minako, Koumura, Tomoko, Aoyama, Chieko, Kurihara, Mana, Quinlivan, Ros, Sewry, Caroline, Mitsuhashi, Hiroaki, Goto, Kanako, Koksal, Burcu, Kale, Gulsev, Ikeda, Kazutaka, Taguchi, Ryo, Noguchi, Satoru, Hayashi, Yukiko K., Nonaka, Ikuya, Sher, Roger B., Sugimoto, Hiroyuki, Nakagawa, Yasuhito, Cox, Gregory A., Topaloglu, Haluk, Nishino, Ichizo

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency حسب Kemp, John P., Smith, Paul M., Pyle, Angela, Neeve, Vivienne C. M., Tuppen, Helen A. L., Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Lochmüller, Hanns, McFarland, Robert, Chinnery, Patrick F., Chrzanowska-Lightowlers, Zofia M.A., Lightowlers, Robert N., Taylor, Robert W., Horvath, Rita

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease حسب Chauveau, Claire, Bonnemann, Carsten G., Julien, Cedric, Kho, Ay Lin, Marks, Harold, Talim, Beril, Maury, Philippe, Arne-Bes, Marie Christine, Uro-Coste, Emmanuelle, Alexandrovich, Alexander, Vihola, Anna, Schafer, Sebastian, Kaufmann, Beth, Medne, Livija, Hübner, Norbert, Foley, A. Reghan, Santi, Mariarita, Udd, Bjarne, Topaloglu, Haluk, Moore, Steven A., Gotthardt, Michael, Samuels, Mark E., Gautel, Mathias, Ferreiro, Ana

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Use of whole exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiency حسب Taylor, Robert W., Pyle, Angela, Griffin, Helen, Blakely, Emma L., Duff, Jennifer, He, Langping, Smertenko, Tania, Alston, Charlotte L., Neeve, Vivienne C., Best, Andrew, Yarham, John W., Kirschner, Janbernd, Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Baric, Ivo, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Kleinle, Stephanie, Morris, Andrew A.M., Vassallo, Grace, Gorman, Grainne S., Ramesh, Venkateswaran, Turnbull, Douglass M., Santibanez-Koref, Mauro, McFarland, Robert, Horvath, Rita, Chinnery, Patrick F.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency حسب Olsen, Rikke K.J., Koňaříková, Eliška, Giancaspero, Teresa A., Mosegaard, Signe, Boczonadi, Veronika, Mataković, Lavinija, Veauville-Merllié, Alice, Terrile, Caterina, Schwarzmayr, Thomas, Haack, Tobias B., Auranen, Mari, Leone, Piero, Galluccio, Michele, Imbard, Apolline, Gutierrez-Rios, Purificacion, Palmfeldt, Johan, Graf, Elisabeth, Vianey-Saban, Christine, Oppenheim, Marcus, Schiff, Manuel, Pichard, Samia, Rigal, Odile, Pyle, Angela, Chinnery, Patrick F., Konstantopoulou, Vassiliki, Möslinger, Dorothea, Feichtinger, René G., Talim, Beril, Topaloglu, Haluk, Coskun, Turgay, Gucer, Safak, Botta, Annalisa, Pegoraro, Elena, Malena, Adriana, Vergani, Lodovica, Mazzà, Daniela, Zollino, Marcella, Ghezzi, Daniele, Acquaviva, Cecile, Tyni, Tiina, Boneh, Avihu, Meitinger, Thomas, Strom, Tim M., Gregersen, Niels, Mayr, Johannes A., Horvath, Rita, Barile, Maria, Prokisch, Holger

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل