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المؤلفون: Lorena, Travaglini, Francesco, Brancati, Jennifer, Silhavy, Miriam, Iannicelli, Elizabeth, Nickerson, Nadia, Elkhartoufi, Eric, Scott, Emily, Spencer, Stacey, Gabriel, Sophie, Thomas, Bruria, Ben Zeev, Enrico, Bertini, Eugen, Boltshauser, Malika, Chaouch, Maria, Roberta Cilio, Mirjam, M. de Jong, Hulya, Kayserili, Gonul, Ogur, Andrea, Poretti, Sabrina, Signorini, Graziella, Uziel, Maha, S. Zaki, Ali Pacha, L, Zankl, A, Leventer, R, Grattan Smith, P, Janecke, A, Koch, J, Freilinger, M, D'Hooghe, M, Sznajer, Y, Vilain, C, Van Coster, R, Demerleir, L, Dias, K, Moco, C, Moreira, A, Ae Kim, C, Maegawa, G, Dakovic, I, Loncarevic, D, Mejaski Bosnjak, V, Petkovic, D, Abdel Salam GM, Abdel Aleem, A, Marti, I, Pinard, Jm, Quijano Roy, S, Sigaudy, S, de Lonlay, P, Romano, S, Verloes, A, Touraine, R, Koenig, M, Dollfus, H, Flori, E, Fradin, M, Lagier Tourenne, C, Messer, J, Collignon, P, Penzien, Jm, Bussmann, C, Merkenschlager, A, Philippi, H, Kurlemann, G, Grundmann, K, Dacou Voutetakis, C, Kitsiou Tzeli, S, Pons, R, Jerney, J, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Phadke, Sr, Girisha, Km, Doshi, H, Udani, V, Kaul, M, Stuart, B, Magee, A, Spiegel, R, Shalev, S, Mandel, H, Lev, D, Michelson, M, Idit, M, Ben Zeev, B, Gershoni Baruch, R, Ficcadenti, A, Fischetto, R, Gentile, M, Della Monica, M, Pezzani, M, Graziano, C, Seri, M, Benedicenti, F, Stanzial, F, Borgatti, R, Romaniello, R, Accorsi, P, Battaglia, S, Fazzi, E, Giordano, L, Pinelli, L, Boccone, L, Barone, R, Sorge, G, Briatore, E, Bigoni, S, Ferlini, A, Donati, Ma, Biancheri, R, Caridi, G, Divizia, Mt, Faravelli, F, Ghiggeri, G, Mirabelli, M, Pessagno, A, Rossi, A, Uliana, V, Amorini, M, Briguglio, M, Briuglia, S, Salpietro, Cd, Tortorella, G, Adami, A, Bonati, Mt, Castorina, P, D'Arrigo, S, Lalatta, F, Marra, G, Moroni, I, Pantaleoni, C, Riva, D, Scelsa, B, Spaccini, L, Del Giudice, E, Ludwig, K, Permunian, A, Suppiej, A, Macaluso, C, Pichiecchio, A, Battini, R, Di Giacomo, M, Priolo, M, Timpani, P, Pagani, G, Di Sabato ML, Emma, F, Leuzzi, V, Mancini, F, Majore, S, Micalizzi, A, Parisi, P, Romani, M, Stringini, G, Zanni, G, Ulgheri, L, Pollazzon, M, Renieri, Alessandra, Belligni, E, Grosso, E, Pieri, I, Silengo, M, Devescovi, R, Greco, D, Romano, C, Cazzagon, M, Simonati, A, Al Tawari AA, Bastaki, L, Mégarbané, A, Sabolic Avramovska, V, Said, E, Stromme, P, Koul, R, Rajab, A, Azam, M, Barbot, C, Salih, Ma, Tabarki, B, Jocic Jakubi, B, Martorell Sampol, L, Rodriguez, B, Pascual Castroviejo, I, Gener, B, Puschmann, A, Starck, L, Capone, A, Lemke, J, Fluss, J, Niedrist, D, Hennekam, Rc, Wolf, N, Gouider Khouja, N, Kraoua, I, Ceylaner, S, Teber, S, Akgul, M, Anlar, B, Comu, S, Kayserili, H, Yüksel, A, Akcakus, M, Caglayan, Ao, Aldemir, O, Al Gazali, L, Sztriha, L, Nicholl, D, Woods, Cg, Bennett, C, Hurst, J, Sheridan, E, Barnicoat, A, Hemingway, C, Lees, M, Wakeling, E, Blair, E, Bernes, S, Sanchez, H, Clark, Ae, Demarco, E, Donahue, C, Sherr, E, Hahn, J, Sanger, Td, Gallager, Te, Daugherty, C, Krishnamoorthy, Ks, Sarco, D, Walsh, Ca, Mckanna, T, Milisa, J, Chung, Wk, De Vivo DC, Raynes, H, Schubert, R, Seward, A, Brooks, Dg, Goldstein, A, Caldwell, J, Finsecke, E, Maria, Bl, Holden, K, Cruse, Rp, Karaca, E, Swoboda, Kj, Viskochil, D, Dobyns, Wb, Colin, Johnson, Tania, Attié Bitach, Joseph, G. Gleeson, Enza, Maria Valente
المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Human Genetics, Paediatrics, OMÜ, University of Zurich, Valente, Enza Maria, Fluss, Joel Victor, Travaglini, L, Brancati, F, Silhavy, J, Iannicelli, M, Nickerson, E, Elkhartoufi, N, Scott, E, Spencer, E, Gabriel, S, Thomas, S, Ben Zeev, B, Bertini, E, Boltshauser, E, Chaouch, M, Cilio, Mr, de Jong, Mm, Kayserili, H, Ogur, G, Poretti, A, Signorini, S, Uziel, G, Zaki, M, Johnson, C, Atti? Bitach, T, Gleeson, Jg, Valente, Em, International JSRD Study, Group, DEL GIUDICE, Ennio
المصدر: European Journal of Human Genetics, 21(10), 1074-1078. Nature Publishing Group
European journal of human genetics, 21(10), 1074-1078. Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics, Vol. 21, No 10 (2013) pp. 1074-8مصطلحات موضوعية: Male, Ciliata -- Anatomy, Proband, 10039 Institute of Medical Genetics, Meckel syndrome, RPGRIP1L, Syndromes, INPP5E, MODIFIER, Phosphoric Monoester Hydrolases/genetics, Ciliopathies, Polycystic Kidney Diseases/diagnosis/genetics, CILIUM, 0302 clinical medicine, Gene Frequency, Cerebellum, Prenatal Diagnosis, RETINAL DEGENERATION, Prevalence, MECKEL, ciliopathies, Joubert syndrome and related disorders, Eye Abnormalities, Child, Genetics (clinical), Encephalocele, Joubert syndrome, Genetics, Polycystic Kidney Diseases, 0303 health sciences, ddc:618, Cerebellar Diseases/diagnosis/genetics, Kidney Diseases, Cystic, Pedigree, 3. Good health, Phenotype, Child, Preschool, Medical genetics, Female, Retinitis Pigmentosa, FORM, Ciliary Motility Disorders, Heterozygote, medicine.medical_specialty, 2716 Genetics (clinical), Adolescent, Molecular Sequence Data, Encephalocele/diagnosis/genetics, AHI1, 610 Medicine & health, Biology, Retina, Article, Ciliopathies, INPP5E, Joubert syndrome and related disorders, Meckel syndrome, NO, Ciliary Motility Disorders/diagnosis/genetics, 03 medical and health sciences, 1311 Genetics, Cerebellar Diseases, REVEALS, medicine, Humans, Abnormalities, Multiple, Amino Acid Sequence, Kidney Diseases, Cystic/diagnosis/genetics, abnormalities, multiple, adolescent, amino acid sequence, cerebellar diseases, cerebellum, child, preschool, ciliary motility disorders, encephalocele, eye abnormalities, female, heterozygote, humans, infant, kidney diseases, cystic, male, molecular sequence data, pedigree, phosphoric monoester hydrolases, polycystic kidney diseases, prenatal diagnosis, prevalence, retina, gene frequency, mutation, phenotype, 030304 developmental biology, Eye Abnormalities/diagnosis/genetics, COACH SYNDROME, Retina/abnormalities, Genetic heterogeneity, Respiration disorders -- Therapy, Infant, medicine.disease, Phosphoric Monoester Hydrolases, INPP5E mutation, 10036 Medical Clinic, Mutation, 030217 neurology & neurosurgery
وصف الملف: TravagliniL,_2013.pdf - application/pdf
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المؤلفون: Dundar, M, Müderris, İİ, Saatci, C, TAŞDEMİR, Şener, Taşcıoğlu, Nazife, KİRAZ, A, Caglayan, AO, ÖZKUL, Yusuf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______9447::09942c88a2af64215bd014900f031249
https://avesis.erciyes.edu.tr/publication/details/ade719e6-d932-429f-a3f1-c6ca1cb4f5e2/oai -
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المؤلفون: TAŞDEMİR, Şener, Saatci, C, Dundar, M, Caglayan, AO, KİRAZ, A, Müderris, İİ, Öner, G, ÖZKUL, Yusuf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______9447::c0c82f3c690fe64b4dbf561be2e0adee
https://avesis.erciyes.edu.tr/publication/details/c31ac138-1f0d-488d-ac08-c812d5f257e5/oai -
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المؤلفون: ÖZKUL, Yusuf, TAŞDEMİR, Şener, Müderris, İİ, Saatci, C, KİRAZ, A, Caglayan, AO, Öner, G, Dundar, M
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______9447::33ebe77195cd1de15c3b1869720269ed
https://avesis.erciyes.edu.tr/publication/details/067428ca-83ac-42b6-92e6-aa5b6f410996/oai -
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المؤلفون: Kalb, S, Caglayan, AO, Degerliyurt, A, Schmid, S, Ceylaner, S, Hatipoglu, N, Hinderhofer, K, Rehder, H, Kurtoglu, S, Ceylaner, G, Zschocke, J, Witsch-Baumgartner, M
المصدر: Clinical Genetics; Jun2012, Vol. 81 Issue 6, p598-601, 4p, 1 Color Photograph, 1 Chart
مصطلحات موضوعية: LETTERS to the editor, GENETIC mutation, SYNDROMES, PATIENTS
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المؤلفون: Caglayan AO, Koklu E, Saatci C, Gunes T, Ozkul Y, Narin N, Baykan A, Dundar M, Buyukkayhan D, Caglayan, Ahmed Okay, Koklu, Esad, Saatci, Cetin, Gunes, Tamer, Ozkul, Yusuf, Narin, Nazmi, Baykan, Ali, Dundar, Munis, Buyukkayhan, Derya
المصدر: Annals of Saudi Medicine; May-Jun2008, Vol. 28 Issue 3, p209-212, 4p
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المؤلفون: Caglayan, AO, Per, H, Akgumus, G, Gumus, H, Baranoski, J, Canpolat, M, Calik, M, Yikilmaz, A, Bilguvar, K, Kumandas, S, Gunel, M
المصدر: Clinical Genetics; Oct2013, Vol. 84 Issue 4, p394-395, 2p, 1 Diagram
مصطلحات موضوعية: MEMBRANE proteins, GENETIC mutation, BOYS, DISEASES
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المؤلفون: Per, H, Caglayan, AO, Canpolat, M, Bilguvar, K, Gümüş, H, Kumandas, S
المصدر: European Journal of Paediatric Neurology; Sep2013 Supplement, Vol. 17, pS63-S63, 1p