المؤلفون: Cullinane, Andrew R., Straatman, Anna Iwanowska, Seo, Jeong K., Ko, Jae S., Song, Kyung S., Gizewska, Maria, Gruszfeld, Dariusz, Gliwicz, Dorota, Tüysüz, Beyhan, Sougrat, Rachid, Wakabayashi, Yoshiyuki, Hinds, Rupert, Barnicoat, Angela, Mandel, Hanna, Chitayat, David, Fischler, Bjorn, Garcia, Angels Cazorla, Knisely, A. S., Kelly, Deirdre A., Maher, Eamonn R., Gissen, Paul

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk Gastroenteroloji Hepatoloji ve Beslenme Bilim Dalı., orcid:0000-0002-9726-8219, Erdemir, Gülin, 36015044400

مصطلحات موضوعية: Arthrogryposis, Renal tubular dysfunction, Neonatal cholestasis, ARC, Vesicular trafficking defect, Renal dysfunction, Cholestasis, Vps33b, Mutation, Genetics & heredity, Child, preschool, Fibroblasts, Humans, Infant, Kidney diseases, Male, Syndrome, Vesicular transport proteins, Gray Platelet Syndrome, Megakaryocytes, Blood Platelets, Vesicular transport protein, VPS33B protein, Human, Article, Case report, Ethnology, Fibroblast, Genetics

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; Human Mutation; Yurt içi; Yurt dışı; Cullinane, A. R. vd. (2009). "Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome". Human Mutation, 30(2), E330-E337.; https://doi.org/10.1002/humu.20900Test; http://hdl.handle.net/11452/26358Test; 000279979200003; 2-s2.0-64049109733; E330; E337; 30

الإتاحة: https://doi.org/10.1002/humu.20900Test
http://hdl.handle.net/11452/26358Test

المؤلفون: Yoshiyuki Wakabayashi, Rupert Hinds, A.S. Knisely, Dorota Gliwicz, Björn Fischler, David Chitayat, Maria Gizewska, Eamonn R. Maher, Andrew R. Cullinane, Rachid Sougrat, Angela Barnicoat, Gulin Erdemir, Paul Gissen, Angels García-Cazorla, Deirdre Kelly, Kyung S. Song, Hanna Mandel, Beyhan Tüysüz, Jae Sung Ko, Jeong K. Seo, Dariusz Gruszfeld, Anna Straatman-Iwanowska

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk Gastroenteroloji Hepatoloji ve Beslenme Bilim Dalı., Erdemir, Gülin

مصطلحات موضوعية: Male, medicine.medical_specialty, Child, preschool, Biology, medicine.disease_cause, Gastroenterology, Germline, Article, Germline mutation, Cholestasis, Renal tubular dysfunction, Internal medicine, Case report, medicine, Vesicular transport protein, Genetics, Humans, Neonatal cholestasis, Genetics (clinical), Arthrogryposis, Mutation, Arc (protein), Kidney diseases, Vps33b, Vesicular transport proteins, Genetics & heredity, Infant, Syndrome, Fibroblasts, Kidney disease, medicine.disease, ARC, Metabolism, Preschool child, Ultrastructure, Vesicular trafficking defect, Renal dysfunction, Gray Platelet Syndrome, Megakaryocytes, Blood Platelets, Fibroblast, medicine.symptom, VPS33B protein, Human, Ethnology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df432342aef97506bc12227ad01ffb28Test
http://hdl.handle.net/11452/26358Test

المؤلفون: S. Halldorsson, Elliott H. Sherr, Susana Quijano-Roy, Gaetano Tortorella, Marc D'Hooghe, M. M. De Jong, J. Caldwell, Gian M. Ghiggeri, Josseline Kaplan, Christopher P. Bennett, S. Comu, Vincenzo Leuzzi, Anna Rajab, Mary Kay Koenig, Serap Teber, Barbara Scelsa, G. Marra, S. Kitsiou Tzeli, D. Petkovic, Alex E. Clark, Bruno Dallapiccola, P. Collignon, V. Sabolic Avramovska, Richard J. Leventer, Robert P. Cruse, Sabrina Signorini, Raoul C.M. Hennekam, Nicole I. Wolf, A. M. Laverda, Brunella Mancuso, Clotilde Lagier-Tourenne, Kathrin Ludwig, C. Moco, Ender Karaca, Amy Goldstein, Stefania Bigoni, L. I. Al Gazali, Laila Bastaki, Jean Messer, E. Del Giudice, M. Cazzagon, A. Permunian, C. Ae Kim, Edward Blair, M. Di Giacomo, E. DeMarco, Melissa Lees, Renato Borgatti, Marilena Briguglio, H. Raynes, Renaud Touraine, Andreas Zankl, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, S. Romano, Isabelle Perrault, Jane A. Hurst, Eamonn Sheridan, Kenton R. Holden, T. E. Gallager, P. De Lonlay, M. L. Di Sabato, Marina Michelson, Hülya Kayserili, Terry D. Sanger, Heike Philippi, Patrizia Accorsi, M. Silengo, Miriam Iannicelli, Lorena Travaglini, K. Dias, Gianluca Caridi, Loredana Boccone, J. Johannsdottir, R. De Vescovi, P. Ludvigsson, J. Hahn, Tania Attié-Bitach, Franco Stanzial, Silvia Battaglia, Francesco Brancati, Ghada M. H. Abdel-Salam, William B Dobyns, Enrico Bertini, Daria Riva, F. Benedicenti, Joseph G. Gleeson, Ryan D. Schubert, Roshan Koul, Kalpathy S. Krishnamoorthy, Luigina Spaccini, G. Uziel, Jean-Michel Rozet, M.A. Donati, Marzia Pollazzon, Sophie Audollent, Matloob Azam, Alex Magee, A. Adami, Ignacio Pascual-Castroviejo, Bernard Stuart, Rita Fischetto, Darryl C. De Vivo, Christopher A. Walsh, Asma A. Al-Tawari, Carla Uggetti, Alessandra Ferlini, Atıl Yüksel, Enza Maria Valente, Agnese Suppiej, Faustina Lalatta, Lucio Giordano, Maria Roberta Cilio, Bernard L. Maria, Trudy McKanna, S. Sigaudy, L. Demerleir, Carmelo Salpietro, Henry Sanchez, Bruria Ben-Zeev, A. Pessagno, Elisa Fazzi, J. Milisa, Shubha R. Phadke, D. Greco, Dominika Swistun, Yves Sznajer, B. Rodriguez, Silvana Briuglia, V. Udani, Francesca Faravelli, Maha S. Zaki, S. Bernes, Maria Teresa Divizia, C. Daugherty, David G. Brooks, Clara Barbot, László Sztriha, C. Donahue, Wendy K. Chung, Dean Sarco, Pierangela Castorina, Petter Strømme, Pasquale Parisi, Andreas R. Janecke, Roberta Battini, L. Martorell Sampol, M. Akcakus, Angela Barnicoat, Jerlyn C Tolentino, Dorit Lev, A. Seward, Banu Anlar, Corrado Romano, D. Nicholl, A. Moreira, Alice Abdel-Aleem, Padraic Grattan-Smith, C. G. Woods, Gustavo Maegawa, Alessandro Simonati, Kathryn J. Swoboda, David Viskochil, Luciana Rigoli, R. Van Coster, André Mégarbané

المساهمون: Pediatric surgery, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatric Genetics, Travaglini, L., Brancati, F., Attie Bitach, T., Audollent, S., Bertini, E., Kaplan, J., Perrault, I., Iannicelli, M., Mancuso, B., Rigoli, L., Rozet, J. M., Swistun, D., Tolentino, J., Dallapiccola, B., Gleeson, J. G., Valente, E. M., The International JSRD Study, Group, DEL GIUDICE, Ennio

المصدر: American Journal of Medical Genetics, Part A, 149(10), 2173-2180. Wiley-Liss Inc.
American journal of medical genetics. Part A, 149A(10), 2173-2180. Wiley-Liss Inc.
International JSRD Study Group 2009, ' Expanding CEP290 mutational spectrumin ciliopathies ', American Journal of Medical Genetics, Part A, vol. 149, no. 10, pp. 2173-2180 . https://doi.org/10.1002/ajmg.a.33025Test

مصطلحات موضوعية: genetic structures, DNA Mutational Analysis, Cell Cycle Proteins, Biology, Ciliopathies, cep290, Article, Joubert syndrome, meckel syndrome, 03 medical and health sciences, Exon, Fetus, 0302 clinical medicine, Bardet–Biedl syndrome, Joubert syndrome and related disorders, Meckel syndrome, CEP290, genomic rearrangement, Antigens, Neoplasm, Nephronophthisis, Genetics, medicine, joubert syndrome and related disorders, Humans, Abnormalities, Multiple, ciliopathy, Cilia, Genetic Testing, RNA, Messenger, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Base Sequence, Genomic rearrangement, Syndrome, medicine.disease, eye diseases, Neoplasm Proteins, Cytoskeletal Proteins, RPGRIP1L, Female, sense organs, Gene Deletion, 030217 neurology & neurosurgery

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f64afa39636eb3bd0d703cd79fea0af0Test
https://doi.org/10.1002/ajmg.a.33025Test