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المؤلفون: Elizabeth M. Mcnally, David Duggan, J. Rafael Gorospe, Carsten G. Bönnemann, Marina Fanin, Elena Pegoraro, Hart G. W. Lidov, Satoru Noguchi, Eijiro Ozawa, Richard S. Finkel, Robert P. Cruse, Corrado Angelini, Louis M. Kunkel, Eric P. Hoffman
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.326.505; http://hmg.oxfordjournals.org/content/5/11/1841.full.pdf
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المؤلفون: S. Kitsiou Tzeli, Hülya Kayserili, L. Giordano, B. Rodriguez, P. Collignon, V. Sabolic Avramovska, Silvana Briuglia, Christopher A. Walsh, Laila Bastaki, Amy Goldstein, Francesca Faravelli, F. Papadia, A. Permunian, Alessandro Simonati, S. Halldorsson, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Kathryn J. Swoboda, Chiara Pantaleoni, O. D'Addato, Jason W. Caldwell, Maria Roberta Cilio, Soumaya Mougou-Zerelli, M. Vascotto, Andreas Zankl, Gaetano Tortorella, Julia Tantau, Elliott H. Sherr, Patrizia Accorsi, Maurizio Genuardi, Carmelo Salpietro, G. Marra, Pierangela Castorina, Petter Strømme, J. Johannsdottir, Bruno Dallapiccola, Kenton R. Holden, Donatella Greco, Maria Spanò, Pasquale Parisi, Roberta Battini, Paola Grammatico, P. Ludvigsson, Dorit Lev, Daria Riva, C. Ae Kim, WB Dobyns, L. Martorell Sampol, Robert P. Cruse, H. Raynes, Sabrina Signorini, A. Seward, Raoul C.M. Hennekam, Elena Andreucci, Manuela Priolo, Banu Anlar, Bernard Stuart, Christopher P. Bennett, S. Comu, Christopher Geoffrey Woods, Vlatka Mejaški-Bošnjak, J. Milisa, Eamonn Sheridan, Melissa Lees, C. Moco, Ender Karaca, Miriam Iannicelli, Annalisa Mazzotta, C. Dacou-Voutetakis, Tania Attié-Bitach, Philippe Loget, D. Petkovic, L. Demerleir, Loredana Boccone, Meriem Tazir, Kalpathy S. Krishnamoorthy, Damir Lončarević, Dominika Swistun, Yves Sznajer, Stefano D'Arrigo, Ginevra Zanni, Angela Barnicoat, Marina Michelson, L. I. Al Gazali, Vincenzo Leuzzi, G. Uziel, A. Adami, B. Gener Querol, V. Udani, M. Di Giacomo, Maryse Bonnière, Enrico Bertini, K. Dias, Edward Blair, Johannes M. Penzien, M. Cazzagon, Susana Quijano-Roy, Trine Prescott, Barbara Scelsa, Giuseppina Vitiello, Francesco Brancati, Gilda Stringini, Trudy McKanna, Roser Pons, Renato Borgatti, M. Gentile, Dean Sarco, C. Von Der Lippe, Eugen Boltshauser, Luigina Spaccini, A. Pessagno, Alex Magee, Marilena Briguglio, Margherita Silengo, Lena Starck, M. L. Di Sabato, Roshan Koul, Nicole I. Wolf, A. M. Laverda, Elizabeth Flori, Clotilde Lagier-Tourenne, A. Matuleviciene, Matloob Azam, Kathrin Ludwig, Ghada M H Abdel-Salam, Atıl Yüksel, Johannes R. Lemke, Stefania Bigoni, Elizabeth Said, Anna Rajab, Mary Kay Koenig, Andreas R. Janecke, Asma A. Al-Tawari, Agnese Suppiej, Henry Sanchez, Wendy K. Chung, P. Guanciali, Heike Philippi, Silvia Majore, E. DeMarco, J. Hahn, Gianluca Caridi, Marc D'Hooghe, M. M. De Jong, M. Akcakus, Franco Stanzial, Silvia Battaglia, Gian Luigi Ardissino, Giangennaro Coppola, Jane A. Hurst, Terry D. Sanger, Alessandra Renieri, Nadia Elkhartoufi, Rita Fischetto, Alex E. Clark, S. Strozzi, S. Romano, Alain Verloes, Marzia Pollazzon, Elisa Fazzi, L. Yates, Faustina Lalatta, Sabine Sigaudy, Alessandra D'Amico, Brigitte Leroy, Joel Victor Fluss, David Viskochil, Alice Abdel-Aleem, Darryl C. De Vivo, Padraic Grattan-Smith, Corrado Romano, D. Nicholl, Regine Schubert, A. Moreira, Claudia Izzi, Barbara Gentilin, Gustavo Maegawa, Céline Gomes, László Sztriha, C. Donahue, Luciana Rigoli, Jean Messer, Sophie Thomas, E. Del Giudice, R. Van Coster, André Mégarbané, Ignacio Pascual-Castroviejo, Alessandra Ferlini, Topcu, R. Touraine, Ginevra Guanti, Lorena Travaglini, L. Ali Pacha, R. De Vescovi, Enza Maria Valente, Filippo Bernardi, L. Carr, Shubha R. Phadke, S. Bernes, Maria Teresa Divizia, C. Daugherty, M. Akgul, C. Macaluso, Maha S. Zaki, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, F. McKay, Maria Amorini, Joseph G. Gleeson, F. Benedicenti, Bruria Ben-Zeev, Carla Uggetti, R. Romoli, Richard J. Leventer, Francesco Emma, T. E. Gallager, P. De Lonlay, Marco Seri, Bernard L. Maria, M.A. Donati, Bosanka Jocic-Jakubi
المساهمون: IANNICELLI M, BRANCATI F, MOUGOU-ZERELLI S, MAZZOTTA A, THOMAS S, ELKHARTOUFI N, TRAVAGLINI L, GOMES C, ARDISSINO GL, BERTINI E, BOLTSHAUSER E, CASTORINA P, D'ARRIGO S, FISCHETTO R, LEROY B, LOGET P, BONNIÈRE M, STARCK L, TANTAU J, GENTILIN B, MAJORE S, SWISTUN D, FLORI E, LALATTA F, PANTALEONI C, PENZIEN J, GRAMMATICO P, INTERNATIONAL JSRD STUDY GROUP, DALLAPICCOLA B, GLEESON JG, ATTIE-BITACH T, VALENTE EM. COLLABORATORS: ALI PACHA L, TAZIR M, ZANKL A, LEVENTER R, GRATTAN-SMITH P, JANECKE A, D'HOOGHE M, SZNAJER Y, VAN COSTER R, DEMERLEIR L, DIAS K, MOCO C, MOREIRA A, AE KIM C, MAEGAWA G, LONCAREVIC D, MEJASKI-BOSNJAK V, PETKOVIC D, ABDEL-SALAM GM, ABDEL-ALEEM A, ZAKI MS, MARTI I, QUIJANO-ROY S, SIGAUDY S, DE LONLAY P, ROMANO S, VERLOES A, TOURAINE R, KOENIG M, LAGIER-TOURENNE C, MESSER J, COLLIGNON P, WOLF N, PHILIPPI H, LEMKE J, DACOU-VOUTETAKIS C, KITSIOU TZELI S, PONS R, SZTRIHA L, HALLDORSSON S, JOHANNSDOTTIR J, LUDVIGSSON P, PHADKE SR, UDANI V, STUART B, MAGEE A, LEV D, MICHELSON M, BEN-ZEEV B, DI GIACOMO M, GENTILE M, GUANTI G, D'ADDATO O, PAPADIA F, SPANO M, BERNARDI F, SERI M, BENEDICENTI F, STANZIAL F, BORGATTI R, ACCORSI P, BATTAGLIA S, FAZZI E, GIORDANO L, IZZI C, PINELLI L, BOCCONE L, GUANCIALI P, ROMOLI R, BIGONI S, FERLINI A, ANDREUCCI E, DONATI MA, GENUARDI M, CARIDI G, DIVIZIA MT, FARAVELLI F, GHIGGERI G, PESSAGNO, AMORINI M, BRIGUGLIO M, BRIUGLIA S, RIGOLI L, SALPIETRO C, TORTORELLA G, ADAMI A, MARRA G, RIVA D, SCELSA B, SPACCINI L, UZIEL G, COPPOLA G, DEL GIUDICE E, VITIELLO G, LAVERDA AM, LUDWIG K, PERMUNIAN A, SUPPIEJ A, MACALUSO C, SIGNORINI S, UGGETTI C, BATTINI R, PRIOLO M, CILIO MR, D'AMICO A, DI SABATO ML, EMMA F, LEUZZI V, PARISI P, STRINGINI G, ZANNI G, POLLAZZON M, RENIERI A, VASCOTTO M, SILENGO M, DE VESCOVI R, GRECO D, ROMANO C, CAZZAGON M, SIMONATI A, AL-TAWARI AA, BASTAKI L, MÉGARBANÉ A, MATULEVICIENE A, SABOLIC AVRAMOVSKA V, SAID E, DE JONG MM, PRESCOTT T, STROMME P, VON DER LIPPE C, KOUL R, RAJAB A, AZAM M, BARBOT C, JOCIC-JAKUBI B, GENER QUEROL B, MARTORELL SAMPOL L, RODRIGUEZ B, PASCUAL-CASTROVIEJO I, STROZZI S, FLUSS J, TEBER S, TOPCU M, ANLAR B, COMU S, KARACA E, KAYSERILI H, YÜKSEL A, AKGUL M, AKCAKUS M, AL GAZALI L, NICHOLL D, WOODS CG, BENNETT C, HURST J, SHERIDAN E, BARNICOAT A, CARR L, HENNEKAM R, LEES M, MCKAY F, YATES L, BLAIR E, BERNES S, SANCHEZ H, CLARK AE, DEMARCO E, DONAHUE C, SHERR E, HAHN J, SANGER TD, GALLAGER TE, DOBYNS WB, DAUGHERTY C, KRISHNAMOORTHY KS, SARCO D, WALSH CA, MCKANNA T, MILISA J, CJUNG WK, DE VIVO DC, RAYNES H, SCHUBERT R, SEWARD A, BROOKS DG, GOLDSTEIN A, CALDWELL J, FINSECKE E, MARIA BL, HOLDEN K, CRUSE RP, SWOBODA KJ, VISKOCHIL D., Pediatric surgery, NCA - Childhood White Matter Diseases, Iannicelli, M, Brancati, F, Mougou Zerelli, S, Mazzotta, A, Thomas, S, Elkhartoufi, N, Travaglini, L, Gomes, C, Ardissino, Gl, Bertini, E, Boltshauser, E, Castorina, P, D'Arrigo, S, Fischetto, R, Leroy, B, Loget, P, Bonnière, M, Starck, L, Tantau, J, Gentilin, B, Majore, S, Swistun, D, Flori, E, Lalatta, F, Pantaleoni, C, Penzien, J, Grammatico, P, Dallapiccola, B, Gleeson, Jg, Attie Bitach, T, Valente, Em, International JSRD Study, Group, DEL GIUDICE, Ennio, University of Zurich, Attie-Bitach, T
المصدر: International JSRD Study Group 2010, ' Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies ', Human Mutation, vol. 31, no. 5, pp. E1319-E1331 . https://doi.org/10.1002/humu.21239
Human Mutation, 31(5), E1319-E1331. Wiley-Liss Inc.مصطلحات موضوعية: Liver Cirrhosis, 2716 Genetics (clinical), meckelin, Ciliopathies, Joubert syndrome, Genotype, congenital hepatic fibrosis, coach syndrome, mks3, meckel syndrome, joubert syndrome, tmem67, TMEM67, Meckel syndrome, DNA Mutational Analysis, 610 Medicine & health, Biology, medicine.disease_cause, MKS3, COACH syndrome, Article, NO, 1311 Genetics, Nephronophthisis, Pregnancy, Prenatal Diagnosis, Genetics, medicine, COACH syndrome, Congenital hepatic fibrosis, Joubert syndrome, Meckel syndrome, MKS3, TMEM67, Missense mutation, Humans, Abnormalities, Multiple, Genetics (clinical), Mutation, Cilium, Membrane Proteins, Kidney Diseases, Cystic, medicine.disease, Phenotype, 10036 Medical Clinic, Female
وصف الملف: ELETTRONICO; IannicelliM,_2010.pdf - application/pdf
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المؤلفون: Monte A. Del Monte, Berendina De Vries, Arnold London, Wai-Man Chan, Emin Cumhur Sener, Anat Loewenstein, Joseph L. Demer, Elizabeth C. Engle, Nakamichi Saito, Robert P. Cruse, Michael C. Brodsky, A. Nurten Akarsu, Roger H. Johnson, Mark S. Ruttum, Alina A. Zubcov, Alex V. Levin, Naomichi Matsumoto, Blaine L. Hart, Teresa de Berardinis, Lionel Kowal, Ravi Battu, Marlene C. Vogel, Michael O'Keefe, Thomas J. Carlow, Frank Hanisch, Banu T. Öztürk, Caroline Andrews, Robert D. Letson, Moshe Lazar, Eiichiro Uyama, Craig A. McKeown, James A. Katowitz, Scott M. Goldstein, Piergiorgio Franceschini, Richard M. Robb, Lisa Morris, Adriano Magli, Koki Yamada, Peter Roggenkäemper, Nicolas Krawiecki, Willem A. Houtman, John M. Shoffner, Anna Newlin, Elias I. Traboulsi, Irene Gottlob
المساهمون: Yamada, K, Andrews, C, Chan, Wm, Mckeown, Ca, Magli, A, DE BERARDINIS, Teresa, Loewenstein, A, Lazar, M, O'Keefe, M, Letson, R, London, A, Ruttum, M, Matsumoto, N, Saito, N, Morris, L, DEL MONTE, M, Johnson, Rh, Uyama, E, Houtman, Wa, DE VRIES, B, Carlow, Tj, Hart, Bl, Krawiecki, N, Shoffner, J, Vogel, Mc, Katowitz, J, Goldstein, Sm, Levin, Av, Sener, Ec, Ozturk, Bt, Akarsu, An, Brodsky, Mc, Hanisch, F, Cruse, Rp, Zubcov, Aa, Robb, Rm, Roggenkaemper, P, Gottlob, I, Kowal, L, Battu, R, Traboulsi, Ei, Franceschini, P, Newlin, A, Demer, Jl, Engle, E. C.
المصدر: Nature Genetics, 35(4), 318-321. Nature Publishing Group
مصطلحات موضوعية: Proband, Male, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, Genetic Linkage, Molecular Sequence Data, Kinesins, Nerve Tissue Proteins, Biology, REGION, Motor protein, Mutational hotspot, Congenital fibrosis of the extraocular muscles, MAPS, Genetics, medicine, Missense mutation, Humans, Amino Acid Sequence, Strabismus, Child, Ophthalmoplegia, Sequence Homology, Amino Acid, CHROMOSOME-12, REFINEMENT, Oculomotor nerve, Genetic Variation, EXTERNAL OPHTHALMOPLEGIA, medicine.disease, Fibrosis, eye diseases, Pedigree, Phenotype, Oculomotor Muscles, Mutation, Kinesin, Female
وصف الملف: STAMPA
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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.33025مصطلحات 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
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المؤلفون: Pascale de Lonlay, Ana Moreira, Clement Donahue, Graziella Uziel, Karin Dias, Silvana Briuglia, Saevar Halldorsson, Francesca Faravelli, William B. Dobyns, Bernard Stuart, Berta Rodriguez, Alberto Permunian, Laila Bastaki, Enrico Bertini, Lihadh Al Gazali, Michel Koenig, Richard J. Leventer, Saunder Bernes, Hillary Raynes, Bruno Dallapiccola, Chong Ae Kim, Jean Messer, Renaud Touraine, Carla Moco, Alessandro Simonati, Enza Maria Valente, Kathryn J. Swoboda, Mustafa Akcakus, Gustavo Maegawa, Lucio Giordano, Sinan Comu, Lorena Travaglini, Cynthia Daugherty, Shubha R. Phadke, Alex Magee, Sofia Kitsiou Tzeli, Elliot Sherr, Marina Michelson, Maha S. Zaki, Kenton R. Holden, Luciana Rigoli, Henry Sanchez, Ignacio Pascual-Castroviejo, Stefania Maria Bova, Robert P. Cruse, Alessandra Ferlini, Maria Alice Donati, Andreas R. Janecke, Rudy Van Coster, Amy Goldstein, David Nicholl, Mirjam M. de Jong, Melissa Lees, Clotilde Lagier-Tourenne, Loredana Boccone, Itxaso Marti, Peter Ludvigsson, Lorenzo Pinelli, Joanne Milisa, [No Value] Ahmad, Joseph G. Gleeson, Carmelo Salpietro, Terence D. Sanger, Elysa DeMarco, Dorit Lev, Alice Abdel-Aleem, Bruria Ben-Zeev, Asma A. Al-Tawari, Francesco Emma, Eco Finsecke, Pasquale Parisi, Roberta Battini, László Sztriha, Padraic Grattan-Smith, Maria Roberta Cilio, Matloob Azam, C. Geoffrey Woods, Elena Procopio, S. Romano, Hülya Kayserili, Martino Ruggieri, Christopher P. Bennett, Roshan Koul, Susana Quijano-Roy, Darryl C. De Vivo, Dave Viskochil, G. Montagna, Anna Rajab, Jennifer L. Silhavy, M. Gentile, Dean Sarco, Gaetano Tortorella, Jane A. Hurst, Chiara Pantaleoni, Kalpathy S. Krishnamoorthy, Patrizia Accorsi, Eugen Boltshauser, James Caldwell, Anna Maria Laverda, Daria Riva, Francesco Brancati, Trudy McKanna, Marilu Di Sabato, Jonina Johannsdottir, Marc D'Hooghe, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Stefania Bigoni, Heike Philippi, Alison Seward, Gianluca Caridi, D. Zablocka, Alain Verloes, Aldon E. Clark, Wendy K. Chung, Rita Fischetto, Ghada M H Abdel-Salam, Silvia Battaglia, Raoul C.M. Hennekam, Bernard L. Maria, Romaine Schubert, Christopher A. Walsh, Tomas E. Gallager, Giuseppe Barrano, Stefano D'Arrigo, Vincenzo Leuzzi
مصطلحات موضوعية: Adult, Male, Cerebellum, DNA Mutational Analysis, RPGRIP1L, Biology, Kidney, medicine.disease_cause, Article, Joubert syndrome, NO, Cohort Studies, Exon, Nephronophthisis, Genetics, medicine, Humans, Genetic Testing, Genetics (clinical), Adaptor Proteins, Signal Transducing, Genetic testing, Family Health, Mutation, medicine.diagnostic_test, Joubert syndrome-related disorders, Syndrome, joubert syndrome-related disorders, molar tooth sign, nephronophthisis, rpgrip1l, medicine.disease, Magnetic Resonance Imaging, Phenotype, Joubert Syndrome Related Disorders, medicine.anatomical_structure, Child, Preschool, Female, Molar tooth sign, Brain Stem
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المؤلفون: John E. Tetzlaff, Robert P. Cruse, Gisela Bunge, Glenn DeBoer, Jack T. Andrish, Hiroshi Mitsumoto
المصدر: Anesthesiology. 72:50-54
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Vastus lateralis muscle, ATPase, chemistry.chemical_element, In Vitro Techniques, Calcium, chemistry.chemical_compound, Caffeine, Internal medicine, medicine, Humans, Fiber, Child, Adenosine Triphosphatases, biology, business.industry, Muscles, Malignant hyperthermia, Drug Tolerance, Anatomy, medicine.disease, Anesthesiology and Pain Medicine, Endocrinology, chemistry, Strontium, biology.protein, Female, Disease Susceptibility, Halothane, Contracture, medicine.symptom, Malignant Hyperthermia, business, Muscle Contraction, medicine.drug
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المؤلفون: Koki Yamada, Caroline Andrews, Wai-Man Chan, Craig A Mckeown, Adriano Magli, Teresa De Berardinis, Anat Loewenstein, Moshe Lazar, Michael O'keefe, Robert Letson, Arnold London, Mark Ruttum, Naomichi Matsumoto, Nakamichi Saito, Lisa Morris, Monte Del Monte, Roger H Johnson, Eiichiro Uyama, Willem A Houtman, Berendina De Vries, Thomas J Carlow, Blaine L Hart, Nicolas Krawiecki, John Shoffner, Marlene C Vogel, James Katowitz, Scott M Goldstein, Alex V Levin, Banu T Ozturk, A Nurten Akarsu, Michael C Brodsky, Frank Hanisch, Robert P Cruse, Alina A Zubcov, Richard M Robb, Peter Roggenkäemper, Irene Gottlob, Lionel Kowal, Ravi Battu, Elias I Traboulsi, Piergiorgio Franceschini, Anna Newlin, Joseph L Demer, Elizabeth C Engle
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1061.5180; http://www.humangenetik-freiburg.de/mediapool/43/433039/data/YamadaCFEOM1ng2003.pdf
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المؤلفون: Robert P Cruse, Jeremy M Shefner, Marvin A Fishman, John F Dashe
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.571.1756; http://www.sonepsyn.cl/templates/sonepsyn2007/pdf/Update_en_Neuropatias_Hereditarias.pdf
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المؤلفون: Robert P. Cruse, Michael D. Medlock, William C. Hanigan
المصدر: Journal of neurosurgery. 79(5)
مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Brain Death, Hemodynamics, Autopsy, White matter, medicine, Humans, Cerebral perfusion pressure, Radionuclide Imaging, business.industry, Brain, Infant, Electroencephalography, Blood flow, medicine.disease, Surgery, Electrophysiology, medicine.anatomical_structure, Glucose, Cerebral blood flow, Cerebrovascular Circulation, Closed head injury, business, Perfusion
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المؤلفون: Robert P. Cruse, Fredrick J. Jaeger, Lori Beth Schneider, James D. Maloney, Fetnat M. Fouad-Tarazi
المصدر: Pacing and clinical electrophysiology : PACE. 13(11 Pt 1)
مصطلحات موضوعية: Adult, Male, Adolescent, Posture, Blood Pressure, Eye, Convulsive syncope, Syncope, Diagnosis, Differential, Electrocardiography, Heart Rate, Seizures, Heart rate, medicine, Pressure, Humans, Asystole, Child, Vasovagal syncope, medicine.diagnostic_test, biology, business.industry, Syncope (genus), General Medicine, medicine.disease, biology.organism_classification, Blood pressure, Anesthesia, Compression test, Female, Cardiology and Cardiovascular Medicine, business, Head
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المؤلفون: Enza Maria Valente, Francesco Brancati, Jennifer L. Silhavy, Marco Castori, Sarah E. Marsh, Giuseppe Barrano, Enrico Bertini, Eugen Boltshauser, Maha S. Zaki, Alice Abdel‐Aleem, Ghada M. H. Abdel‐Salam, Emanuele Bellacchio, Roberta Battini, Robert P. Cruse, William B. Dobyns, Kalpathy S. Krishnamoorthy, Clotilde Lagier‐Tourenne, Alex Magee, Ignacio Pascual‐Castroviejo, Carmelo D. Salpietro
المصدر: Annals of Neurology; Mar2006, Vol. 59 Issue 3, p527-534, 8p
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المؤلفون: Robert P. Cruse, A. D. Rothner, Gerald Erenberg, Elaine Wyllie, Robert Wyllie
المصدر: New England Journal of Medicine. 314:35-38
مصطلحات موضوعية: Male, Nitrazepam, Manometry, medicine.drug_class, Muscle Relaxation, medicine.medical_treatment, Pneumonia, Aspiration, Drooling, Esophagus, Seizures, Reflex, medicine, Humans, Child, Benzodiazepine, business.industry, Infant, Sialorrhea, General Medicine, Dysphagia, Deglutition, Anticonvulsant, Muscle relaxation, Anesthesia, Female, medicine.symptom, Deglutition Disorders, business, Muscle Contraction, medicine.drug
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13
المؤلفون: Robert P. Cruse, John P. Conomy, Karen L. Barnes
المصدر: Cleveland Clinic Journal of Medicine. 45:197-206
مصطلحات موضوعية: Adult, Adolescent, business.industry, Sensation, General Medicine, Sensory analysis, Text mining, Child, Preschool, Skin Physiological Phenomena, Methods, Humans, Medicine, Nervous System Diseases, Child, business, Clinical psychology
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14
المؤلفون: Sanging Shu, Robert P. Cruse, Geoffrey P. Redmond
المصدر: Brain and Development. 11:62-65
مصطلحات موضوعية: Blood Glucose, Male, medicine.medical_specialty, Pediatrics, Vomiting, Fasting Hypoglycemia, Hypoglycemia, Muscle disorder, Muscular Dystrophies, Developmental Neuroscience, Internal medicine, medicine, Humans, Muscular dystrophy, Child, Acidosis, Dehydration, business.industry, Metabolic acidosis, Fasting, General Medicine, medicine.disease, Endocrinology, Pediatrics, Perinatology and Child Health, Congenital muscular dystrophy, Neurology (clinical), medicine.symptom, business
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15
المؤلفون: A. D. Rothner, Robert P. Cruse, Gerald Erenberg
المصدر: Cleveland Clinic Journal of Medicine. 53:127-131
مصطلحات موضوعية: Male, medicine.medical_specialty, Tic disorder, Adolescent, Tics, Learning Disabilities, business.industry, Mean age, Child Behavior Disorders, General Medicine, medicine.disease, Tourette syndrome, Family member, Attention Deficit Disorder with Hyperactivity, Child, Preschool, Humans, Learning disorders, Medicine, Female, Child, business, Psychiatry, Tourette Syndrome
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16
المؤلفون: Robert P. Cruse, Javad Towfighi, John A. Stryker, Robert Vannuci, C. K. Chung
المصدر: Cancer. 47:2563-2566
مصطلحات موضوعية: Cancer Research, medicine.medical_specialty, Chemotherapy, business.industry, medicine.medical_treatment, Intrathecal methotrexate, medicine.disease, Gastroenterology, Surgery, Leukemia, Oncology, Acute lymphocytic leukemia, Left Cerebral Hemisphere, Internal medicine, Glioma, medicine, Prophylactic cranial irradiation, business, Glioblastoma
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d65e6c847788c7b819123422801b82b7
https://doi.org/10.1002/1097-0142(19810601)47:11<2563::aid-cncr2820471108>3.0.co;2-o -
17
المؤلفون: Asa J. Wilbourn, John P. Conomy, Robert P. Cruse, Maurice R. Hanson
المصدر: Cleveland Clinic Journal of Medicine. 44:107-112
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Electromyography, business.industry, MEDLINE, Peripheral Nervous System Diseases, Hereditary hypertrophic neuropathy, General Medicine, Deafness, Middle Aged, Trigeminal Neuralgia, medicine.disease, Dermatology, Muscular Atrophy, Tooth disease, Charcot-Marie-Tooth Disease, Trigeminal neuralgia, North Carolina, medicine, Humans, Female, Child, business
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18
المؤلفون: Robert P. Cruse, Charles Lanzeiri, Gene H. Barnett, Premkumar Pillay
المصدر: Pediatric Neurosurgery. 15:74-79
مصطلحات موضوعية: Male, Tentorium cerebelli, Encephalocele, Dandy–Walker syndrome, Humans, Medicine, Cyst, Child, medicine.diagnostic_test, business.industry, Posterior fossa cyst, Magnetic resonance imaging, General Medicine, Anatomy, medicine.disease, Magnetic Resonance Imaging, Cerebrospinal Fluid Shunts, Hydrocephalus, Shunting, Pediatrics, Perinatology and Child Health, Surgery, Neurology (clinical), Dandy-Walker Syndrome, business
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19
المصدر: The Journal of Pediatrics. 99:250-252
مصطلحات موضوعية: medicine.medical_specialty, Acute leukemia, Adolescent, business.industry, Cancer, Lipid metabolism, Fibroma, Metabolism, medicine.disease, Gastroenterology, Sepsis, Pathogenesis, Parenteral nutrition, Crohn Disease, Lactic acidosis, Internal medicine, Pediatrics, Perinatology and Child Health, Humans, Orbital Neoplasms, Medicine, Female, business
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20
المؤلفون: Robert P. Cruse, Herbert Faleck, Kerry H. Levin, Melinda L. Estes
المصدر: Cleveland Clinic Journal of Medicine. 56:539-541
مصطلحات موضوعية: medicine.medical_specialty, Polyradiculoneuropathy, Inflammation, Gastroenterology, Immunoglobulin G, Cerebrospinal fluid, Prednisone, Internal medicine, medicine, Humans, Nerve biopsy, medicine.diagnostic_test, biology, business.industry, Infant, Respiratory infection, General Medicine, medicine.disease, Chronic Disease, biology.protein, Female, medicine.symptom, Active inflammation, business, medicine.drug