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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8f64992e7a2eb93dc8f809d7d786fcf
https://doi.org/10.1002/humu.21239

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::503f38e3254efb202533148c92abe089
https://research.rug.nl/en/publications/7656e8c1-dbb1-45bb-82c1-1fab398a6a9c

المؤلفون: Elizabeth M. McNally, Eric P. Hoffman, Satoru Noguchi, Robert P. Cruse, Corrado Angelini, Louis M. Kunkel, Hart G.W. Lidov, J. Rafael Gorospe, Carsten G. Bönnemann, Richard S. Finkel, Marina Fanin, Elena Pegoraro, David Duggan, Eijiro Ozawa

المصدر: Human Molecular Genetics. 5:1841-1847

مصطلحات موضوعية: Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Molecular Sequence Data, Genes, Recessive, In Vitro Techniques, Gene mutation, Muscular Dystrophies, Dystrophin, Dysferlin, SGCG, Sarcoglycans, Genetics, medicine, Humans, Amino Acid Sequence, Muscular dystrophy, Child, Frameshift Mutation, Muscle, Skeletal, Molecular Biology, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Sequence Deletion, Membrane Glycoproteins, Sequence Homology, Amino Acid, biology, Homozygote, General Medicine, musculoskeletal system, medicine.disease, United States, Cytoskeletal Proteins, Sarcoglycan, Sarcoglycanopathy, Italy, Mutation, biology.protein, Sarcoglycanopathies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4852929cef58bddf19276fe4c83393a
https://doi.org/10.1093/hmg/5.11.1841

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.33025

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f64afa39636eb3bd0d703cd79fea0af0
https://doi.org/10.1002/ajmg.a.33025

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62211f8ecf25bb4cb028da7fe64b0a3e
http://hdl.handle.net/11570/3092293

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b46cd44ab966df3c73facf95616a8e0
https://doi.org/10.1097/00000542-199001000-00010

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96244a441b127d23a8aa91f5412dd0b9
https://pubmed.ncbi.nlm.nih.gov/7931609

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff56fe5943e367de014c1fef547eb635
https://pubmed.ncbi.nlm.nih.gov/1701896

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

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1a828ed23e0faf4d86ab2c0487a842e
https://doi.org/10.3949/ccjm.45.2.197