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المؤلفون: Laura Lancella, Silvia Garazzino, Susanna Esposito, Carlotta Montagnani, Sitip Brain Abscesses Registry, Claudio Pignata, G. Castelli Gattinara, Pier-Angelo Tovo, R. Lipreri, Filippo Bernardi, Irene Raffaldi, Anna Maria Giannini, Gian Luigi Marseglia
المساهمون: Raffaldi, I., Garazzino, S., CASTELLI GATTINARA, G., Lipreri, R., Lancella, L., Esposito, S., Giannini, A. M., Montagnani, C., Marseglia, G. L., Pignata, C., Bernardi, F., Tovo, P. -. A.
المصدر: Epidemiology and Infection. 145:2848-2855
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Adolescent, Epidemiology, medicine.drug_class, Antibiotics, central nervous system infections, Anaerobic bacteria, antibiotics, bacterial infections, emerging infections, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Retrospective Studie, antibiotic, central nervous system infection, 030225 pediatrics, Anti-Bacterial Agent, Prevalence, medicine, emerging infection, Child, Brain abscess, Bacteria, business.industry, Incidence, Risk Factor, Incidence (epidemiology), bacterial infection, Infant, Newborn, Infant, Retrospective cohort study, Sequela, medicine.disease, Treatment Outcome, Infectious Diseases, Italy, Brain Absce, Child, Preschool, Female, business, anaerobic bacteria, 030217 neurology & neurosurgery, Human
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المؤلفون: Francesco Toni, Fabrizio De Ponti, Susanna Landini, Filomena Carfagnini, Davide Tassinari, Benedetta Romanin, Ilaria Corsini, Elisa Ballarini, Filippo Bernardi, R. Bergamaschi
المساهمون: Davide Tassinari, Rosalba Bergamaschi, Ilaria Corsini, Susanna Landini, Benedetta Romanin, Elisa Ballarini, Fabrizio De Ponti, Filomena Carfagnini, Francesco Toni, Filippo Bernardi
المصدر: Pediatric Neurology. 52:457-459
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Encephalopathy, CHILDREN, PRES, Vasogenic edema, Developmental Neuroscience, Glycyrrhiza, medicine, Humans, Brain magnetic resonance imaging, Child, business.industry, 11β hydroxysteroid dehydrogenase, Brain, Posterior reversible encephalopathy syndrome, Glycyrrhizic Acid, medicine.disease, Magnetic Resonance Imaging, Diet, Blood pressure, Neurology, Anesthesia, Hypertension, Pediatrics, Perinatology and Child Health, Posterior Leukoencephalopathy Syndrome, Neurology (clinical), business, Follow-Up Studies
وصف الملف: ELETTRONICO
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المؤلفون: Francesca Visciotti, Giulia Lombardi, Maria Paola Landini, Paola Dal Monte, Salvatore Cazzato, Maria Letizia Bacchi Reggiani, Roberta Petrucci, Filippo Bernardi, Ilaria Corsini
المساهمون: Lombardi, Giulia, Petrucci, Roberta, Corsini, Ilaria, Bacchi Reggiani, Maria Letizia, Visciotti, Francesca, Bernardi, Filippo, Landini, Maria Paola, Cazzato, Salvatore, Dal Monte, Paola
مصطلحات موضوعية: Male, 0301 basic medicine, Microbiology (medical), medicine.medical_specialty, Tuberculosis, Adolescent, 030106 microbiology, Interferon-gamma, 03 medical and health sciences, 0302 clinical medicine, Antigen, Latent Tuberculosis, Internal medicine, Gamma interferon, Active tb, medicine, Humans, Interferon gamma, 030212 general & internal medicine, Child, Retrospective Studies, Antigens, Bacterial, Bacteriological Techniques, Tuberculin Test, business.industry, Age Factors, Infant, Newborn, Infant, Mycobacteriology and Aerobic Actinomycetes, Mycobacterium tuberculosis, medicine.disease, Active tuberculosis, bacterial infections and mycoses, Italy, Child, Preschool, Female, Mitogens, business, Quantitative analysis (chemistry), Tuberculosis, Interferon-gamma, children, QFT-IT, Interferon-gamma Release Tests, Pediatric population, medicine.drug
وصف الملف: ELETTRONICO
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5118856912eb81c86c2fa1933840c7bd
http://hdl.handle.net/11585/615827 -
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المؤلفون: Roberta Petrucci, Ilaria Corsini, Paola Dal Monte, Maria Paola Landini, Filippo Bernardi, Francesca Visciotti, Giulia Lombardi, Maria Letizia Bacchi Reggiani, Salvatore Cazzato
مصطلحات موضوعية: Male, Microbiology (medical), Pediatrics, medicine.medical_specialty, Tuberculosis, Adolescent, QUANTIFERON-TB GOLD, Tuberculin, tuberculin skin test, Diagnostic accuracy, Sensitivity and Specificity, 03 medical and health sciences, 0302 clinical medicine, Tuberculosis diagnosis, children, 030225 pediatrics, Medicine, Humans, 030212 general & internal medicine, Child, Quantiferon-TB Gold In-Tube, Retrospective Studies, Bacteriological Techniques, business.industry, Tuberculin Test, Infant, Newborn, Infant, Retrospective cohort study, Skin test, Mycobacterium tuberculosis, medicine.disease, bacterial infections and mycoses, Infectious Diseases, age, tuberculosis, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business, Interferon-gamma Release Tests, Pediatric population
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f2fea3db5c5a4dd22cfcf3a12281c3b
http://hdl.handle.net/11585/592490 -
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المصدر: Pediatric Pulmonology. 48:830-837
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Vital capacity, Pediatrics, medicine.medical_specialty, business.industry, Birth weight, Gestational age, respiratory system, medicine.disease, Gastroenterology, Pulmonary function testing, Low birth weight, Bronchopulmonary dysplasia, Diffusing capacity, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Lung volumes, medicine.symptom, business
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المؤلفون: Fabio Pizza, Filippo Bernardi, Virginia Ponziani, Monia Gennari, Giuseppe Plazzi, Antonio Balsamo
المساهمون: Ponziani, Virginia, Gennari, Monia, Pizza, Fabio, Balsamo, Antonio, Bernardi, Filippo, Plazzi, Giuseppe
مصطلحات موضوعية: Male, Growth, Narcolepsy Type 1, Obesity, Precocious Puberty, Sodium Oxybate, Pulmonary and Respiratory Medicine, Neurology, Neurology (clinical), medicine.medical_specialty, Pediatrics, Body Mass Index, 03 medical and health sciences, Child Development, 0302 clinical medicine, Internal medicine, medicine, Humans, Precocious puberty, 030212 general & internal medicine, ENDOCRINE FEATURES, Child, Narcolepsy, Metabolic Syndrome, Anthropometry, business.industry, Body Weight, Puberty, Overweight, medicine.disease, Scientific Investigations, Endocrinology, Female, business, 030217 neurology & neurosurgery
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fba13c5eb63b08d76475a2c25250484
http://www.aasmnet.org/jcsm/ViewAbstract.aspx?pid=30895 -
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المؤلفون: Galli L., Lancella L., Garazzino S., Tadolini M., Matteelli A., Migliori G. B., Principi N., Villani A., Esposito S. Italian Pediatric TB Study Group: Samantha Bosis, Claudia Tagliabue, Laura Senatore, Beatrice Ascolese, Laura Cursi, Annalisa Grandin, Caterina Marabotto, Maurizio de Martino, Elena Chiappini, Carlotta Montagnani, Daniele Ciofi, Filippo Festini, Martina Anziati, Sabrina Becciani, Giulia Remaschi, Sara Sollai, Chiara Tersigni, Elisabetta Venturini, Alfredo Guarino, Andrea Lo Vecchio, Riccardo Scotto, Fi lippo Bernardi, Elisa Bertazzoni, Francesco Blasi, Marialuisa Bocchino, Luca Assante, Elio Castagnola, Giuseppe Losurdo, Giannina Gaslini, Luigi Codec, Giuseppe Di Mauro, Marino Faccini, Clara Gabiano, Daniele Le Serre, Irene Raffaldi, Regina Margherita, Gianluigi Marseglia, Amelia Mascolo, Mauro Stronati, Rosella Centis, Lia D'Ambrosio, Angela Pasinato, Cristina Russo, Franco Scaglione, Elisabetta Scala, Paolo Tomà, Susanna Esposito, Luisa Galli, Laura Lancella, Nicola Principi, Samantha Bosis, Silvi a Garazzino, Alberto Villani, Filippo Bernardi, Luigi Codecasa, Alberto Matteelli, Enrico Tortoli, Francesco Scaglione, Daniela Cirillo, Giovanni Battista Migliori, Marina Tadolini
المساهمون: L., Galli, L., Lancella, S., Garazzino, M., Tadolini, A., Matteelli, G. B., Migliori, N., Principi, A., Villani, Italian Pediatric TB Study Group: Samantha Bosis, Esposito S., Tagliabue, Claudia, Senatore, Laura, Ascolese, Beatrice, Cursi, Laura, Grandin, Annalisa, Marabotto, Caterina, de Martino, Maurizio, Chiappini, Elena, Montagnani, Carlotta, Ciofi, Daniele, Festini, Filippo, Anziati, Martina, Becciani, Sabrina, Remaschi, Giulia, Sollai, Sara, Tersigni, Chiara, Venturini, Elisabetta, Guarino, Alfredo, LO VECCHIO, Andrea, Scotto, Riccardo, lippo Bernardi, Fi, Bertazzoni, Elisa, Blasi, Francesco, Bocchino, Marialuisa, Assante, LUCA ROSARIO, Castagnola, Elio, Losurdo, Giuseppe, Gaslini, Giannina, Codec, Luigi, Di Mauro, Giuseppe, Faccini, Marino, Gabiano, Clara, Le Serre, Daniele, Raffaldi, Irene, Margherita, Regina, Marseglia, Gianluigi, Mascolo, Amelia, Stronati, Mauro, Centis, Rosella, D'Ambrosio, Lia, Pasinato, Angela, Russo, Cristina, Scaglione, Franco, Scala, Elisabetta, Tomà, Paolo, Esposito, Susanna, Galli, Luisa, Lancella, Laura, Lo Vecchio, Andrea, Principi, Nicola, Bosis, Samantha, a Garazzino, Silvi, Villani, Alberto, Bernardi, Filippo, Assante, Luca, Codecasa, Luigi, Matteelli, Alberto, Tortoli, Enrico, Scaglione, Francesco, Cirillo, Daniela, Battista Migliori, Giovanni, Tadolini, Marina, Garazzino, Silvia, Migliori, Giovanni Battista
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Tuberculosis, Extensively Drug-Resistant Tuberculosis, 030106 microbiology, Antitubercular Agents, Pediatric tuberculosi, Anti-tuberculosis drugs, MDR-TB, Mycobacterium tuberculosi, Mycobacterium tuberculosis, 03 medical and health sciences, Therapeutic approach, Antitubercular Agent, 0302 clinical medicine, Tuberculosis, Multidrug-Resistant, Children, Pediatric tuberculosis, XDR-TB, Pharmacology, Humans, Medicine, 030212 general & internal medicine, Adverse effect, Child, Cause of death, biology, business.industry, Anti-tuberculosis drug, Extensively drug-resistant tuberculosis, medicine.disease, biology.organism_classification, Settore MED/38, Systematic review, Infectious disease (medical specialty), Extensively Drug-Resistant Tuberculosi, Practice Guidelines as Topic, business, Human
وصف الملف: ELETTRONICO
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f016f5d3b7601296101a7c7448e95b18
http://hdl.handle.net/11588/821587 -
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المؤلفون: Mario Lima, E. di Palmo, R. Bergamaschi, S. Tursini, C. Di Silverio Carulli, Alberto Cicognani, Filippo Bernardi, Nunzio Salfi, Salvatore Cazzato, A. Mazzotta
المساهمون: E. di Palmo, S. Cazzato, S. Tursini, N.C.M Salfi, A. Mazzotta, C. Di Silverio Carulli, M. Lima, R. Bergamaschi, F. Bernardi, A. Cicognani
المصدر: Pediatric Pulmonology. 46:934-938
مصطلحات موضوعية: LARYNGOSPASM, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Alginates, Laryngismus, Esophageal Diseases, Ranitidine, Severity of Illness Index, Asymptomatic, Malignant transformation, Glucuronic Acid, CHILD, Severity of illness, Gastric mucosa, Humans, Medicine, Cervical esophagus, Laryngospasm, COUGH, business.industry, Hexuronic Acids, Upper endoscopy, INLET PATCH, Anti-Ulcer Agents, Surgery, Treatment Outcome, medicine.anatomical_structure, Acid suppression, Gastric Mucosa, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Omeprazole
وصف الملف: STAMPA
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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: F. Chiodo, Monica Galliano, Monica Dagnino, Davide Tassinari, Ilaria Bettocchi, Gianluca Caridi, Monica Campagnoli, M. Marsciani, Filippo Bernardi, Lorenzo Minchiotti
المصدر: European Journal of Clinical Investigation. 40:281-284
مصطلحات موضوعية: Proband, DNA Mutational Analysis, Clinical Biochemistry, Serum albumin, Biology, Compound heterozygosity, Biochemistry, Frameshift mutation, Exon, medicine, Humans, Child, Frameshift Mutation, Analbuminaemia, Polymorphism, Single-Stranded Conformational, Serum Albumin, Genetics, Single-strand conformation polymorphism, Exons, General Medicine, medicine.disease, Molecular biology, Italy, biology.protein, Female, Heteroduplex