المؤلفون: Enzo Di Iorio, Ginevra Giovanna Adamo, Ugo Sorrentino, Katia De Nadai, Vanessa Barbaro, Marco Mura, Marco Pellegrini, Francesca Boaretto, Marco Tavolato, Agnese Suppiej, Francesco Nasini, Leonardo Salviati, Francesco Parmeggiani

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Inherited retinal dystrophy, Autosomal recessive retinitis pigmentosa, EYS gene variant, Pseudodominant inheritance, Genetic testing, Copy-number variation, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/19c63ac2433e44ae8524a2bb4611ce55

المؤلفون: Gaia Martire, Federica Lovisa, Elisa Carraro, Domenico Rizzato, Simone Cesaro, Rosa Maria Mura, Annalisa Tondo, Cinzia Bertolin, Francesca Boaretto, Leonardo Salviati, Alessandra Biffi, Marta Pillon, Lara Mussolin

المصدر: Haematologica, Vol 999, Iss 1 (2024)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/11473; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/cb46ad2de9d44114a2d6383d21265426

المؤلفون: Ugo Sorrentino, Chiara Piccolo, Chiara Rigon, Valeria Brasson, Eva Trevisson, Francesca Boaretto, Alessandro Martini, Matteo Cassina

المصدر: Audiology Research, Vol 11, Iss 4, Pp 582-593 (2021)

مصطلحات موضوعية: ACTG1, DFNA20, DFNA26, gamma-actin, non-syndromic hearing loss, NGS, Otorhinolaryngology, RF1-547

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2039-4349/11/4/52; https://doaj.org/toc/2039-4349

URL الوصول: https://doaj.org/article/1d73004211ad428e95e8f38338a17aad

المؤلفون: Gianluca Occhi, Daniela Regazzo, Giampaolo Trivellin, Francesca Boaretto, Denis Ciato, Sara Bobisse, Sergio Ferasin, Filomena Cetani, Elena Pardi, Márta Korbonits, Natalia S Pellegata, Viktoryia Sidarovich, Alessandro Quattrone, Giuseppe Opocher, Franco Mantero, Carla Scaroni

المصدر: PLoS Genetics, Vol 9, Iss 3, p e1003350 (2013)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3605397?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/7a005470300548b79d0def9f433f2acc

المؤلفون: Paola Fortugno, Rosanna Monetta, Valeria Cinquina, Chiara Rigon, Francesca Boaretto, Chiara De Luca, Nicoletta Zoppi, Luana Di Leandro, Emanuela De Domenico, Arianna Di Daniele, Rodolfo Ippoliti, Francesco Angelucci, Ernesto Di Cesare, Ruggero De Paulis, Leonardo Salviati, Marina Colombi, Francesco Brancati, Marco Ritelli

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bec70ccd70c2800c09ed3cc7c1a0d8d
https://hdl.handle.net/11697/205221

المؤلفون: Eva Trevisson, Alessandro Martini, Valeria Brasson, Chiara Rigon, Ugo Sorrentino, Matteo Cassina, Francesca Boaretto, Chiara Piccolo

المصدر: Audiology Research
Audiology Research, Vol 11, Iss 52, Pp 582-593 (2021)

مصطلحات موضوعية: Genetics, ACTG1, DFNA20, Hearing loss, Stereocilia (inner ear), DFNA26, gamma-actin, non-syndromic hearing loss, NGS, Case Report, Biology, Phenotype, Otorhinolaryngology, RF1-547, medicine, otorhinolaryngologic diseases, Missense mutation, medicine.symptom, Gene, Tinnitus, Actin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3be0e14a6b6b5d521b7af54a969c089
http://europepmc.org/articles/PMC8544197

المؤلفون: Andreas Ebbehoj, Eleonora P M Corssmit, Jan Calissendorff, Thera P. Links, Özer Makay, Maximilien Rappaport, Petr Vlĕek, Tushar Bandgar, Catharina Larsson, Elena N. Grineva, Luigi Petramala, Ravinder Kaur, Viacheslav I. Egorov, Hartmut P. H. Neumann, Heather Wachtel, Tobias Else, Francesca Boaretto, Xiao-Ping Qi, Henri J L M Timmers, Anna Roslyakova, M. Umit Ugurlu, Ronald M. Lechan, Anand Vaidya, Kornelia Hasse-Lazar, Claudio E. Kater, Esben Søndergaard, Zhi-xian Yu, Rene Eduardo Diaz, Mohammad Hassan Murad, Ruth T Casey, Debbie L. Cohen, Roman Petrov, Lucinda Gruber, C Christofer Juhlin, Claudio Letizia, Maria Adelaide Albergaria Pereira, Inna Stepanovna Kudlai, Bernadette Jenner, Sergiy Cherenko, Lauren Fishbein, William F. Young, Ya-Sheng Huang, Marina Y. Yukina, Scott A Akker, Andrey Y Kovalenko, Uma Kaimal Saikia, Minghao Li, Silvia Rizzati, Stefania Zovato, Xu-dong Fang, Nelson Wohllk, Charis Eng, Mariola Pęczkowska, Martin Fassnacht, Sanjeet Kumar Jaiswal, Oliver Gimm, Gianluca Donatini, Milan Jovanovic, Robin P.F Dullaart, Ilgin Yildirim Simsir, Helen Simpson, Maciej Robaczyk, Marcin Barczyński, Steven G. Waguespack, Katharina Langton, Martin K. Walz, Paul Skierczynski, Alfonso Massimiliano Ferrara, Dipti Sarma, Irina Bancos, Vishnu Garla, Birke Bausch, Maria João Bugalho, Merav Fraenkel, Joanne Ngeow Yuen Yie, Flavia A Costa-Barbosa, Giuseppe Opocher, Camilo Jimenez, Tada Kunavisarut, Larry J. Prokop, Lawrence S Kirschner, Longfei Liu, Feyza Erenler, Elisa Taschin, Valentina Morelli, Per Løgstrup Poulsen, Marcus Quinkler, Natalia Valeryevna Khudiakova, Åse Krogh Rasmussen, Volha Vasilkova, Nicola Tufton, Nikita V. Ivanov, William Drake, Maryna Bobryk, Eric Jonasch, Swati Ramteke-Jadhav, Aviva Cohn, Diane Donegan, Sarka Dvorakova, Elizabeth J. Atkinson, Dmitry Beltsevich, Emma Hodson, Uliana Tsoy, Nino Zavrashvili, Jochen Seufert, Zulfiya Shafigullina, Xin He, Utku E Soyaltin, Nicole M. Iñiguez-Ariza, Timo Deutschbein, Francesca Schiavi, Mark Sherlock, Stefan Zschiedrich, Jes Sloth Mathiesen, Bonita Bennett, Anna Riester, Nalini S. Shah, Giovanni Barbon, Julie A Miller

المصدر: Bancos, I, Atkinson, E J, Eng, C, Young, W F, Neumann, H P H & International Pheochromocytoma and Pregnancy Study Group 2021, ' Maternal and fetal outcomes in phaeochromocytoma and pregnancy : a multicentre retrospective cohort study and systematic review of literature ', The Lancet Diabetes & Endocrinology, vol. 9, no. 1, pp. 13-21 . https://doi.org/10.1016/S2213-8587(20)30363-6
Lancet Diabetes & Endocrinology, 9, 1, pp. 13-21
Bancos, I, Atkinson, E, Eng, C, Young, W F, Neumann, H P H, International Pheochromocytoma and Pregnancy Study Group & Robaczyk, M G 2021, ' Maternal and fetal outcomes in phaeochromocytoma and pregnancy : a multicentre retrospective cohort study and systematic review of literature ', The Lancet Diabetes and Endocrinology, vol. 9, no. 1, pp. 13-21 . https://doi.org/10.1016/S2213-8587(20)30363-6
Lancet Diabetes & Endocrinology, 9, 13-21
Lancet Diabetes Endocrinol

مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, Adrenal Gland Neoplasms, hemodynamics, Infant, Newborn, Diseases, Cohort Studies, paraganglioma, 0302 clinical medicine, Endocrinology, Pregnancy, 030212 general & internal medicine, resection, Young adult, Obstetrics, Incidence, Incidence (epidemiology), endocrine neoplasia type-2, case series, mutations, Pregnancy Outcome, Vascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16], Prenatal Care, Fear, Middle Aged, Multicenter study, Fetal Diseases, Prenatal Exposure Delayed Effects, Cohort, Female, Pregnancy Complications, Neoplastic, Cohort study, Adult, medicine.medical_specialty, Adolescent, 030209 endocrinology & metabolism, Pheochromocytoma, Article, Young Adult, 03 medical and health sciences, Internal Medicine, medicine, Humans, Retrospective Studies, Literature review, business.industry, Infant, Newborn, Retrospective cohort study, Odds ratio, medicine.disease, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5323c7add8c398d2a79180450e78b9b
https://hdl.handle.net/2066/245825

المؤلفون: Elisa Taschin, Alessandra Murgia, Francesca Schiavi, Mariagiulia Anglani, Bruno Scarpa, Mario Gardi, Alberto Feletti, Giuseppe Opocher, Giacomo Pavesi, Stefania Zovato, Alfonso Massimiliano Ferrara, Francesca Boaretto, Stefano Piermarocchi, Elisabetta Zanoletti

المصدر: Journal of neurosurgical sciences. 65(2)

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, von Hippel-Lindau Disease, business.industry, medicine, Humans, Surgery, Neurology (clinical), Von Hippel–Lindau disease, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5ce6aea1231b78ef2ae3b82705fa107
https://pubmed.ncbi.nlm.nih.gov/32347679

المؤلفون: Luca Rampoldi, Gianluca Caridi, Daniela Santon, Francesca Boaretto, Ilenia Bernascone, Regina Tardanico, Monica Dagnino, Giacomo Colussi, Francesco Scolari, Gian Marco Ghiggeri, Antonio Amoroso, Giorgio Casari

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://hmg.oxfordjournals.org/content/12/24/3369.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.326.3385; http://hmg.oxfordjournals.org/content/12/24/3369.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.326.3385
http://hmg.oxfordjournals.org/content/12/24/3369.full.pdf

المؤلفون: Stefania Zovato, Annamaria Colao, Caterina Fossi, Luisella Cianferotti, Federica Cioppi, Paola Loli, Giuseppe Opocher, Paolo Beck-Peccoz, Antongiulio Faggiano, Filomena Cetani, Anna Spada, Luca Persani, Fabiana Guizzardi, Francesca Boaretto, Francesco Tonelli, Diego Ferone, Alfredo Scillitani, Laura Masi, Claudio Marcocci, Paola Tomassetti, Francesca Giusti, Maria Luisa Brandi, Piero Ferolla, Francesca Marini, Maria Vittoria Davì, Giuseppe Fanciulli, Franco Mantero

المصدر: Endocrine. 62(1)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Published Erratum, MEDLINE, Mistake, medicine.disease, Germline, Endocrinology, Type (biology), MEN1, Medicine, Table (database), business, Multiple endocrine neoplasia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b9abe66687c2d669ac356aa6ec9f4a7
https://pubmed.ncbi.nlm.nih.gov/29497973

المؤلفون: Maria Luisa Brandi, Maria Vittoria Davì, Paola Loli, Francesca Marini, Luisella Cianferotti, Giuseppe Fanciulli, Claudio Marcocci, Antongiulio Faggiano, Fabiana Guizzardi, Franco Mantero, Francesca Giusti, Stefania Zovato, Anna Spada, Francesca Boaretto, Diego Ferone, Filomena Cetani, Alfredo Scillitani, Paolo Beck-Peccoz, Piero Ferolla, Giuseppe Opocher, Laura Masi, Paola Tomassetti, Annamaria Colao, Caterina Fossi, Federica Cioppi, Luca Persani, Francesco Tonelli

المساهمون: Marini, Francesca, Giusti, Francesca, Fossi, Caterina, Cioppi, Federica, Cianferotti, Luisella, Masi, Laura, Boaretto, Francesca, Zovato, Stefania, Cetani, Filomena, Colao, Annamaria, Davì, Maria Vittoria, Faggiano, Antongiulio, Fanciulli, Giuseppe, Ferolla, Piero, Ferone, Diego, Loli, Paola, Mantero, Franco, Marcocci, Claudio, Opocher, Giuseppe, Beck-Peccoz, Paolo, Persani, Luca, Scillitani, Alfredo, Guizzardi, Fabiana, Spada, Anna, Tomassetti, Paola, Tonelli, Francesco, Brandi, Maria Luisa

المصدر: Endocrine. 62(1)

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, MEN1 inactivating mutations, endocrine system diseases, Adolescent, Databases, Factual, Genotype, Endocrinology, Diabetes and Metabolism, Nonsense mutation, 030209 endocrinology & metabolism, Biology, Frameshift mutation, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Endocrinology, Proto-Oncogene Proteins, medicine, Multiple Endocrine Neoplasia Type 1, Missense mutation, Humans, MEN1, Multiple endocrine neoplasia, Child, Genetic test, Germ-Line Mutation, Aged, Genetics, Genotype–phenotype correlation, Multiple endocrine neoplasia type 1, Middle Aged, medicine.disease, genotype–phenotype correlation, multiple endocrine neoplasia type 1, endocrinology, diabetes and metabolism, Penetrance, Diabetes and Metabolism, Phenotype, Italy, 030220 oncology & carcinogenesis, Child, Preschool, Mutation (genetic algorithm), MEN1 inactivating mutation, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c759b1091b6b5739a8411ce04e0d8a6
https://pubmed.ncbi.nlm.nih.gov/30032405

المؤلفون: Filomena Cetani, Francesca Giusti, Francesca Marini, Anna Spada, Giuseppe Fanciulli, Franco Mantero, Laura Masi, Francesco Tonelli, Paola Tomassetti, Luisella Cianferotti, Annamaria Colao, Caterina Fossi, Paolo Beck-Peccoz, Antongiulio Faggiano, Alfredo Scillitani, Claudio Marcocci, Federica Cioppi, Maria Vittoria Davì, Francesco Giudici, Giorgio Gronchi, Paola Loli, Luca Persani, Maria Luisa Brandi, Francesca Boaretto, Piero Ferolla, Giovanna Sciortino, Giuseppe Opocher, Diego Ferone

المساهمون: Giusti, Francesca, Cianferotti, Luisella, Boaretto, Francesca, Cetani, Filomena, Cioppi, Federica, Colao, Annamaria, Davì, Maria Vittoria, Faggiano, Antongiulio, Fanciulli, Giuseppe, Ferolla, Piero, Ferone, Diego, Fossi, Caterina, Giudici, Francesco, Gronchi, Giorgio, Loli, Paola, Mantero, Franco, Marcocci, Claudio, Marini, Francesca, Masi, Laura, Opocher, Giuseppe, Beck Peccoz, Paolo, Persani, Luca, Scillitani, Alfredo, Sciortino, Giovanna, Spada, Anna, Tomassetti, Paola, Tonelli, Francesco, Brandi, Maria Luisa

مصطلحات موضوعية: Male, Proband, Pathology, Pediatrics, Gastroenteropancreatic tumor, Endocrinology, Diabetes and Metabolism, Neuroendocrine tumors, 0302 clinical medicine, Endocrinology, Epidemiology, Registries, Child, Multiple endocrine neoplasia, Pituitary adenomas, Aged, 80 and over, Middle Aged, Pedigree, Gastroenteropancreatic tumors, Italian registry, MEN1, MEN1 genetic test, Primary hyperparathyroidism, Diabetes and Metabolism, Italy, Child, Preschool, 030220 oncology & carcinogenesis, Female, Symptom Assessment, medicine.symptom, Adult, medicine.medical_specialty, Adolescent, 030209 endocrinology & metabolism, Asymptomatic, Young Adult, 03 medical and health sciences, Proto-Oncogene Proteins, Multiple Endocrine Neoplasia Type 1, medicine, Humans, Genetic Testing, Aged, business.industry, Pituitary tumors, medicine.disease, Pituitary adenoma, pituitary adenomas, primary hyperparathyroidism, Mutation, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::232306613d56aa75bb01f6fde5781d14
http://hdl.handle.net/11567/892343

المؤلفون: Giovanni Vazza, Cecilia Salvoro, Francesca Boaretto, Angelo Barbato, Deborah Snijders

المصدر: 7.6 Paediatric Respiratory Epidemiology.

مصطلحات موضوعية: Genetics, education.field_of_study, Mutation, Cilium, Population, Genetic disorder, Biology, medicine.disease, Compound heterozygosity, medicine.disease_cause, Genetic analysis, Phenotype, medicine, education, Primary ciliary dyskinesia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dfe8038d691fd4c81d9b3171c5b74d8f
https://doi.org/10.1183/13993003.congress-2016.pa3123

المؤلفون: Francesca Boaretto, Angelo Poletti, Valeria Crippa, Ludovico Lispi, Mingyan Fang, Giovanni Vazza, Rosario Rizzuto, Paola Rusmini, Andrea Vettori, Maria Luisa Mostacciuolo, Maria Muglia, Laura Diano, Sofia Zanin, Gian Maria Fabrizi, Zhouxuan Li, Giorgia Pallafacchina, Antonio Petrucci, Elisa Gregianin, Tiziana Cavallaro

المصدر: Human molecular genetics
25 (2016): 3741–3753. doi:10.1093/hmg/ddw220
info:cnr-pdr/source/autori:Gregianin, E.; Pallafacchina, G.; Zanin, S.; Crippa, V.; Rusmini, P.; Poletti, A.; Fang, M.; Li, Z.; Diano, L.; Petrucci, A.; Lispi, L.; Cavallaro, T.; Fabrizi, G. M.; Muglia, M.; Boaretto, F.; Vettori, A.; Rizzuto, R.; Mostacciuolo, M. L.; Vazza, G./titolo:Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling/doi:10.1093%2Fhmg%2Fddw220/rivista:Human molecular genetics (Print)/anno:2016/pagina_da:3741/pagina_a:3753/intervallo_pagine:3741–3753/volume:25
Europe PubMed Central

مصطلحات موضوعية: Male, 0301 basic medicine, Genotyping Techniques, SIGMAR1 gene, Mitochondrion, Endoplasmic Reticulum, distal hereditary motor neuropathy, 0302 clinical medicine, Ca2+ signalling, Genetics (clinical), Exome sequencing, Genetics, General Medicine, Pedigree, medicine.anatomical_structure, Italy, whole-genome sequencing, Mitochondrial Membranes, Female, Signal transduction, Adult, calcium signalling, Cell Survival, Biology, Polymorphism, Single Nucleotide, Cell Line, 03 medical and health sciences, p.E138Q, p.E150K, mitochondria-associated ER membrane, medicine, Humans, Receptors, sigma, Genetic Predisposition to Disease, Calcium Signaling, Molecular Biology, Gene, Loss function, Genetic heterogeneity, Autophagy, Sequence Analysis, DNA, Motor neuron, ER-mitochondria contacts, 030104 developmental biology, sigma-1 receptor, mutation, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b46020ad1526ebcde582f0146b27860
http://www.cnr.it/prodotto/i/368774

المؤلفون: Elisa Taschin, Giacomo Pavesi, Francesca Schiavi, Elisabetta Zanoletti, Bruno Scarpa, Francesca Boaretto, Mariagiulia Anglani, Mario Gardi, Alessandra Murgia, Giuseppe Opocher, Stefano Piermarocchi, Alberto Feletti, Stefania Zovato

مصطلحات موضوعية: Male, Cancer Research, von Hippel-Lindau Disease, endocrine system diseases, Clinical Investigations, Disease, urologic and male genital diseases, Bioinformatics, Pheochromocytoma, 03 medical and health sciences, Disability Evaluation, 0302 clinical medicine, Quality of life, VHL, Hemangioblastoma, medicine, follow-up, Humans, Prospective Studies, Von Hippel–Lindau disease, neoplasms, disability, functional impairment, natural history, business.industry, Cancer, medicine.disease, female genital diseases and pregnancy complications, disability, follow-up, functional impairment, natural history, VHL, Natural history, Oncology, 030220 oncology & carcinogenesis, Mutation, Disease Progression, Quality of Life, Female, Neurology (clinical), business, VHL Gene Mutation, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e94dc4bc252fcdf6cdb8952af471c93
http://hdl.handle.net/11562/1013731

المؤلفون: Francesca, Boaretto, Deborah, Snijders, Cecilia, Salvoro, Ambra, Spalletta, Maria Luisa, Mostacciuolo, Mirella, Collura, Salvatore, Cazzato, Donatella, Girosi, Michela, Silvestri, Giovanni Arturo, Rossi, Angelo, Barbato, Giovanni, Vazza

مصطلحات موضوعية: Adult, Genetic Markers, Male, Adolescent, DNA Mutational Analysis, Molecular Medicine, Young Adult, Humans, Genetic Predisposition to Disease, Genetic Testing, Child, Genetic Association Studies, Aged, Kartagener Syndrome, High-Throughput Nucleotide Sequencing, Infant, Axonemal Dyneins, Middle Aged, Phenotype, Italy, Child, Preschool, Mutation, Female, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::2709da516a2c7268c194919724c29e95
http://hdl.handle.net/11577/3215325

المؤلفون: Irene Colombo, Monica Sciacco, Maurizio Moggio, Stefania Zovato, Silvia Rizzati, Alfonso Massimiliano Ferrara, Francesca Boaretto, Giuseppe Opocher

المصدر: Cancer Research and Treatment : Official Journal of Korean Cancer Association

مصطلحات موضوعية: 0301 basic medicine, Male, Cancer Research, Pathology, medicine.medical_specialty, von Hippel-Lindau Disease, endocrine system diseases, Case Report, Disease, Gene mutation, urologic and male genital diseases, Gastroenterology, Rhabdomyolysis, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Neoplasms, medicine, Humans, Renal Insufficiency, Von Hippel–Lindau disease, Family history, Child, neoplasms, Carnitine O-Palmitoyltransferase, business.industry, Myoglobinuria, Homozygote, Acute kidney injury, Muscle weakness, medicine.disease, female genital diseases and pregnancy complications, 030104 developmental biology, Carnitine palmitoyltransferase type II, Oncology, Von Hippel-Lindau Tumor Suppressor Protein, 030220 oncology & carcinogenesis, Mutation, medicine.symptom, business, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29ffbcce88a6f147c9f5daf34986421f
https://pubmed.ncbi.nlm.nih.gov/27034144

المؤلفون: Giovanni Vazza, E. Scudellaro, Giulia Perini, Sabina Rampinelli, P. Peruzzi, Cinzia Bertolin, Andrea Vettori, G De Sanctis, Francesca Boaretto, Maria Luisa Mostacciuolo

المصدر: Molecular Psychiatry. 12:87-93

مصطلحات موضوعية: Genetic Markers, Male, NONPARAMETRIC LINKAGE ANALYSIS, Bipolar Disorder, Genotype, Genetic Linkage, Population, Single-nucleotide polymorphism, genome scan, SCHIZOAFFECTIVE DISORDER, SHARED SUSCEPTIBILITY, COMPLEX TRAITS, Chromosomes, Genetic determinism, Cellular and Molecular Neuroscience, Gene Frequency, Gene mapping, Genetic linkage, mental disorders, medicine, Humans, linkage analysis, Genetic Predisposition to Disease, Bipolar disorder, schizophrenia, bipolar disorder, gene mapping, Chromosome Mapping, Female, Follow-Up Studies, Italy, Schizophrenia, Chromosomes, Human, Pair 15, Genomics, education, Molecular Biology, Allele frequency, Genetics, education.field_of_study, Pair 15, medicine.disease, Psychiatry and Mental health, Genetic marker, Psychology, Human

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39ff8412bd06be105183e4ead3432ad4
https://doi.org/10.1038/sj.mp.4001895

المؤلفون: D. De Santo, Francesca Boaretto, Laura Braida, Doroti Pirulli, Secondo Guaschino, Sergio Crovella, F. De Seta, Michele Boniotto, Antonio Amoroso

المصدر: Clinical and Experimental Medicine. 2:1-6

مصطلحات موضوعية: In situ, virus diseases, General Medicine, Biology, Cervical intraepithelial neoplasia, medicine.disease, biology.organism_classification, Virology, Molecular biology, General Biochemistry, Genetics and Molecular Biology, HeLa, Polymerase chain reaction optimization, chemistry.chemical_compound, Real-time polymerase chain reaction, chemistry, SYBR Green I, medicine, Propidium iodide, Papillomaviridae

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f9c54c4ee4da368b90b637b99e159559
https://doi.org/10.1007/s102380200000

المؤلفون: F. Azzolin, L. Biasini, Ardi Pambuku, M. Lorusso, Giuseppe Opocher, Giuseppe Lombardi, Francesca Boaretto, F. Schiavi, M.A. Ferrara, Vittorina Zagonel, Stefania Zovato

المصدر: Annals of Oncology. 28:v156

مصطلحات موضوعية: Oncology, Malignant Pheochromocytoma, medicine.medical_specialty, Temozolomide, business.industry, Retrospective cohort study, Hematology, medicine.disease, Paraganglioma, Internal medicine, medicine, In patient, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ae38fd83551e3d24c7f3ba20e99dd185
https://doi.org/10.1093/annonc/mdx368.040