المؤلفون: MINETTO, MARCO ALESSANDRO, BOTTER, ALBERTO, MERLETTI, Roberto, R. Ravenni, D. De Grandis

المساهمون: Minetto, MARCO ALESSANDRO, Botter, Alberto, R., Ravenni, Merletti, Roberto, D., De Grandis

Relation: info:eu-repo/semantics/altIdentifier/isbn/9789517902427; ispartofbook:Titolo volume non avvalorato; XII Annual Congress of the European College of Sport Science; http://hdl.handle.net/11583/2504646

الاتاحة: http://hdl.handle.net/11583/2504646

المؤلفون: M. Neri, C. Scotton, D. De Grandis, T. Castrignanò, B. Dallapiccola, F. Gualandi, FERLINI, Alessandra, BOVOLENTA, Matteo

المساهمون: M., Neri, Bovolenta, Matteo, C., Scotton, D., De Grandi, T., Castrignanò, B., Dallapiccola, F., Gualandi, Ferlini, Alessandra

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000310103600020; ispartofbook:Neuromuscular Disorders; World muscle society; volume:22; firstpage:810; lastpage:810; http://hdl.handle.net/11392/1894014

الاتاحة: http://hdl.handle.net/11392/1894014
https://doi.org/10.1016/j.nmd.2012.06.029

المؤلفون: F. Gualandi, S. Brioschi, FALZARANO, Maria Sofia, A. Armaroli, C. Trabanelli, P. Rimessi, L. Merlini, E. Mercuri, M. Pane, E. Bertini, A. D’Amico, G. Siciliano, S. Tedeschi, A. Pini, D. De Grandis, T. Mongini, FERLINI, Alessandra, BOVOLENTA, Matteo

المساهمون: F., Gualandi, S., Brioschi, Falzarano, Maria Sofia, Bovolenta, Matteo, A., Armaroli, C., Trabanelli, P., Rimessi, L., Merlini, E., Mercuri, M., Pane, E., Bertini, A., D’Amico, G., Siciliano, S., Tedeschi, A., Pini, D., De Grandi, T., Mongini, Ferlini, Alessandra

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000295955900028; ispartofbook:Neuromuscular Disorders; World Muscle Society; volume:21; firstpage:647; lastpage:647; http://hdl.handle.net/11392/1894017

الاتاحة: http://hdl.handle.net/11392/1894017
https://doi.org/10.1016/j.nmd.2011.06.779

المؤلفون: M. Chinaglia, D. De Grandis, P. Cudia, F. Brazzo, Roberta Ravenni, P. Passadore

المصدر: Neuromuscular Disorders. 15:565-568

مصطلحات موضوعية: medicine.medical_specialty, Hearing loss, Hearing Loss, Sensorineural, Neural Conduction, Disease, Audiology, Functional Laterality, Brown–Vialetto–Van Laere syndrome, medicine, Humans, Motor Neuron Disease, Family history, Genetics (clinical), Family Health, business.industry, Middle Aged, Motor neuron, Neurophysiology, medicine.disease, Cranial Nerve Diseases, medicine.anatomical_structure, Neurology, Respiratory failure, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, Follow-Up Studies, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47d42d5213fcaf8cf519891f977ebf5f
https://doi.org/10.1016/j.nmd.2005.05.003

المؤلفون: Gabriele Siciliano, Giacomo Belli, Mario Mascalchi, D. De Grandis, R. Della Nave, Alessandro Filla, Andrea Ginestroni, R. Plasmati, S Foresti, Silvia Piacentini, Francesco Lolli, Laura Guerrini, Fabrizio Salvi, Carlo Tessa, Mirco Cosottini

المساهمون: Guerrini, L, Lolli, F, Ginestroni, A, Belli, G, Della Nave, R, Tessa, C, Foresti, S, Cosottini, M, Piacentini, S, Salvi, F, Plasmati, R, De Grandis, D, Siciliano, G, Filla, Alessandro, Mascalchi, M.

المصدر: Brain. 127:1785-1795

مصطلحات موضوعية: Adult, Male, Cerebellum, Magnetic Resonance Spectroscopy, Ataxia, Severity of Illness Index, magnetic resonance spectroscopy N-acetyl-aspartate, spinocerebellar ataxia, Pons, Cerebellar hemisphere, Humans, Spinocerebellar Ataxias, magnetic resonance imaging, Medicine, diffusion, Aged, Aspartic Acid, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, Middle Aged, Creatine, medicine.disease, medicine.anatomical_structure, nervous system, Spinocerebellar ataxia, Female, Neurology (clinical), Brainstem, medicine.symptom, business, Nuclear medicine, Biomarkers, Brain Stem, Diffusion MRI

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bc2247f46e053ada3273032dd0f00ab
https://doi.org/10.1093/brain/awh201

المؤلفون: MINETTO, MARCO ALESSANDRO, BOTTER, ALBERTO, MERLETTI, Roberto, D. De Grandis

المساهمون: Minetto, MARCO ALESSANDRO, Botter, Alberto, D., De Grandi, Merletti, Roberto

Relation: ispartofbook:Titolo volume non avvalorato; XVIIth Congress of the International Society of Electrophysiology and Kinesiology; http://hdl.handle.net/11583/2504643

الاتاحة: http://hdl.handle.net/11583/2504643

المؤلفون: V TUGNOLI, MARCHESE RAGONA R., R ELEOPRA, D DE GRANDIS.

المساهمون: V, Tugnoli, MARCHESE RAGONA, R., R, Eleopra, D DE, Grandis.

Relation: info:eu-repo/semantics/altIdentifier/isbn/001400; EEG and Clinical Neurophysiology. 14th International Congress; volume:103; firstpage:59; lastpage:59; numberofpages:59; http://hdl.handle.net/11577/3325552

الاتاحة: http://hdl.handle.net/11577/3325552

المؤلفون: Francesca Gualandi, J.G. Capone, Alessandra Ferlini, Vittorio Rispoli, Valeria Tugnoli, Vincenzo Donadio, Rocco Liguori, D. De Grandis, Elisabetta Sette, V. Simioni, Stefania Bigoni

المصدر: Clinical Neurophysiology. 128:e432

مصطلحات موضوعية: Proband, Pathology, medicine.medical_specialty, medicine.diagnostic_test, business.industry, ATP7A, Occipital horn syndrome, medicine.disease, Phenotype, Sensory Systems, medicine.anatomical_structure, Neurology, Physiology (medical), Skin biopsy, medicine, Missense mutation, Menkes disease, Neurology (clinical), Neuron, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b18d4225defcf747dea1ebd5fc93f071
https://doi.org/10.1016/j.clinph.2017.09.079

المؤلفون: R. Nemni, L. M. Caniatti, M. Gironi, E. Bazzigaluppi, D. De Grandis

المساهمون: R. Nemni, L.M. Caniatti, M. Gironi, E. Bazzigaluppi, D. De Grandis

مصطلحات موضوعية: autoimmunità, GAD, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/15184624; info:eu-repo/semantics/altIdentifier/wos/WOS:000221890400038; volume:62; issue:11; firstpage:2101; lastpage:2102; journal:NEUROLOGY; http://hdl.handle.net/2434/15965; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-2942527647

الاتاحة: http://hdl.handle.net/2434/15965
https://doi.org/10.1212/01.WNL.0000127446.61806.2F

المؤلفون: Francesca Gualandi, Markus Storbeck, C. Scotton, D. De Grandis, Alessandra Ferlini, F. Di Raimo, E. Italyankina, K. Vezyroglou, Vincent Timmerman, A. Mauro, Brunhilde Wirth, R. Heller, Valeria Tugnoli, Marcella Neri

المصدر: Neuromuscular Disorders. 25:S224-S225

مصطلحات موضوعية: Genetics, Neurology, business.industry, Pediatrics, Perinatology and Child Health, ATP7A, Mutation (genetic algorithm), Medicine, Neurology (clinical), business, Motor neuropathy, Genetics (clinical), DNA sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0fe1b14caae4273adac6941c47101b97
https://doi.org/10.1016/j.nmd.2015.06.146

المؤلفون: V. Beltrame, Irene Toldo, Stefano Sartori, G. Vigo, D. De Grandis, Agnese Suppiej

المصدر: European Journal of Paediatric Neurology. 19:S68-S69

مصطلحات موضوعية: medicine.medical_specialty, Renal ectopia, medicine.diagnostic_test, business.industry, Neurological examination, General Medicine, Anatomy, Electromyography, medicine.disease, Hypoplasia, Surgery, body regions, Spina bifida occulta, medicine.anatomical_structure, Agenesis, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Gluteal muscles, business, Pelvis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::17e752009847051f660541e39410dc7c
https://doi.org/10.1016/s1090-3798(15)30226-9

المؤلفون: M. Santangelo, Antonio P. Strafella, D. Lucchi, A. Tropeani, Rocco Quatrale, D. De Grandis, F. Valzania, Carlo Alberto Tassinari

المصدر: Electroencephalography and Clinical Neurophysiology/Electromyography and Motor Control. 105:37-43

مصطلحات موضوعية: Male, Parkinson's disease, Differential Threshold, Stimulation, Electromyography, Stimulus (physiology), Inhibitory postsynaptic potential, Levodopa, Magnetics, medicine, Humans, Evoked potential, Aged, Cerebral Cortex, medicine.diagnostic_test, business.industry, General Neuroscience, Parkinson Disease, Middle Aged, Evoked Potentials, Motor, medicine.disease, Electric Stimulation, medicine.anatomical_structure, Female, Silent period, Neurology (clinical), business, Neuroscience, Motor cortex

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::953eb7732fbe4ccbf4981d42ed91b3f8
https://doi.org/10.1016/s0924-980x(96)96517-0

المؤلفون: L. J. Andries, S. U. Sys, A. L. Meulemans, J. A. J. Schuurkes, B. Vanheel, J. Van de Voorde, P. De Smet, J. Li, W. Van Driessche, B. Flamion, S. Foulon, M. Abramow, P. Calders, W. Eechaute, E. Lacroix, I. Weyne, D. Hoeben, C. Burvenich, P. Fransen, D. Van Bedaf, M. Demolder, R. Ouedraogo, P. Lebrun, A. Herchuelz, M. -H. Antoine, S. Vandenput, D. Votion, N. Anciaux, D. H. Duvivier, T. Art, P. Lekeux, Y. Ghafir, M. Geurts, E. Hermans, J. -M. Maloteaux, B. Perrad, B. Noel, F. Lagache, J. L. Bister, R. Paquay, G. Derycke, M. A. Vandermeir, S. de Brouwer, C. -A. Porret, N. Stergiopulos, J. -J. Meister, M. Verbeke, N. Lameire, N. M. De Clerck, J. De Schuytter, J. Tytgato, G. Buyse, J. Eggermont, G. Droogmans, B. Nilius, P. Daenens, S. Salomone, O. Feron, C. Dessy, N. Morel, T. Godfraind, A. M. Aloisi, P. Sacerdote, L. Lodi, G. Carli, C. Carobi, G. Garinei, U. C. Miniaci, P. Scotto, M. Sabatino, P. Sardo, L. Iurato, V. La Grutta, M. A. Bagni, G. Cecchi, E. Cecchini, F. Colomo, P. Garzella, R. Bottinelli, S. D. H. Harridge, M. Canepari, C. Reggiani, Saltin Reggiani, D. Bambagioni, G. Fanò, G, Menchetti, P. Danieli-Betto, A. Esposito, R. Betto, A. Megighian, M. Midrio, D. Danieli Betto, C. Orizio, D. Liberati, C. Locatelli, D. De Grandis, A. Veicsteinas, D. Angoli, D. Delia, E. Wanke, M. Bramucci, A. Miano, L. Quassinti, E. Maccari, O. Murri, D. Amici, G. Cibelli, S. Jüngling, S. Schoch, H. H. Gerdest, G. Thiel, I. Demori, C. Bottazzi, A. Voci, E. Fugassa, A. Barreca, F. Minuto, G. Gallo, S. Fulle, S. Belia, G. Menchetti, M. Cacchio, G. Gastaldi, U. Laforenza, G. Ferrari, G. Rindi, M. G. Doni, E. Padoin, O. Residori, M. Cesaro, L. Toma, A. Rubini, F Mutinelli, L. Paulesu, R. Romagnolie, M. Cintorino, P. Pippia, M. A. Meloni, L. Sciola, A. Spano, M. Cogoli-Greuter, A. Cogoli, A. Sardini, G. M. Mintenig, M. A. Valverde, F. V. Sepùlveda, D. R. Gill, S. C. Hyde, C. F. Higgins, P. A. McNaughton, A. Spena, M. T. Arcuri, S. Bonofiglio, R. Chimenti, C. Covello, T. De Cicco, S. Mazzulla, G. Martino, A. Tottene, A. Moretti, D. Pietrobon, M. C. Baccari, F. Calamai, G. Staderini, E. Cova, R. Marelli, P. Sommi, U. Ventura, A. M. Lombardi, R. Fabris, C. Pagano, G. Federspil, R. Vettor, R. Mancinelli, P. Tonali, S. Servidei, R. Romani, A. Tringali, G. B. Azzena, F. Mulè, R. Serio, A. Postorino, M. Rizzato, M. Granzotto, V. Ricci, M. Romano, K. J. Ivey, G. Vacca, B. Papillo, D. A. S. G. Mary, A. Battaglia, E. Grossini, E. A. Accili, G. Redaelli, D. DiFrancesco, S. Antoniotti, C. Distasi, D. Lovisolo, L. Munaron, F. Bertaso, R. Assandri, M. Mazzanti, L. Bianchi, A. Arcangeli, L. Faravelli, A. Becchetti, M. Coronello, E. Mini, F. Francini, M. Olivotto, A. Bigiani, D. -J. Kim, S. D. Roper, V. Carabelli, M. Lovallo, V. Magnelli, H. Zucker, E. Carbone, E. D’Angelo, P. Rossi, G. De Filippi, V. Taglietti, C. Bencini, R. Squecco, E. Guatteo, A. Bacci, S. Franceschetti, G. Avanzini, A. Ferroni, A. Navangione, V. Vellani, G. Rispoli, A. Peres, E. Centinaio, S. Giovannardi, G. Russo, W. Marcotti, I. Prigioni, C. Trequattrini, A. A. Harper, A. Petris, F. Franciolini, A. Zaza, M. Micheletti, A. Brioschi, G. Antonutto, C. Capelli, M. Girardis, P. Zamparo, P. E. di Prampero, D. Tuniz, G. M. Filippi, D. Troiani, B. Grassi, D. C. Poole, R. S. Richardson, D. R. Knight, B. K. Erickson, P. D. Wagner, B. Aimi, D. Stilli, P. Gallo, A. Sgoifo, C. Lagrasta, G. Olivetti, N. Reali, A. Casti, E. Musso, G. Alloatti, C. Penna, M. P. Gallo, R. C. Levi, I. Fenoglio, G. Appendino, D. Medici, M. Manghi, E. Pasini, C. Ceconi, F. Baldissera, P. Cavallari, M. Locatelli, R. Bartesaghi, T. Gessi, F. Benfenati, F. Valtorta, F. Onofri, M. Poo, P. Greengard, G. Biagini, D. Sala, P. Viani§, A. V. Kozlov, I. Zini, M. Bravin, F. Tempia, P. Strata, G. Brescia, C. Di Benedetto, P. Corsi, G. Cangiano, M. Buttiglione, M. Ambrosini, G. Gennarini, A. Casadio, P. G. Montarolo, P. Cesare, R. Stoughton, G. D’Arcangelo, H. U. Dodt, A. Brancati, W. Zieglgänsberger, P. Errico, A. Ferraresi, N. H. Barmack, V. E. Pettorossi, S. Gasparini, R. D’Ambrosio, D. Janigro, I. Gritti, M. Marintti, R. Calcaterra, R. Freddi, M. Mancia, I. Imeri, S. Bianchi, F. Lui, K. M. Gregory, R. H. I. Blanks, R. A. Giolli, C. Benassi, R. Corazza, P. C. Magherini, R. Bardoni, O. Belluzzi, E. Manni, M. Diana, W. Fratta, D. Manzoni, P. Andre, O. Pompeiano, R. Mazzocchio, A. Rossi, F. Melis, A. Kitura, M. A. Caria, H. Asanuma, M Melone, S De Biasi, A Minelli, F Conti, C Karschin, S DeBiasi, N C Brecha, M. Monda, S. Amaro, A. Sullo, B. De Luca, M. R. Pantò, F. Cicirata, R. Parenti, M. F. Serapide, M. Wassef, M. V. Podda, A. Solinas, G. Chessa, F. Deriu, O. Mameli, E. Tolu, C. A. Porro, M. P. Francescato, V. Cettolo, M. E. Diamond, P. Baraldi, M. Bazzocchi, R. Rivosecchi, A. Konnerth, M. L. Rossi, M. Martini, B. Pelucchi, R. Fesce, L. Santarelli, S. Schacher, R. Santarelli, C. Grassi, A. Valente, S. Nisticò, G. Bagetta, Rossana Scuri, Mercedes Garcia-Gil, Riccardo Mozzachiodi, Marcello Brunelli, G. Stefani, P. Vaccaro, H. B. Nielander, V. Tancredi, M. D’Antuono, A. Siniscalchi, M. Avoli, L. Verzè, A. Buffo, F. Rossi, A. B. Oestreicher, W. H. Gispen, G. Zamboni, R. Amici, C. A. Jones, E. Perez, R. Domeniconi, P. L. Parmeggiani, Michele Zoli, Nicolas Le Novàre, Jean -Pierre Changeux, C. L. Lafortuna, E. Reinach, F. Saibene, L. Zocchi, E. Agostoni, D. Cremaschi

المصدر: Pflügers Archiv. 431:R322-R356

مصطلحات موضوعية: Physiology, Physiology (medical), Clinical Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::725ea0729a155631546fd74d6b1e6a17
https://doi.org/10.1007/bf03036120

المؤلفون: M. Gherardi, F. D'Orsi, E. Pietrantonio, D. De Grandis, M. Fioretti, CURINI, Roberta, MARCHESE, Stefano, PERRET, Daniela

المساهمون: M., Gherardi, Curini, Roberta, F., D'Orsi, E., Pietrantonio, Marchese, Stefano, Perret, Daniela, D., De Grandi, M., Fioretti

مصطلحات موضوعية: dangerous chemical, risk assessment

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000293814500676; 47th Congress of the European-Societies-of-Toxicology; volume:205; issue:1; firstpage:S212; lastpage:S212; numberofpages:1; journal:TOXICOLOGY LETTERS; http://hdl.handle.net/11573/390120; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000293814500676&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a

الاتاحة: http://hdl.handle.net/11573/390120
https://doi.org/10.1016/j.toxlet.2011.05.728
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000293814500676&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a

المؤلفون: Francesca Gualandi, Alessandra Ferlini, C. Scotton, Nicolas Lévy, D. De Grandis, Cecilia Trabanelli, Marcella Neri, Rita Selvatici, Annarita Armaroli

المصدر: Neuromuscular Disorders; Vol 23

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Heterozygote, Ubiquitin-Protein Ligases, Nonsense mutation, Tripartite Motif Proteins, 03 medical and health sciences, 0302 clinical medicine, Medicine, Humans, Muscular dystrophy, Allele, Gene, Genetics (clinical), 030304 developmental biology, Sequence Deletion, Genetics, 0303 health sciences, Comparative Genomic Hybridization, Muscle biopsy, medicine.diagnostic_test, business.industry, Heterozygote advantage, medicine.disease, Phenotype, Neurology, Muscular Dystrophies, Limb-Girdle, Codon, Nonsense, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy, Comparative genomic hybridization, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4e9ddb883a20d8eb132fa8d7ac096c7
https://pubmed.ncbi.nlm.nih.gov/23541687

المؤلفون: Rocco Quatrale, M. Santangelo, R. Bombardi, F. Valzania, D. De Grandis, Carlo Alberto Tassinari, Antonio P. Strafella

المصدر: Electroencephalography and Clinical Neurophysiology/Evoked Potentials Section. 93:312-317

مصطلحات موضوعية: Adult, Male, Electromyography, Chemistry, Muscles, General Neuroscience, Interstimulus interval, medicine.medical_treatment, Stimulus (physiology), Inhibitory postsynaptic potential, Transcranial Magnetic Stimulation, Transcranial magnetic stimulation, Electrophysiology, medicine.anatomical_structure, Electromagnetic coil, Reaction Time, medicine, Humans, Female, Neurology (clinical), Evoked potential, Evoked Potentials, Neuroscience, Motor cortex

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7234190c48a6a9b837f5e36197fbe412
https://doi.org/10.1016/0168-5597(94)90034-5

المؤلفون: Cecilia Trabanelli, Maria Sofia Falzarano, Tiziana Mongini, Alessandra Ferlini, S. Brioschi, Luciano Merlini, Alessandra D'Amico, Marika Pane, E. Bertini, D. De Grandis, Gabriele Siciliano, Silvana Tedeschi, Francesca Gualandi, Matteo Bovolenta, Antonella Pini, Eugenio Mercuri, Annarita Armaroli, Paola Rimessi

مصطلحات موضوعية: Genetics, Correlation, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Allele, Biology, Molecular biology, Genetics (clinical), X-inactivation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50901b5de7cde844b17197957817cf12
http://hdl.handle.net/11392/1894017

المؤلفون: F. D’Orsi, Marzia Fioretti, D. De Grandis, Stefano Marchese, E. Pietrantonio, Daniela Perret, Roberta Curini, M. Gherardi

مصطلحات موضوعية: Health risk assessment, business.industry, Environmental health, Medicine, risk assessment, General Medicine, dangerous chemicals, Toxicology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7907dc0ec19e21f44328f8b500cf42b1
http://hdl.handle.net/11573/390120

المؤلفون: TUPLER, Rossella, L. BARBIERATO, M. MEMMI, C. A. SEWRY, D. DE GRANDIS, P. MARASCHIO, L. TIEPOLO, A. FERLINI

المساهمون: Tupler, Rossella, L., Barbierato, M., Memmi, C. A., Sewry, D., DE GRANDIS, P., Maraschio, L., Tiepolo, A., Ferlini

مصطلحات موضوعية: discordant twin, FSHD, phenotypic characterization

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/9733041; info:eu-repo/semantics/altIdentifier/wos/WOS:000075595700016; volume:35; firstpage:778; lastpage:783; numberofpages:6; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11380/459454; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0031847822

الاتاحة: http://hdl.handle.net/11380/459454

المؤلفون: Angela Huebner, Liborio Stuppia, Rossella Giuliani, Francesco Brancati, Alessandra Ferlini, Francesco Chiarelli, O Calabrese, D. De Grandis, A. Di Muzio, Angelika Mohn, Chiara Palka

مصطلحات موضوعية: Genetics, Male, Allgrove Syndrome, Nerve Tissue Proteins, Biology, Gene mutation, Phenotype, Esophageal Achalasia, Nuclear Pore Complex Proteins, Humans, Abnormalities, Multiple, Female, Allele, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f1171c3c004daed963fe7ca0e242060
http://hdl.handle.net/11697/122722