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Sfoglia per ???browse.type.metadata.subjectErc2011???  LS2_9 - Genetic epidemiology

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Mostrati risultati da 31 a 50 di 139
Data di pubblicazione Titolo Autore(i) File
1-gen-2009 Defective loxytocin function: a clue to understanding the cause of autism? Neri, Giovanni; Gurrieri, Fiorella
1-gen-2015 Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD) Lattante, Serena; Ciura, S; Rouleau, Ga; Kabashi, E.
1-gen-2021 Detection of Pitt–Hopkins syndrome based on morphological facial features D'Amato, E.; Reyes-Aldasoro, C. C.; Consiglio, A.; D'Amato, G.; Faienza, M. F.; Zollino, Marcella
1-gen-2020 Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes Mulder, P. A.; van Balkom, I. D. C.; Landlust, A. M.; Priolo, M.; Menke, L. A.; Acero, I. H.; Alkuraya, F. S.; Arias, P.; Bernardini, L.; Bijlsma, E. K.; Cole, T.; Coubes, C.; Dapia, I.; Davies, S.; Di Donato, N.; Elcioglu, N. H.; Fahrner, J. A.; Foster, A.; Gonzalez, N. G.; Huber, I.; Iascone, M.; Kaiser, A. -S.; Kamath, A.; Kooblall, K.; Lapunzina, P.; Liebelt, J.; Lynch, S. A.; Maas, S. M.; Mammi, C.; Mathijssen, I. B.; Mckee, S.; Mirzaa, G. M.; Montgomery, T.; Neubauer, D.; Neumann, T. E.; Pintomalli, L.; Pisanti, M. A.; Plomp, A. S.; Price, S.; Salter, C.; Santos-Simarro, F.; Sarda, P.; Schanze, D.; Segovia, M.; Shaw-Smith, C.; Smithson, S.; Suri, M.; Tatton-Brown, K.; Tenorio, J.; Thakker, R. V.; Valdez, R. M.; Van Haeringen, A.; Van Hagen, J. M.; Zenker, M.; Zollino, Marcella; Dunn, W. W.; Piening, S.; Hennekam, R. C.
1-gen-2008 Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour. Sparago, A; Verde, G; De Crescenzo, A; Citro, V; Cubellis, Mv; Rinaldi, Mm; Boccuto, Luigi; Neri, Giovanni; Magnani, C; D'Angelo, P; Collini, P; Perotti, D; Sebastio, G; Maher, R; Riccio, A.
1-gen-2011 Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. Herholz, J; Meloni, A; Marongiu, M; Chiappe, F; Deiana, M; Herrero, Cr; Zampino, Giuseppe; Hamamy, H; Zalloum, Y; Waaler, Pe; Crisponi, G; Crisponi, L; Rutsch, F.
1-gen-2015 Directional dominance on stature and cognition in diverse human populations Gambaro, Giovanni; Et Al, Consortium
1-gen-2018 Dissecting the Wolf–Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism Zollino, Marcella; Doronzio, P. N.
1-gen-2009 down syndrome:comments and reflections on the 50th anniversary of Lejeune's discovery Neri, Giovanni; Opitz, John
1-gen-2009 Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case Veredice, Chiara; Bianco, Flaviana; Contaldo, Ilaria; Orteschi, Daniela; Stefanini, Maria Chiara; Battaglia, Domenica Immacolata; Lettori, Donatella; Guzzetta, Francesco; Zollino, Marcella
1-gen-2013 Effect of Proinflammatory Gene Polymorphisms on the Risk of Alzheimer's Disease. Flex, Andrea; Giovannini, Silvia; Biscetti, Federico; Liperoti, Rosa; Landi, Francesco; Bernabei, Roberto
1-gen-2011 Efficacy and tolerability of 5-aminolevulinic acid 0.5% liposomal spray and intense pulsed light in wrinkle reduction of photodamaged skin Piccioni, A; Fargnoli, Mc; Schoinas, S; Suppa, M; Frascione, P; Ginebri, A; Chimenti, S; Peris, Ketty
1-gen-2018 Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review Greco, M.; Ferrara, Pietro; Farello, G.; Striano, P.; Verrotti, A.
1-gen-2009 Elements of morphology: standard terminology for the head and face. Neri, Giovanni; Allanson, Judith E; Cuniff, Christopher; Homme, Eugene H; Mcgaughran, Julie; Muenke, Max
1-gen-2013 Encomium: Giovanni Neri--polyhedral and down-to-earth mentor Genuardi, Maurizio; Gurrieri, Fiorella; Zollino, Marcella
1-gen-2013 Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype Cordelli, Dm; Garavelli, L; Savasta, S; Guerra, A; Pellicciari, A; Giordano, L; Bonetti, S; Cecconi, I; Wischmeijer, A; Seri, M; Rosato, S; Gelmini, C; Della Giustina, E; Ferrari, Ar; Zanotta, N; Epifanio, R; Grioni, D; Malbora, B; Mammi, I; Mari, F; Buoni, S; Mostardini, R; Grosso, S; Pantaleoni, C; Doz, M; Poch Olivé, Ml; Rivieri, F; Sorge, G; Simonte, G; Licata, F; Tarani, L; Terazzi, E; Mazzanti, L; Cerruti Mainardi, P; Boni, A; Faravelli, F; Grasso, M; Bianchi, P; Zollino, Marcella; Franzoni, E.
1-gen-2013 Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients Giovannini, Silvia; Marangio, L; Fusco, C; Scarano, A; Frattini, D; Della Giustina, E; Zollino, Marcella; Neri, Giovanni; Gobbi, G.
1-gen-2009 Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia Liu, K; Martini, Maurizio; Rocca, Bianca; Amos, Ci; Teofili, Luciana; Giona, F; Ding, J; Komatsu, H; Larocca, Luigi Maria; Skoda, Rc
1-gen-2016 Fibroblast growth factor 23 serum level in type 2 diabetic italian subjects with peripheral arterial disease and critical limb ischemia. Biscetti, Federico; Straface, Giuseppe; Pitocco, Dario; Angelini, Flavia; Tinelli, Giovanni; Landolfi, Raffaele; Flex, Andrea
1-gen-2013 Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T > C:p.F417S) and unusual spinal anomaly Garavelli, L; Simonte, G; Rosato, S; Wischmeijer, A; Albertini, E; Guareschi, E; Longo, C; Albertini, G; Gelmini, C; Greco, C; Errico, S; Pavanello, M; Happle, R; Unger, S; Superti Furga, A; Grzeschik, K; Savino, Gustavo
Mostrati risultati da 31 a 50 di 139
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