IRIS PubliCatt

Sfoglia per ???browse.type.metadata.subjectErc2011???  

Opzioni
Vai a: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Mostrati risultati da 21 a 40 di 139
Data di pubblicazione Titolo Autore(i) File
1-gen-2014 CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases Wenger, Tl; Harr, M; Ricciardi, Stefania; Bhoj, E; Santani, A; Adam, Mp; Barnett, Ss; Ganetzky, R; Mcdonald Mcginn, Dm; Battaglia, Domenica Immacolata; Bigoni, S; Selicorni, A; Sorge, G; Monica, Md; Mari, F; Andreucci, E; Romano, S; Cocchi, G; Savasta, S; Malbora, B; Marangi, Giuseppe; Garavelli, L; Zollino, Marcella; Zackai, Eh
1-gen-2015 CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients Chiò, A; Mora, G; Sabatelli, Mario; Caponnetto, C; Traynor, Bj; Johnson, Jo; Nalls, Ma; Calvo, A; Moglia, C; Borghero, G; Monsurrò, Mr; La Bella, V; Volanti, P; Simone, I; Salvi, F; Logullo, Fo; Nilo, R; Battistini, S; Mandrioli, J; Tanel, R; Murru, Mr; Mandich, P; Zollino, Marcella; Conforti, Fl; Brunetti, M; Barberis, M; Restagno, G; Penco, S; Lunetta, C; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe
1-gen-2015 Chief Medical Officers meeting on implementing a public health genomics approach Boccia, Stefania; Ricciardi, Gualtiero; Federici, Antonio; Ranieri, Guerra
1-gen-2017 Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes Loviglio, M. N.; Leleu, M.; Männik, K.; Passeggeri, M.; Giannuzzi, G.; Van Der Werf, I.; Waszak, S. M.; Zazhytska, M.; Roberts-Caldeira, I.; Gheldof, N.; Migliavacca, E.; Alfaiz, A. A.; Hippolyte, L.; Maillard, A. M.; Zollino, Marcella; Van Dijck, A.; Kooy, R. F.; Sanlaville, D.; Rosenfeld, J. A.; Shaffer, L. G.; Andrieux, J.; Marshall, C.; Scherer, S. W.; Shen, Y.; Gusella, J. F.; Thorsteinsdottir, U.; Thorleifsson, G.; Dermitzakis, E. T.; Deplancke, B.; Beckmann, J. S.; Rougemont, J.; Jacquemont, S.; Reymond, A.
1-gen-2009 Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. Neri, Giovanni; Moscarda, Marco
1-gen-2015 Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients Panagiotakaki, E; De Grandis, E; Stagnaro, M; Heinzen, El; Fons, C; Sisodiya, S; De Vries, B; Goubau, C; Weckhuysen, S; Kemlink, D; Scheffer, I; Lesca, G; Rabilloud, M; Klich, A; Ramirez Camacho, A; Ulate Campos, A; Campistol, J; Giannotta, M; Moutard, M; Doummar, D; Hubsch Bonneaud, C; Jaffer, F; Cross, H; Gurrieri, Fiorella; Tiziano, Francesco Danilo; Nevsimalova, S; Nicole, S; Neville, B; Van Den Maagdenberg, Amjm; Mikati, M; Goldstein, Db; Vavassori, R; Arzimanoglou, A.
1-gen-2014 Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: A single-centre experience Luigetti, Marco; Del Grande, Alessandra; Conte, Amelia; Lo Monaco, Mauro; Bisogni, Giulia; Romano, Angela; Zollino, Marcella; Rossini, Paolo Maria; Sabatelli, Mario
1-gen-2021 Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, Veronica; Pucci, Cecilia; Musto, Elisa; Pane, Marika; Mercuri, Eugenio Maria; Neri, Giovanni; Genuardi, Maurizio; Chiurazzi, Pietro; Zollino, Marcella
1-gen-2015 Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes Pavone, P; Praticò, Ad; Falsaperla, R; Ruggieri, M; Zollino, Marcella; Corsello, G; Neri, Giovanni
1-gen-2020 Correction to: Psychiatric disorders and SLC6A4 gene variants: possible effects on alcohol dependence and alzheimer's disease Calabrò, Marco; Mandelli, Laura; Crisafulli, Concetta; Porcelli, Stefano; Albani, Diego; Politis, Antonis; Papadimitriou, George N; Di Nicola, Marco; Janiri, Luigi; Colombo, Roberto; Martinotti, Giovanni; Bellomo, Antonello; Vieta, Eduard; Bonassi, Stefano; Frustaci, Alessandra; Ducci, Giuseppe; Landi, Stefano; Boccia, Stefania; Serretti, Alessandro
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
Mostrati risultati da 21 a 40 di 139
Legenda icone

  •  file ad accesso aperto
  •  file disponibili sulla rete interna
  •  file disponibili agli utenti autorizzati
  •  file disponibili solo agli amministratori
  •  file sotto embargo
  •  nessun file disponibile