Pubblicazioni

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

2015 - HUMAN MUTATION

Addis, Laura; Ahn, Joo Wook; Dobson, Richard; Dixit, Abhishek; Ogilvie, Caroline M.; Pinto, Dalila; Vaags, Andrea K.; Coon, Hilary; Chaste, Pauline; Wilson, Scott; Parr, Jeremy R.; Andrieux, Joris; Lenne, Bruno; Tumer, Zeynep; Leuzzi, Vincenzo; Aubell, Kristina; Koillinen, Hannele; Curran, Sarah; Marshall, Christian R.; Scherer, Stephen W.; Strug, Lisa J.; Collier, David A.; Pal, Deb K.

Bleeding phenotype and correlation with factor XI (FXI) activity in congenital FXI deficiency: Results of a retrospective study from a single centre

2015 - HAEMOPHILIA

Santoro, Cristina; DI MAURO, Roberta; Baldacci, E.; DE ANGELIS, Federico; Abbruzzese, R.; Barone, Francesco; Bochicchio, RAFFAELE ANGELO; Ferrara, G.; Guarini, Anna; Foa, Roberto; Mazzucconi, Maria Gabriella

A prismatic view of protein phosphorylation in health and disease

2015 - FRONTIERS IN GENETICS

Via, Allegra; Zanzoni, Andreas

Role of CGH array in the diagnosis of autosomal recessive disease: A case of Ellis-van Creveld syndrome

2015 - PRENATAL DIAGNOSIS

D'Ambrosio, Valentina; Votino, Carmela; Cos, Teresa; Boulanger, Sebastien; Dheedene, Annelies; Jani, Jacques; Keymolen, Kathelijn

Keppen-lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6

2015 - AMERICAN JOURNAL OF HUMAN GENETICS

Masotti, Andrea; Uva, Paolo; Davis Keppen, Laura; Basel Vanagaite, Lina; Cohen, Lior; Pisaneschi, Elisa; Celluzzi, Antonella; Bencivenga, Paola; Fang, Mingyan; Tian, Mingyu; Xu, Xun; Cappa, Marco; Dallapiccola, Bruno

Qualitative and quantitative differences of adipose-derived stromal cells from superficial and deep subcutaneous lipoaspirates: A matter of fat

2015 - CYTOTHERAPY

DI TARANTO, Giuseppe; Cicione, Claudia; Visconti, Giuseppe; IsgrÃ², Maria A.; Barba, Marta; Di Stasio, Enrico; Stigliano, Egidio; Bernardini, Camilla; Michetti, Fabrizio; Salgarello, Marzia; Lattanzi, Wanda

Pharmacokinetics of plasma-derived vs. recombinant FVIII concentrates: A comparative study

2015 - HAEMOPHILIA

Morfini, M; Marchesini, E.; Paladino, E.; Santoro, Cristina; Zanon, E.; Iorio, A.

A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype

2015 - MOLECULAR CYTOGENETICS

Primerano, A.; Colao, E.; Villella, C.; Nocera, M. D.; Ciambrone, A.; Luciano, E.; D'Antona, L.; Vismara, M. F. M.; Loddo, S.; Novelli, A.; Perrotti, N.; Malatesta, Paola