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American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 455 - 459
KAT6B sequence variants have been identified in both patients with the Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and in the genitopatellar syndrome... 
skeletal anomalies | related disorders | KAT6B | focused exome sequencing | KAT6B-related disorders | RETARDATION | GENETICS & HEREDITY | HISTONE ACETYLTRANSFERASE | MUTATIONS | PHENOTYPIC SPECTRUM | Patella - physiopathology | Scrotum - abnormalities | Scrotum - physiopathology | Exons | Humans | Joint Instability - genetics | Histone Acetyltransferases - genetics | Craniofacial Abnormalities - physiopathology | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Female | Psychomotor Disorders - physiopathology | Urogenital Abnormalities - physiopathology | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Kidney - physiopathology | Haploinsufficiency - genetics | Genetic Association Studies | Congenital Hypothyroidism - physiopathology | Abnormalities, Multiple - physiopathology | Intellectual Disability - physiopathology | Phenotype | Kidney - abnormalities | Alleles | Heart Defects, Congenital - physiopathology | Mutation | Joint Instability - physiopathology | Blepharophimosis - physiopathology | Urogenital Abnormalities - genetics | Medical genetics | Intellectual disabilities | Genotypes | Haploinsufficiency | Index Medicus
Journal Article
Psychopharmacology, ISSN 0033-3158, 02/2016, Volume 233, Issue 4, pp. 727 - 737
Journal Article
by Alessandro Aina and Marco Barbero and Barbara Cagnie and Elena Castelli and Chad Cook and Silvano Ferrari and Andrea Foglia and Paolo Bizzarri and Donatella Giraudo and Chris Littlewood and Paolo Pillastrini and Daniele Piscitelli and Michele Romano and Andrea Tettamanti and Carla Vanti and Stefano Vercelli and Lennard Voogt and Aceto Maria and Spina Emanuele and Paone Paolo and Silvestre Francesco and Carotenuto Antonio and Cerillo Ilaria and Orefice Giuseppe and Bassi Raffaele and Fiorito Serena and Aina Alessandro and M. Bonfanti and M. Pasquetti and Bortolami Arianna and Pillastrini Paolo and Vanti Carla and D. Brioschi and M. Vitali and A. Pedretti and G. Fraschini and A. Tettamanti and G. Castellini and S. Gianola and S. Bonovas and G. Banfi and L. Moja and Greta Castellini and Silvia Gianola and Pamela Frigerio and Michela Agostini and Rosa Bolotta and Davide Corbetta and Monica Gasparini and Paolo Gozzer and Erica Guariento and Linda Li and Valentina Pecoraro and Valeria Sirtori and Andrea Turolla and A. Andreano and Lorenzo Moja and G Castellini and S Gianola and S Bonovas and L Moja and Alessandro Chiarotto and Caroline B. Terwee and Maarten Boers and Raymond W. Ostelo and Alessandro Chiarotto and Lara J. Maxwell and Caroline B. Terwee and George A. Wells and Peter Tugwell and Raymond W. Ostelo and Alessandro Chiarotto and Ron Clijsen and Cesar Fernandez-de-las-Penas and Marco Barbero and Ciceri Matteo and Rossetti Sara and Vercelli Stefano and M. Cislaghi and G. Penone and G. Marinelli and G. Rezzan and G. Melegati and R. Gatti and Colombo Claudio and Tolosa Francesca and Andrea Moriondo and Vercelli Stefano and Stefano Doronzio and Matteo Paci and Silvano Ferrari and Carla Vanti and Marco Monticone and Silvano Ferrari and Carla Vanti and Marco Monticone and Garzonio Fabiola and Zanetta Anna and Bargeri Serena and Cerone Giorgia and ...
Archives of Physiotherapy, 10/2016, Volume 6, Issue S1, pp. 1 - 42
Table of contents S1 Criteria for exercises selection in subjects with low back pain Alessandro Aina S2 Recent advances in pathophysiology and treatment of... 
Journal Article
EMBO Molecular Medicine, ISSN 1757-4676, 09/2018, Volume 10, Issue 9
The diverse clinical phenotypes of Wolf–Hirschhorn syndrome (WHS) are the result of haploinsufficiency of several genes, one of which, LETM1, encodes a protein... 
Cell proliferation | Carbohydrates | Phenotypes | Dehydrogenases | Ketones | Nucleoids | Ribosomes | Pyruvic acid | Lipids | Mitochondrial DNA | Ketone bodies | Glucose | Metabolism | Organelles | Protein turnover | Membrane proteins | Haploinsufficiency | Clonal deletion | Cell death | Fibroblasts | Nutrient availability | Nutrients | Oxidation | Deoxyribonucleic acid--DNA
Journal Article
by Aina, Alessandro and Barbero, Marco and Cagnie, Barbara and Castelli, Elena and Cook, Chad and Ferrari, Silvano and Foglia, Andrea and Bizzarri, Paolo and Giraudo, Donatella and Littlewood, Chris and Pillastrini, Paolo and Piscitelli, Daniele and Romano, Michele and Tettamanti, Andrea and Vanti, Carla and Vercelli, Stefano and Voogt, Lennard and Maria, Aceto and Emanuele, Spina and Paolo, Paone and Francesco, Silvestre and Antonio, Carotenuto and Ilaria, Cerillo and Giuseppe, Orefice and Raffaele, Bassi and Serena, Fiorito and Alessandro, Aina and Bonfanti, M and Pasquetti, M and Arianna, Bortolami and Paolo, Pillastrini and Carla, Vanti and Brioschi, D and Vitali, M and Pedretti, A and Fraschini, G and Tettamanti, A and Castellini, G and Gianola, S and Bonovas, S and Banfi, G and Moja, L and Castellini, Greta and Gianola, Silvia and Frigerio, Pamela and Agostini, Michela and Bolotta, Rosa and Corbetta, Davide and Gasparini, Monica and Gozzer, Paolo and Guariento, Erica and Li, Linda and Pecoraro, Valentina and Sirtori, Valeria and Turolla, Andrea and Andreano, A and Moja, Lorenzo and Castellini, G and Gianola, S and Bonovas, S and Moja, L and Chiarotto, Alessandro and Terwee, Caroline B and Boers, Maarten and Ostelo, Raymond W and Maxwell, Lara J and Wells, George A and Tugwell, Peter and Clijsen, Ron and Fernandez-de-las-Penas, Cesar and Matteo, Ciceri and Sara, Rossetti and Stefano, Vercelli and Cislaghi, M and Penone, G and Marinelli, G and Rezzan, G and Melegati, G and Gatti, R and Claudio, Colombo and Francesca, Tolosa and Moriondo, Andrea and Doronzio, Stefano and Paci, Matteo and Monticone, Marco and Fabiola, Garzonio and Anna, Zanetta and Serena, Bargeri and Giorgia, Cerone and Francesco, Sartorio and Ghirlanda, Filippo and Schneebeli, Alessandro and Cescon, Corrado and Gioia, G and Faccendini, S and Aina, A and Granzotto, G and Coppola, L and Gava, I and Frassinelli, M and ...
Archives of Physiotherapy, ISSN 2057-0082, 10/2016, Volume 6, Issue S1
Journal Article
Journal Article
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