A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2008)
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JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
Volume 59, Issue 5, Pages S92-S98Publisher
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Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene
Lucia Micale, Carmela Fusco, Grazia Nardella, Orazio Palmieri, Tiziana Latiano, Domenica Gioffreda, Francesca Tavano, Anna Panza, Antonio Merla, Giuseppe Biscaglia, Marco Gentile, Antonello Cuttitta, Marco Castori, Francesco Perri, Anna Latiano
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)
Editorial: Neurodevelopmental, neuropsychiatric and psychosocial correlates of joint hypermobility and related disorders
Vincent Guinchat, Carolina Baeza-Velasco, Antonio Bulbena, Marco Castori
FRONTIERS IN PSYCHIATRY (2022)
Placing joint hypermobility in context: traits, disorders and syndromes
Silvia Morlino, Marco Castori
BRITISH MEDICAL BULLETIN (2023)
Primary or secondary bone fragility? This is the question
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HORMONE RESEARCH IN PAEDIATRICS (2022)
A simultaneous next-generation sequencing approach to the diagnosis of couple infertility
Vincenza Precone, Angelantonio Notarangelo, Giuseppe Marceddu, Leonardo D'Agruma, Rossella Cannarella, Aldo E. Calogero, Francesca Cristofoli, Giulia Guerri, Stefano Paolacci, Marco Castori, Matteo Bertelli
MINERVA ENDOCRINOLOGY (2022)
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports
M. Colman, M. Castori, L. Micale, M. Ritelli, M. Colombi, N. Ghali, F. Van Dijk, L. Marsili, A. Weeks, A. Vandersteen, A. Rideout, A. Legrand, M. Frank, T. Mirault, A. Ferraris, N. Di Giosaffatte, P. Grammatico, J. Grunert, C. Frank, S. Symoens, D. Syx, F. Malfait
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY (2022)
DNA methylation episignature testing improves molecular diagnosis of mendelian chromatinopathies
Jennifer Kerkhof, Gabriella M. Squeo, Haley McConkey, Michael A. Levy, Maria R. Piemontese, Marco Castori, Maria Accadia, Elisa Biamino, Matteo Della Monica, Marilena C. Di Giacomo, Cristina Gervasini, Silvia Maitz, Daniela Melis, Donatella Milani, Maria Piccione, Paolo Prontera, Angelo Selicorni, Bekim Sadikovic, Giuseppe Merla
EUROPEAN JOURNAL OF HUMAN GENETICS (2022)
Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation
Angela Maggio, Sandra Mastroianno, Giuseppe Di Stolfo, Stefano Castellana, Pietro Palumbo, Maria Pia Leone, Anita Spirito, Domenico Rosario Potenza, Saverio Ladogana, Marco Castori, Massimo Carella, Massimo Villella, Mauro Pellegrino Salvatori
CARDIOGENETICS (2022)