Challenges in Communicating a Genetic Diagnosis von Cammarata-Scalisi, Francisco, Willoughby, Colin Eric, Romano, Vito, Callea, Michele

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Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management von Cammarata-Scalisi, Francisco, Callea, Michele, Martinelli, Diego, Willoughby, Colin Eric, Tadich, Antonio Cárdenas, Araya Castillo, Maykol, Lacruz-Rengel, María Angelina, Medina, Marco, Grimaldi, Piercesare, Bertini, Enrico, Nevado, Julián

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Membranous aplasia cutis congenita in trisomy 18 von Cammarata-Scalisi, Francisco, Diociaiuti, Andrea, de Guerrero, Blanca, Willoughby, Colin Eric, Callea, Michele

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Development of a Diagnostic Genetic Test for Simplex and Autosomal Recessive Retinitis Pigmentosa von Clark, Graeme Richard, PhD, Crowe, Paul, BSc, Muszynska, Dorota, MSc, O'Prey, Dominic, BSc, O'Neill, Justin, MPhil, Alexander, Sharon, RGN, Willoughby, Colin Eric, MD, FRCOphth, McKay, Gareth John, PhD, Silvestri, Giuliana, MD, FRCS, Simpson, David Arthur, PhD

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A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype von Callea, Michele, Eric Willoughby, Colin, Camarata-Scalisi, Francisco, Giovannoni, Isabella, Vinciguerra, Agatino, Yavuz, Izzet, Di Stazio, Mariateresa, Di Iorio, Enzo, Clarich, Gabriella, Benettoni, Alessandra, Galeotti, Angela, Bellacchio, Emanuele

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Clinical, etiopathogenic, and therapeutic aspects of KID syndrome von Cammarata‐Scalisi, Francisco, Willoughby, Colin Eric, Cárdenas Tadich, Antonio, Labrador, Nancy, Herrera, Adriana, Callea, Michele

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Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita von Callea, Michele, Martinelli, Diego, Cammarata-Scalisi, Francisco, Grimaldi, Chiara, Jilani, Houweyda, Grimaldi, Piercesare, Willoughby, Colin Eric, Morabito, Antonino

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COVID‐19 and ectodermal dysplasias. Recommendations are necessary von Callea, Michele, Willoughby, Colin Eric, Perry, Diana, Holzer, Ulrike, Fedele, Giulia, Tadich, Antonio Cárdenas, Cammarata‐Scalisi, Francisco

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Molecular diagnosis for heterogeneous genetic diseases with high-throughput DNA sequencing applied to retinitis pigmentosa von Simpson, David Arthur, Clark, Graeme Richard, Alexander, Sharon, Silvestri, Giuliana, Willoughby, Colin Eric

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Mutacion c.3037GA en el gen FBN1 causa sindrome de Marfan con fenotipo atipico severo von Callea, Michele, Willoughby, Colin Eric, Camarata-Scalisi, Francisco, Giovannoni, Isabella, Vinciguerra, Agatino, Yavuz, Izzet, Di Stazio, Mariateresa, Di Iorio, Enzo, Clarich, Gabriella, Benettoni, Alessandra, Galeotti, Angela, Bellacchio, Emanuele

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COMPOSITION COMPRISING DIACID DERIVATIVES AND THEIR USE IN THE TREATMENT OF COLLAGENIC EYE DISORDERS von WILLOUGHBY, Colin Eric, WILLIAMS, Rachel Lucinda

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COMPOSITION COMPRISING DIACID DERIVATIVES AND THEIR USE IN THE TREATMENT OF COLLAGENIC EYE DISORDERS von WILLOUGHBY, Colin Eric, WILLIAMS, Rachel Lucinda

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Efficacy and Safety of 0.01% and 0.02% Atropine for the Treatment of Pediatric Myopia Progression Over 3 Years: A Randomized Clinical Trial von Zadnik, Karla, Schulman, Erica, Flitcroft, Ian, Fogt, Jennifer S, Blumenfeld, Louis C, Fong, Tung M, Lang, Eric, Hemmati, Houman D, Chandler, Simon P

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Changes in body composition and performance with supplemental HMB-FA+ATP von Phillips, Stuart M, Aragon, Alan A, Arciero, Paul J, Arent, Shawn M, Close, Graeme L, Hamilton, D Lee, Helms, Eric R, Henselmans, Menno, Loenneke, Jeremy P, Norton, Layne E, Ormsbee, Michael J, Sale, Craig, Schoenfeld, Brad J, SmithRyan, Abbie E, Tipton, Kevin D, Vukovich, Matthew D, Wilborn, Colin, Willoughby, Darryn S

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A simple, efficient method for the separation of humic substances and DNA from environmental samples von Jackson, C.R, Harper, J.P, Willoughby, D, Roden, E.E, Churchill, P.F

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Effects of TESTOSURGE supplementation on strength, body composition and hormonal profiles during an 8-week resistance training program von Poole, Chris, Bushey, Brandon, Pena, Earnest, Constancio, Eric, Jones, Tyler, Dufour, Fanny, Ervin, Natalie, Clemens, Brittany, Willoughby, Darryn, Kreider, Richard, Foster, Cliffa, Taylor, Lem, Wilborn, Colin

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