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G

G.J. Reynolds

university of turin

10H指数
46论文数
240被引数
收录论文 12
发表时间
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TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural VariantTRAPPC9相关智力发育障碍：一项系统综述及一个复杂结构变异的新病例
errGenes
IF2.8
err2026-06-03
err0
errOAAI
errMarta Calvo; Giuseppe Reynolds; Maria Luca; Eleonora Di Gregorio; Simona Cardaropoli; Eliana Salvo; Ilaria Carelli; Federico Rondot; Stefania Massuras; Diana Carli; Roberta Marinoni; Maria Clara Bonaglia; Alessandro Mussa
err分享
err收藏
PPP1CB-Related Noonan Syndrome with Loose Anagen Hair: A Systematic ReviewPPP1CB相关Noonan综合征伴松散安根毛发：一项系统综述
errGenes
IF2.8
err2026-05-28
err0
errOAAI
errGiuseppe Reynolds; Marta Calvo; Maria Luca; Stefania Massuras; Federico Rondot; Simona Cardaropoli; Alessandro Mussa
err分享
err收藏
Alpelisib in PIK3CA-Related Overgrowth Spectrum (PROS): A Systematic Review of Real-World Evidence in over 100 Patients阿佩利斯ib在PIK3CA相关过度生长谱（PROS）中的应用：基于超过100例患者的真实世界证据的系统综述
errCells
IF5.2
err2026-04-27
err0
errOAAI
errFrancesco Pellegrino; Giuseppe Reynolds; Simona Cardaropoli; Maria Luca; Stefania Massuras; Diana Carli; Alessandro Mussa
err分享
err收藏
Domain-specific phenotypic profiles in RAF1-related Noonan syndromeRAF1相关的Noonan综合征中的领域特异性表型谱
errEuropean Journal of Human Genetics
IF4.6
err2026-01-08
err0
PREAI
errAndrea Gazzin; Marta Calvo; Federico Rondot; Giuseppe Reynolds; Chiara Leoni; Marcello Niceta; Maria Lisa Dentici; Maria Cristina Digilio; Francesca Lepri; Emanuele Monda; Ilaria Carelli; Eva Trevisson; Iris Scala; Giorgia Mancano; Elena Andreucci; Franco Stanzial; Francesco Brancati; Giuseppe Zampino; Luigi Tarani; Roberto Paparella; Diana Carli; Anna Maria Villar; Elena Banaudi; Stefania Massuras; Simona Cardaropoli; Paola Daniele; Elena Airulo; Chiara Riggi; Giulio Calcagni; Giovanni Battista Ferrero; Giuseppe Limongelli; Alessandro De Luca; Marco Tartaglia; Alessandro Mussa
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err收藏
DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural VariantDDOST-先天性糖基化障碍：界定临床谱系及首次报道结构变异
errAmerican Journal of Medical Genetics Part A
IF1.7
err2025-12-01
err0
PREAI
errReynolds, Giuseppe; Carelli, Ilaria; Rondot, Federico; Massuras, Stefania; Pagliardini, Veronica; Gragnaniello, Vincenza; Burlina, Alberto B.; Resciniti, Sara; Agata, Simona; Colavito, Davide; Mussa, Alessandro
err分享
err收藏
Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome扩展SATB2相关综合征的临床和遗传谱
errGenes 2025, Vol. 16, Page 1229
IF0
err2025-10-17
err0
errOAAI
errVerdiana Pullano; Federico Rondot; Ilaria Carelli; Slavica Trajkova; Silvia Carestiato; Simona Cardaropoli; Diana Carli; Elisa Biamino; Fabio Sirchia; Giuseppe Reynolds; Roberto Keller; Elena Shukarova-Angelovska; Giovanni Battista Ferrero; Alfredo Brusco; Alessandro Mussa
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err收藏
Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review关于Noonan综合征及其他RASopathies的临床与分子特征更新：一项回顾性研究及系统综述
errINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
IF4.9
err2025-04-09
err0
errOAAI
errReynolds, Giuseppe; Gazzin, Andrea; Carli, Diana; Massuras, Stefania; Cardaropoli, Simona; Luca, Maria; Defilippi, Beatrice; Ferrero, Giovanni Battista; Mussa, Alessandro
err分享
err收藏
The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2025-04-04
err0
errOAAI
errDallan, Alice; Reynolds, Giuseppe; Canavese, Carlotta; Carli, Diana; Luca, Maria; Gazzin, Andrea; Spada, Marco; Porta, Francesco; Mussa, Alessandro
err分享
err收藏
Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2025-01-27
err0
PREAI
errGazzin, Andrea; Reynolds, Giuseppe; Massuras, Stefania; Luca, Maria; Coppo, Paola; Carli, Diana; Piglionica, Marilidia; Martino, Stefania; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Resta, Nicoletta; Mussa, Alessandro
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err收藏
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-06-26
err8
errOAAI
errReynolds, Giuseppe; Cardaropoli, Simona; Carli, Diana; Luca, Maria; Gazzin, Andrea; Coppo, Paola; La Selva, Roberta; Piglionica, Marilidia; Bagnulo, Rosanna; Turchiano, Antonella; Ranieri, Carlotta; Resta, Nicoletta; Mussa, Alessandro
err分享
err收藏
Beyond sweetness and warmth: transition of the preterm infant
errARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION
IF3.6
err2007-12-21
err11
PREAI
errReynolds, G. J.
err分享
err收藏
FORMAL METHODS IN THE DEVELOPMENT OF PREMO
errCOMPUTER STANDARDS & INTERFACES
IF3.1
err1995-09-01
err4
errOAAI
errDUCE, DA; DUKE, DJ; TENHAGEN, PJW; HERMAN, I; REYNOLDS, GJ
err分享
err收藏

研究方向

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