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研究兴趣

论文共 208 篇作者统计合作学者相似作者

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P181: Prenatal-onset Hypertrophic Cardiomyopathy in 54 Patients with RASopathies: Understanding Phenotype-Genotype Correlations for Risk Stratification, Medical Management and Targeted Therapies
Guillaume Jouret, Dominik Brado,Jeroen Breckpot,Davide Vecchio,Mélanie Fradin, Irene Valenzuala, Paula Fernandez, Nuria Martinez,Fabio Sirchia,Alessandro Mussa,Federico Fornari, Jacqueline Aziza, Maria Isis Atallah Gonzalez,Fanny Laffargue, Gueneret Michele, Adela Chirita,Mathilde Nizon,Philippe Khau Van Kien,Francesca Mari,Anna Carrer, Maria Haanpaa, Caroline Rooryck-Thambo, Claire Beneteau, Jean-Baptiste Ichtertz, Marie Bournez, Juliette Dupont,Atilano Carcavilla, Lucia Deiros, Emikarina Rikeros, Maria De Los Angeles Gomez, Maude Grelet,Laetitia Lambert, Lucas Hérissant, Viorica Ciorna,Arthur Sorlin, Rodolphe Dard,Abdelkader Heddar, Jean-Paul Hermand, Didier Menzies
Genetics in Medicine Open (2025): 102146
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Quantification of Lateralized Overgrowth and Genotype-Driven Tissue Composition
Andrea Gazzin, Giuseppe Reynolds, Damiano Allegro, Davide Rossi, Francesca Sciandra, Hirad Akberi Afkhami,Simona Cardaropoli,Marilidia Piglionica,Nicoletta Resta, Marco Di Stefano,Alessandro Mussa
CLINICAL GENETICS (2025)
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Novel PDGFRB Gene Fusions in Two Cases of Infantile Myofibromatosis
Federica Boccia,Sabina Barresi,Silvia Vallese, Valentina Di Martino, Sabrina Bombaci,Stefania Massuras,Andrea Gazzin,Diana Carli,Paola Coppo, Rocco Roma,Isabella Giovannoni,Alessandro Mussa,Rita Alaggio
GENES CHROMOSOMES & CANCERno. 1 (2025)
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Growth Charts for Children with Beckwith-Wiedemann Spectrum
Saskia M Maas, Peter Lauffer,Guido Cocchi, Madison DeMarchis,Andrew M George,Alessandro Mussa, Francesco Pellegrino, Alexander M J Spaans, Emma C van den Brink, Jan M Wit, Leonie A Menke,Jennifer M Kalish
American journal of medical genetics Part App.e64073-e64073, (2025)
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The Wide Phenotypic Spectrum of Thiamine Metabolism Dysfunction Syndrome 5 and Its Treatment
Alice Dallan, Giuseppe Reynolds, Carlotta Canavese,Diana Carli, Maria Luca,Andrea Gazzin,Marco Spada,Francesco Porta,Alessandro Mussa
Orphanet Journal of Rare Diseasesno. 1 (2025): 1-9
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作者统计

#Papers: 208

#Citation: 5206

H-Index: 37

G-Index: 68

Sociability: 7

Diversity: 3

Activity: 29

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