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AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS
Collezione AOU Città della Salute di Torino
Items : 2
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype. in American journal of medical genetics. Part C, Seminars in medical genetics / Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32089. doi: 10.1002/ajmg.c.32089. Epub 2024 Jun 1
2024
AOU Città della Salute di Torino
Sousa SB; Kini U; Oliveira D; Zollino M; Metcalfe K; Yamamoto T; Bourgois A; Perrin L; Vincent-Devulder A; Weber S; Faivre L; Vitobello A; Ciaccio C; D'Arrigo S; Hennekam RCM; Henneman P; Alders M; Skinner C; Tedder ML; McConkey H; Kerkhof J; Relator R; Levy MA; Brusco A; Carli D; Reilly J; Trajkova S; Sarli C; van der Laan L; et alii...
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway. in American journal of medical genetics. Part C, Seminars in medical genetics / Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):520-529. doi: 10.1002/ajmg.c.32021. Epub 2022 Dec
2022
AOU Città della Salute di Torino
Carli D; Resta N; Ferrero GB; Ruggieri M; Mussa A;