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American Journal of Medical Genetics. Part A|June 24, 2020
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutationsMaria L Dentici, Vittorio Maglione, Emanuele Agolini, et al.American Journal of Medical Genetics. Part A|January 31, 2025
MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature ReviewAngela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, et al.Pathogens (Basel, Switzerland)|October 23, 2021
Selection of Endophytic Beauveria bassiana as a Dual Biocontrol Agent of Tomato Pathogens and PestsMartina Sinno, Marta Ranesi, Ilaria Di Lelio, et al.International Journal of Cardiology|July 26, 2018
Long-term survival and phenotypic spectrum in heterotaxy syndrome: A 25-year follow-up experienceAnwar Baban, Nicoletta Cantarutti, Rachele Adorisio, et al.Journal of Medical Genetics|September 11, 2025
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvementFulvio D'Abrusco, Simone Gana, Enrico Alfei, et al.BMC Medical Genetics|January 24, 2014
Diagnosis of Noonan syndrome and related disorders using target next generation sequencingFrancesca Romana Lepri, Rossana Scavelli, Maria Cristina Digilio, et al.Developmental Biology|December 31, 2011
Oocyte specific oolemmal SAS1B involved in sperm binding through intra-acrosomal SLLP1 during fertilizationMonika Sachdev, Arabinda Mandal, Sabine Mulders, et al.Journal of Cardiovascular Development and Disease|February 24, 2022
Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?Valentina Lodato, Giovanni Parlapiano, Federica Calì, et al.Brain Sciences|March 6, 2021
Manic and Depressive Symptoms in Children Diagnosed with Noonan SyndromePaolo Alfieri, Francesca Cumbo, Giulia Serra, et al.Molecular Immunology|June 30, 2019
ENEA, a peach and apricot IgE-binding protein cross-reacting with the latex major allergen Hev b 5Ivana Giangrieco, Teresa Ricciardi, Claudia Alessandri, et al.Pageof 56