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Schroer RJ

References (2)

Title : Missense variants in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions - Monnens_2024_JCI.Insight__e179276
Author(s) : Monnens Y , Theodoropoulou A , Rosier K , Bhalla K , Mahy A , Vanhoutte R , Meulemans S , Cavani E , Antanasijevic A , Lemmens I , Lee JA , Spellicy CJ , Schroer RJ , Maselli RA , Laverty CG , Agostinis P , Pagliarini DJ , Verhelst S , Marcaida MJ , Rochtus A , Dal Peraro M , Creemers JW
Ref : JCI Insight , : , 2024
Abstract :
PubMedSearch : Monnens_2024_JCI.Insight__e179276
PubMedID: 39078710
Gene_locus related to this paper: human-PREPL

Title : Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders - Boccuto_2013_Eur.J.Hum.Genet_21_310
Author(s) : Boccuto L , Lauri M , Sarasua SM , Skinner CD , Buccella D , Dwivedi A , Orteschi D , Collins JS , Zollino M , Visconti P , Dupont B , Tiziano D , Schroer RJ , Neri G , Stevenson RE , Gurrieri F , Schwartz CE
Ref : Eur J Hum Genet , 21 :310 , 2013
Abstract :
PubMedSearch : Boccuto_2013_Eur.J.Hum.Genet_21_310
PubMedID: 22892527