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Appelhof, Bart; Wagner, Matias; Hoefele, Julia; Heinze, Anja; Roser, Timo; Koch-Hogrebe, Margarete; Roosendaal, Stefan D.; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Torti, Erin; Houlden, Henry; Maroofian, Reza; Rajabi, Farrah; Sticht, Heinrich; Baas, Frank; Wieczorek, Dagmar; Abou Jamra, Rami (2020): Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. In: European Journal of Human Genetics, Vol. 29, No. 3: pp. 411-421