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Autophagy|July 21, 2021
Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disordersKatrin Linda, Elly I Lewerissa, Anouk H A Verboven, et al.Hepatology (Baltimore, Md.)|July 1, 1999
Interferon alfa for chronic hepatitis B infection: increased efficacy of prolonged treatment. The European Concerted Action on Viral Hepatitis (EUROHEP)H L Janssen, G Gerken, V Carreño, et al.Journal of Medical Genetics|December 14, 2004
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)D A Koolen, W M Nillesen, M H A Versteeg, et al.Human Molecular Genetics|November 20, 2024
De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxiasPriyanka Sandal, Chian Ju Jong, Ronald A Merrill, et al.European Journal of Human Genetics : EJHG|August 30, 2021
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobilityAafke Engwerda, Erika K S M Leenders, Barbara Frentz, et al.American Journal of Human Genetics|May 27, 2005
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndromeLionel Willatt, James Cox, John Barber, et al.European Journal of Human Genetics : EJHG|January 21, 2011
Homozygosity mapping in outbred families with mental retardationJanneke H M Schuurs-Hoeijmakers, Jayne Y Hehir-Kwa, Rolph Pfundt, et al.European Journal of Human Genetics : EJHG|December 27, 2007
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approachesDavid A Koolen, Erik A Sistermans, Willy Nilessen, et al.American Journal of Medical Genetics. Part A|January 11, 2013
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndromeJoyce M G Florisson, Irene M J Mathijssen, Belinda Dumee, et al.The New England Journal of Medicine|July 6, 2007
In vitro fertilization with preimplantation genetic screeningSebastiaan Mastenbroek, Moniek Twisk, Jannie van Echten-Arends, et al.Pageof 88