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Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|February 2, 2016
A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndromeVirpi Elisa Raivio, Jenni Jonasson, Liisa Myllykangas, et al.Duodecim; Laaketieteellinen Aikakauskirja|March 30, 2011
[Update on current care guidelines: appropriate treatment of medical problems associated with Down's syndrome], , Markus Kaski, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 13, 2007
Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletionsPia Vuorela, Sirpa Ala-Mello, Carola Saloranta, et al.American Journal of Human Genetics|March 29, 2002
Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36Maria J Schuermann, Edgar Otto, Achim Becker, et al.Human Mutation|May 20, 2003
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancyLieve Claes, Berten Ceulemans, Dominique Audenaert, et al.Brain : a Journal of Neurology|April 8, 2010
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsyYunxiang Liao, Liesbet Deprez, Snezana Maljevic, et al.BMC Medical Genetics|September 19, 2012
High-resolution SNP array analysis of patients with developmental disorder and normal array CGH resultsLinda Siggberg, Sirpa Ala-Mello, Ala-Mello Sirpa, et al.European Journal of Human Genetics : EJHG|February 10, 2019
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arraysIneke Labrijn-Marks, Galhana M Somers-Bolman, Stijn L M In 't Groen, et al.Nature Neuroscience|August 6, 2013
Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disordersGeorg Stoll, Olli P H Pietiläinen, Bastian Linder, et al.European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.Pageof 2