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American Journal of Human Genetics|September 13, 2016
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early ChildhoodLaura S Kremer, Katharina Danhauser, Diran Herebian, et al.
American Journal of Human Genetics|June 11, 2013
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophySusanne Roosing, Klaus Rohrschneider, Avigail Beryozkin, et al.
European Journal of Human Genetics : EJHG|December 1, 2016
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable conditionAlma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, et al.
American Journal of Human Genetics|February 18, 2010
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathyKonstantinos Nikopoulos, Christian Gilissen, Alexander Hoischen, et al.
Brain : a Journal of Neurology|December 24, 2016
CAD mutations and uridine-responsive epileptic encephalopathyJohannes Koch, Johannes A Mayr, Bader Alhaddad, et al.
American Journal of Human Genetics|September 5, 2015
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech ImpairmentMaja Hempel, Kirsten Cremer, Charlotte W Ockeloen, et al.
Cell Reports|May 21, 2020
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange SyndromeIlaria Parenti, Farah Diab, Sara Ruiz Gil, et al.
Human Mutation|September 18, 2010
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficitsDenise Horn, Johannes Kapeller, Núria Rivera-Brugués, et al.
Neuron|November 16, 2004
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathologyAlexander Zimprich, Saskia Biskup, Petra Leitner, et al.
Investigative Ophthalmology & Visual Science|December 7, 2007
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarraysAnneke I den Hollander, Irma Lopez, Suzanne Yzer, et al.
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