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The Journal of Clinical Endocrinology and Metabolism|June 9, 2016
PRKACA Somatic Mutations Are Rare Findings in Aldosterone-Producing AdenomasYara Rhayem, Luis G Perez-Rivas, Anna Dietz, et al.
Journal of Neurology|March 15, 2014
Whole-exome sequencing in patients with inherited neuropathies: outcome and challengesMaria Schabhüttl, Thomas Wieland, Jan Senderek, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|March 20, 2004
New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in miceBettina Lorenz-Depiereux, Victoria E Guido, Kenneth R Johnson, et al.
Human Genetics|May 26, 2018
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomaliesDaniel Fritzen, Alma Kuechler, Mona Grimmel, et al.
American Journal of Human Genetics|May 26, 2015
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystoniaMichael Zech, Daniel D Lam, Ludmila Francescatto, et al.
Journal of Medical Genetics|February 23, 2020
Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genesMartin Krenn, Matias Wagner, Christoph Hotzy, et al.
American Journal of Human Genetics|November 13, 2012
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduriaKatharina Danhauser, Sven W Sauer, Tobias B Haack, et al.
European Journal of Human Genetics : EJHG|April 20, 2017
Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and IDSilke Redler, Tim M Strom, Thomas Wieland, et al.
American Journal of Human Genetics|September 25, 2012
Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-BrauerKathrin A Giehl, Gertrud N Eckstein, Sandra M Pasternack, et al.
American Journal of Human Genetics|May 31, 2011
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short statureRami Abou Jamra, Orianne Philippe, Annick Raas-Rothschild, et al.
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