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Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic
Download from www.nature.comNovel SUZ12 mutations in Weaver-like syndrome
Download from api.wiley.comPRUNE1 -related disorder: Expanding the clinical spectrum
Download from api.wiley.comConfirmation of SLC5A7 -related distal hereditary motor neuropathy 7 in a family outside Wales
Download from api.wiley.comLoss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders
UploadA novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features
Download from www.nature.comNovel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy
Download from www.nature.comA novel mutation in SLC1A3 causes episodic ataxia
Download from www.nature.comNovel biallelic SZT2 mutations in 3 cases of early‐onset epileptic encephalopathy
UploadA case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK
Download from api.wiley.comA novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia
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