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(2020) Testicular expression of <i>TDRD1</i>, <i>TDRD5</i>, <i>TDRD9</i> and <i>TDRD12</i> in azoospermia. BMC medical genetics. p. 7.
(2019) Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration. European Journal of Human Genetics. pp. 311-312. ISSN 1018-4813
(2018) Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration. Neurology. e319-e330. ISSN 1526-632X (Electronic) 0028-3878 (Print) 0028-3878 (Linking)
(2017) Digenic inheritance of mutations in the cardiac troponin (<i>TNNT2</i>) and cardiac beta myosin heavy chain (<i>MYH7</i>) as the cause of severe dilated cardiomyopathy. European journal of medical genetics. pp. 485-488. ISSN 1769-7212
(2017) <i>B3GALNT2</i> mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. Genome medicine. p. 11. ISSN 1756-994X