Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises : a case report
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Heliyon - ISSN 2405-8440-10:1 (2024) p. 1-5
Population screening for 15q11-q13 duplications : corroboration of the difference in impact between maternally and paternally inherited alleles
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European journal of human genetics - ISSN 1018-4813-32:1 (2024) p. 31-36
Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum
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American journal of medical genetics : part A - ISSN 1552-4825-191:9 (2023) p. 2451-2453
Implementation of exome sequencing in prenatal diagnostics : chances and challenges
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Diagnostics - ISSN 2075-4418-13:5 (2023) p. 1-11
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
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Molecular psychiatry - ISSN 1359-4184-28 (2023) p. 668-697