Publications
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Filters: Keyword is Genetic Association Studies and Author is Baple, Emma L [Clear All Filters]
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med. 2022 ;24(3):631-644.
. Delineating the expanding phenotype associated with SCAPER gene mutation. Am J Med Genet A. 2019 ;179(8):1665-1671.
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