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MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases..
J Inherit Metab Dis
46(2)
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2023
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Vos, N, Reilly, J, Elting, MW, Campeau, PM, Coman, D, Stark, Z, Tan, TY, Amor, DJ, Kaur, S, StJohn, M, et al.
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants..
Epigenomics
15(6)
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2023
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Hypomorphic and dominant-negative impact of truncated SOX9 dysregulates Hedgehog-Wnt signaling, causing campomelia..
Proc Natl Acad Sci U S A
120(1)
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2023
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The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome..
Am J Med Genet A
188(12)
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3432 -3447
2022
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Genomic testing in premature ovarian insufficiency: proceed with caution..
Biol Reprod
107(5)
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1155 -1158
2022
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