Publications by authors named "Marcela F Astudillo"

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Identification of atypical pediatric diabetes mellitus cases using electronic medical records.
Marcela F Astudillo, William E Winter, Liana K Billings, Raymond Kreienkamp, Ashok Balasubramanyam

BMJ Open Diabetes Res Care· November 2024

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PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Christina L Magyar, David R Murdock, Lindsay C Burrage, Hongzheng Dai, Seema R Lalani, Marcela F Astudillo

Am J Med Genet A· June 2022

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