Search Results - "Astudillo, Marcela F."

Identification of atypical pediatric diabetes mellitus cases using electronic medical records by Astudillo, Marcela F, Winter, William E, Billings, Liana K, Kreienkamp, Raymond, Balasubramanyam, Ashok, Redondo, Maria J, Tosur, Mustafa

“…There are no established methods to identify children with atypical diabetes for further study. We aimed to develop strategies to systematically ascertain…”
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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 by Magyar, Christina L., Murdock, David R., Burrage, Lindsay C., Dai, Hongzheng, Lalani, Seema R., Lewis, Richard A., Lin, Yuezhen, Astudillo, Marcela F., Rosenfeld, Jill A., Tran, Alyssa A., Gibson, James B., Bacino, Carlos A., Lee, Brendan H., Chao, Hsiao‐Tuan

“…Prune exopolyphosphatase‐1 ( PRUNE1) encodes a member of the aspartic acid–histidine–histidine (DHH) phosphodiesterase superfamily that regulates cell…”
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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 by Magyar, Christina L., Murdock, David R., Burrage, Lindsay C., Dai, Hongzheng, Lalani, Seema R., Lewis, Richard A., Lin, Yuezhen, Astudillo, Marcela F., Rosenfeld, Jill A., Tran, Alyssa A., Gibson, James B., Bacino, Carlos A., Lee, Brendan H., Chao, Hsiao‐Tuan

“…Prune exopolyphosphatase‐1 (PRUNE1) encodes a member of the aspartic acid–histidine–histidine (DHH) phosphodiesterase superfamily that regulates cell migration…”
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