Search Results - "Schildt, Alison"

Osteogenesis imperfecta type XVII: expansion of the phenotype by Dunleavy, Brooke M, Schildt, Alison J, Harrington, Caitlin, Stevenson, David A

“…Background Biallelic variants in SPARC are extremely rare, and have been reported in only a few cases of autosomal recessive osteogenesis imperfecta (OI) type…”
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A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder by Galarreta, Carolina I., Wong, Karen, Carmichael, Jason, Woods, Jeremy, Tise, Christina G., Niehaus, Annie D., Schildt, Alison J., Verscaj, Courtney P., Cusmano‐Ozog, Kristina P.

“…Zellweger spectrum disorder (ZSD) is a group of autosomal recessive disorders caused by biallelic pathogenic variants in any one of the 13 PEX genes essential…”
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Increasing evidence that bats actively forage at wind turbines by Foo, Cecily F, Bennett, Victoria J, Hale, Amanda M, Korstian, Jennifer M, Schildt, Alison J, Williams, Dean A

“…Although the ultimate causes of high bat fatalities at wind farms are not well understood, several lines of evidence suggest that bats are attracted to wind…”
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method for PCR-based identification of bat species from fecal samples by Korstian, Jennifer M, Schildt, Alison J, Bennett, Victoria J, Williams, Dean A, Hale, Amanda M

“…As bat populations are threatened by a range of factors, there is an increasing need to correctly identify and quantify the cumulative impacts of such factors…”
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Time to diagnosis in rapid exome/genome sequencing in the clinical inpatient setting by Schildt, Alison, Stevenson, David A., Yu, Linbo, Anguiano, Beatriz, Suarez, Carlos J.

“…Exome and genome sequencing are clinically available, with many laboratories offering expedited testing (e.g., “rapid” and “ultra‐rapid”). With the increase in…”
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