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Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Brain. 2015 Aug;138(Pt 8):2173-90. doi: 10.1093/brain/awv153. Epub 2015 Jun 11.
Brain. 2015.
PMID: 26070982
Free PMC article.
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
Bowser LE, Young M, Wenger OK, Ammous Z, Brigatti KW, Carson VJ, Moser T, Deline J, Aoki K, Morlet T, Scott EM, Puffenberger EG, Robinson DL, Hendrickson C, Salvin J, Gottlieb S, Heaps AD, Tiemeyer M, Strauss KA.
Bowser LE, et al. Among authors: heaps ad.
Mol Genet Metab. 2019 Apr;126(4):475-488. doi: 10.1016/j.ymgme.2019.01.013. Epub 2019 Jan 21.
Mol Genet Metab. 2019.
PMID: 30691927
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A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.
Morlet T, Rabinowitz MR, Looney LR, Riegner T, Greenwood LA, Sherman EA, Achilly N, Zhu A, Yoo E, O'Reilly RC, Jinks RN, Puffenberger EG, Heaps A, Morton H, Strauss KA.
Morlet T, et al.
Laryngoscope. 2014 Mar;124(3):E95-103. doi: 10.1002/lary.24361. Epub 2013 Dec 17.
Laryngoscope. 2014.
PMID: 23946138
Free PMC article.
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A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder.
Strauss KA, Markx S, Georgi B, Paul SM, Jinks RN, Hoshi T, McDonald A, First MB, Liu W, Benkert AR, Heaps AD, Tian Y, Chakravarti A, Bucan M, Puffenberger EG.
Strauss KA, et al. Among authors: heaps ad.
Hum Mol Genet. 2014 Dec 1;23(23):6395-406. doi: 10.1093/hmg/ddu335. Epub 2014 Jun 30.
Hum Mol Genet. 2014.
PMID: 24986916
Free PMC article.
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Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency.
Aoki K, Heaps AD, Strauss KA, Tiemeyer M.
Aoki K, et al. Among authors: heaps ad.
Clin Mass Spectrom. 2019 Mar 16;14 Pt B:106-114. doi: 10.1016/j.clinms.2019.03.001. eCollection 2019 Nov.
Clin Mass Spectrom. 2019.
PMID: 34917767
Free PMC article.
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Genomic diagnostics within a medically underserved population: efficacy and implications.
Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG.
Strauss KA, et al. Among authors: heaps ad.
Genet Med. 2018 Jan;20(1):31-41. doi: 10.1038/gim.2017.76. Epub 2017 Jul 20.
Genet Med. 2018.
PMID: 28726809
Free article.
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Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Strauss KA, Carson VJ, Soltys K, Young ME, Bowser LE, Puffenberger EG, Brigatti KW, Williams KB, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Chopko S, Hailey J, Muelly ER, Shellmer DA, Radcliff Z, Rodrigues A, Loeven K, Heaps AD, Mazariegos GV, Morton DH.
Strauss KA, et al. Among authors: heaps ad.
Mol Genet Metab. 2020 Mar;129(3):193-206. doi: 10.1016/j.ymgme.2020.01.006. Epub 2020 Jan 16.
Mol Genet Metab. 2020.
PMID: 31980395
Free article.
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