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Items: 5


Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ.

Mol Genet Metab. 2015 Nov;116(3):139-45. doi: 10.1016/j.ymgme.2015.08.011.


Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.

Dinwiddie DL, Smith LD, Miller NA, Atherton AM, Farrow EG, Strenk ME, Soden SE, Saunders CJ, Kingsmore SF.

Genomics. 2013 Sep;102(3):148-56. doi: 10.1016/j.ygeno.2013.04.013.


Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.

Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Aylsworth AS; 1q21.1 Study Group..

Eur J Hum Genet. 2012 Jul;20(7):754-61. doi: 10.1038/ejhg.2012.6.


Ashkenazi Jewish genetic disease carrier screening.

Begleiter ML, Buchholz JL, Atherton AM, Mays LZ, Lund MM, Strenk ME.

Genet Med. 2008 Jun;10(6):461; author reply 461-2. doi: 10.1097GIM.0b013e318170f87e. No abstract available.


Importance of cell wall mannoproteins for septum formation in Saccharomyces cerevisiae.

Schmidt M, Strenk ME, Boyer MP, Fritsch BJ.

Yeast. 2005 Jul 15;22(9):715-23.

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