Michael C Schneider

Michael C Schneider

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Michael C Schneider

Michael C Schneider

Publications by authors named "Michael C Schneider"

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A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia.

Mol Genet Metab Rep 2019 Dec 21;21:100545. Epub 2019 Nov 21.

Section of Neurology, Department of Pediatrics, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100545DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895676PMC
December 2019

Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness.

Arch Otolaryngol Head Neck Surg 2005 Dec;131(12):1057-63

Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, The University of Iowa, Iowa City 52242, USA.

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http://dx.doi.org/10.1001/archotol.131.12.1057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6775642PMC
December 2005

Activation of p21-activated kinase 6 by MAP kinase kinase 6 and p38 MAP kinase.

J Biol Chem 2005 Feb 18;280(5):3323-30. Epub 2004 Nov 18.

Cancer Biology Program, Hematology-Oncology Division, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA.

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http://dx.doi.org/10.1074/jbc.M406701200DOI Listing
February 2005

Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma.

J Clin Endocrinol Metab 2004 Nov;89(11):5694-9

Clinical Cancer Genetics Program, Comprehensive Cancer Center, Department of Molecular Genetics, The Ohio State University 420 West 12th Avenue, Suite 690 TMRF, Columbus, Ohio 43210, USA.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2004-0769DOI Listing
November 2004

Temtamy-like syndrome associated with translocation of 2p24 and 9q32.

Clin Dysmorphol 2003 Jul;12(3):175-7

Division of Genetics and Metabolism, Southern Illinois University School of Medicine, Springfield, IL, USA.

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http://dx.doi.org/10.1097/01.mcd.0000072161.33788.56DOI Listing
July 2003

Deoxyribonuclease I-like III is an inducible macrophage barrier to liposomal transfection.

Mol Ther 2002 Jul;6(1):35-42

Division of Genetics and Metabolism, Department of Pediatrics, Southern Illinois University School of Medicine; Springfield, Illinois 62794, USA.

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http://dx.doi.org/10.1006/mthe.2002.0625DOI Listing
July 2002