Showing results (1-10 of 388) with videos related to
Sort By:
Pageof 39
Molecular Genetics and Metabolism|January 27, 2016
Forty-eight novel mutations causing biotinidase deficiencyMelinda Procter, Barry Wolf, Rong MaoG3 (Bethesda, Md.)|April 4, 2013
The Biotinidase Gene Variants Registry: A Paradigm Public DatabaseMelinda Procter, Barry Wolf, David K Crockett, et al.Frontiers in Neurology|November 16, 2020
Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin TherapyGéraldine Van Winckel, Diana Ballhausen, Barry Wolf, et al.Clinical Chemistry|May 13, 2006
Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplificationMelinda Procter, Lan-Szu Chou, Wei Tang, et al.American Journal of Clinical Pathology|August 22, 2007
Evaluation of an integrative diagnostic algorithm for the identification of people at risk for alpha1-antitrypsin deficiencyJoshua A Bornhorst, Melinda Procter, Cindy Meadows, et al.American Journal of Clinical Pathology|January 14, 2011
Concordance of butyrylcholinesterase phenotype with genotype: implications for biochemical reportingM Laura Parnas, Melinda Procter, Monica A Schwarz, et al.Chest|January 5, 2012
α1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothoraxDina N Greene, Melinda Procter, Patti Krautscheid, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|April 19, 2011
Misclassification of an apparent alpha 1-antitrypsin "Z" deficiency variant by melting analysisDina N Greene, Melinda Procter, David G Grenache, et al.Journal of Clinical Pathology|October 2, 2007
Genotypes and serum concentrations of human alpha-1-antitrypsin "P" protein variants in a clinical populationJoshua A Bornhorst, Fernanda R O Calderon, Melinda Procter, et al.American Journal of Clinical Pathology|April 10, 2014
Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patientsBrenda B Suh-Lailam, Melinda Procter, Patti Krautscheid, et al.Pageof 39