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Molecular Genetics and Metabolism
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January 27, 2016
Forty-eight novel mutations causing biotinidase deficiency
Melinda Procter, Barry Wolf, Rong Mao
G3 (Bethesda, Md.)
|
April 4, 2013
The Biotinidase Gene Variants Registry: A Paradigm Public Database
Melinda Procter, Barry Wolf, David K Crockett, 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 amplification
Melinda 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 deficiency
Joshua 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 reporting
M Laura Parnas, Melinda Procter, Monica A Schwarz, et al.
Clinical Chemistry
|
March 2, 2012
A patient with prolonged paralysis
JoDell E Whittington, Hoai D Pham, Melinda Procter, et al.
Diagnostic Microbiology and Infectious Disease
|
July 13, 2004
Evaluation of the ELVIS plate method for the detection and typing of herpes simplex virus in clinical specimens
Gwen A Crist, Janine M Langer, Gail L Woods, et al.
Chest
|
January 5, 2012
α1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax
Dina 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 analysis
Dina N Greene, Melinda Procter, David G Grenache, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
October 14, 2017
Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy
Romain Deschamps, Julien Savatovsky, Catherine Vignal, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 18) with videos related to
Sort By:
Page
of 2
Molecular Genetics and Metabolism
|
January 27, 2016
Forty-eight novel mutations causing biotinidase deficiency
Melinda Procter, Barry Wolf, Rong Mao
G3 (Bethesda, Md.)
|
April 4, 2013
The Biotinidase Gene Variants Registry: A Paradigm Public Database
Melinda Procter, Barry Wolf, David K Crockett, 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 amplification
Melinda 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 deficiency
Joshua 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 reporting
M Laura Parnas, Melinda Procter, Monica A Schwarz, et al.
Clinical Chemistry
|
March 2, 2012
A patient with prolonged paralysis
JoDell E Whittington, Hoai D Pham, Melinda Procter, et al.
Diagnostic Microbiology and Infectious Disease
|
July 13, 2004
Evaluation of the ELVIS plate method for the detection and typing of herpes simplex virus in clinical specimens
Gwen A Crist, Janine M Langer, Gail L Woods, et al.
Chest
|
January 5, 2012
α1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax
Dina 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 analysis
Dina N Greene, Melinda Procter, David G Grenache, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
October 14, 2017
Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy
Romain Deschamps, Julien Savatovsky, Catherine Vignal, et al.
Page
of 2