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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 24, 2002
Characterization of beta-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS
Dana C Crawford, Michele Caggana, Katharine B Harris, et al.
Molecular Genetics and Metabolism
|
October 10, 2013
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database
Christina Lam, Jennifer M Carter, Stephen D Cederbaum, et al.
Prenatal Diagnosis
|
June 28, 2011
Detection rate of quadruple-marker screening determined by clinical follow-up and registry data in the statewide California program, July 2007 to February 2009
Niloufar Neely Kazerouni, Robert J Currier, Monica Flessel, et al.
Pediatrics
|
May 4, 2010
Trends in incidence rates of congenital hypothyroidism related to select demographic factors: data from the United States, California, Massachusetts, New York, and Texas
Cynthia F Hinton, Katharine B Harris, Lynette Borgfeld, et al.
Gene
|
December 2, 2014
Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion
Natalie M Gallant, Dorina Gui, Charles R Lassman, et al.
Journal of Clinical Immunology
|
December 25, 2012
Newborn screening for SCID identifies patients with ataxia telangiectasia
Jacob Mallott, Antonia Kwan, Joseph Church, et al.
Obstetrics and Gynecology
|
June 24, 2009
Triple-marker prenatal screening program for chromosomal defects
N Neely Kazerouni, Bob Currier, Linda Malm, et al.
Molecular Genetics and Metabolism
|
April 29, 2006
Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease
Charles A Kroll, Matt J Ferber, Brian D Dawson, et al.
The Journal of Pediatrics
|
November 17, 2009
Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening
Henry J Lin, Julie A Neidich, Denise Salazar, et al.
Molecular Genetics and Metabolism
|
February 8, 2014
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening
J Lawrence Merritt, Sverre Vedal, Jose E Abdenur, et al.
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of 5
Search research articles
Search
Showing results (21-30 of 41) with videos related to
Sort By:
Page
of 5
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 24, 2002
Characterization of beta-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS
Dana C Crawford, Michele Caggana, Katharine B Harris, et al.
Molecular Genetics and Metabolism
|
October 10, 2013
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database
Christina Lam, Jennifer M Carter, Stephen D Cederbaum, et al.
Prenatal Diagnosis
|
June 28, 2011
Detection rate of quadruple-marker screening determined by clinical follow-up and registry data in the statewide California program, July 2007 to February 2009
Niloufar Neely Kazerouni, Robert J Currier, Monica Flessel, et al.
Pediatrics
|
May 4, 2010
Trends in incidence rates of congenital hypothyroidism related to select demographic factors: data from the United States, California, Massachusetts, New York, and Texas
Cynthia F Hinton, Katharine B Harris, Lynette Borgfeld, et al.
Gene
|
December 2, 2014
Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion
Natalie M Gallant, Dorina Gui, Charles R Lassman, et al.
Journal of Clinical Immunology
|
December 25, 2012
Newborn screening for SCID identifies patients with ataxia telangiectasia
Jacob Mallott, Antonia Kwan, Joseph Church, et al.
Obstetrics and Gynecology
|
June 24, 2009
Triple-marker prenatal screening program for chromosomal defects
N Neely Kazerouni, Bob Currier, Linda Malm, et al.
Molecular Genetics and Metabolism
|
April 29, 2006
Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease
Charles A Kroll, Matt J Ferber, Brian D Dawson, et al.
The Journal of Pediatrics
|
November 17, 2009
Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening
Henry J Lin, Julie A Neidich, Denise Salazar, et al.
Molecular Genetics and Metabolism
|
February 8, 2014
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening
J Lawrence Merritt, Sverre Vedal, Jose E Abdenur, et al.
Page
of 5