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Current Protocols in Human Genetics
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January 21, 2015
Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I
Britt A Johnson, Angela Dajnoki, Olaf A Bodamer
Pediatrics
|
November 23, 2017
Newborn Screening for Pompe Disease
Olaf A Bodamer, C Ronald Scott, Roberto Giugliani, et al.
American Journal of Medical Genetics. Part A
|
September 18, 2020
Congenital microgastria-limb reduction association: A case report and review of the literature
Suraj S Shah, Asma Rashid, Olaf A Bodamer
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
November 27, 2004
Rapid analysis of total plasma homocysteine by tandem mass spectrometry
Karin Tuschl, Olaf A Bodamer, Wolfgang Erwa, et al.
Best Practice & Research. Clinical Endocrinology & Metabolism
|
May 20, 2015
Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening
Sandra D K Kingma, Olaf A Bodamer, Frits A Wijburg
Orphanet Journal of Rare Diseases
|
April 2, 2014
Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes
Marissa Orenstein, Deborah Barbouth, Olaf A Bodamer, et al.
Pediatric Neurology
|
March 31, 2005
Mucopolysaccharidosis type II in females: case report and review of literature
Karin Tuschl, Andreas Gal, Eduard Paschke, et al.
American Journal of Medical Genetics. Part A
|
August 7, 2007
Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: delineation of a new syndrome
Karin Tuschl, Barbara Fritz, Marion Herle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 20, 2011
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals
Raymond Y Wang, Olaf A Bodamer, Michael S Watson, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
March 17, 2010
Semi-quantitative method for determination of hematocrit in dried blood spots, using data collected in HPLC hemoglobin variant testing
Joseph J Orsini, John Yeman, Michele Caggana, et al.
Page
of 7
Search research articles
Search
Showing results (11-20 of 65) with videos related to
Sort By:
Page
of 7
Current Protocols in Human Genetics
|
January 21, 2015
Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I
Britt A Johnson, Angela Dajnoki, Olaf A Bodamer
Pediatrics
|
November 23, 2017
Newborn Screening for Pompe Disease
Olaf A Bodamer, C Ronald Scott, Roberto Giugliani, et al.
American Journal of Medical Genetics. Part A
|
September 18, 2020
Congenital microgastria-limb reduction association: A case report and review of the literature
Suraj S Shah, Asma Rashid, Olaf A Bodamer
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
November 27, 2004
Rapid analysis of total plasma homocysteine by tandem mass spectrometry
Karin Tuschl, Olaf A Bodamer, Wolfgang Erwa, et al.
Best Practice & Research. Clinical Endocrinology & Metabolism
|
May 20, 2015
Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening
Sandra D K Kingma, Olaf A Bodamer, Frits A Wijburg
Orphanet Journal of Rare Diseases
|
April 2, 2014
Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes
Marissa Orenstein, Deborah Barbouth, Olaf A Bodamer, et al.
Pediatric Neurology
|
March 31, 2005
Mucopolysaccharidosis type II in females: case report and review of literature
Karin Tuschl, Andreas Gal, Eduard Paschke, et al.
American Journal of Medical Genetics. Part A
|
August 7, 2007
Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: delineation of a new syndrome
Karin Tuschl, Barbara Fritz, Marion Herle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 20, 2011
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals
Raymond Y Wang, Olaf A Bodamer, Michael S Watson, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
March 17, 2010
Semi-quantitative method for determination of hematocrit in dried blood spots, using data collected in HPLC hemoglobin variant testing
Joseph J Orsini, John Yeman, Michele Caggana, et al.
Page
of 7