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Cold Spring Harbor Molecular Case Studies
|
August 13, 2017
Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure
Mersedeh Rohanizadegan, Sara M Abdo, Anne O'Donnell-Luria, et al.
Plos One
|
September 15, 2015
Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cells
Luyuan Li, Ana C Paz, Breelyn A Wilky, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2010
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey
Nancy J Mendelsohn, Paul Harmatz, Olaf Bodamer, et al.
American Journal of Medical Genetics. Part A
|
December 29, 2019
The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series
Yirou Wang, Niu Li, Zhe Su, et al.
Blood
|
June 15, 2007
Screening for leukemia- and clone-specific markers at birth in children with T-cell precursor ALL suggests a predominantly postnatal origin
Susanna Fischer, Georg Mann, Marianne Konrad, et al.
European Journal of Pediatrics
|
November 1, 2011
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus
Joseph Muenzer, Olaf Bodamer, Barbara Burton, et al.
JIMD Reports
|
February 23, 2013
Newborn screening for lysosomal storage disorders in hungary
Judit Wittmann, Eszter Karg, Sàndor Turi, et al.
Molecular Cytogenetics
|
September 24, 2013
Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray
Yao-Shan Fan, Xiaomei Ouyang, Jinghong Peng, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
March 27, 2010
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry
Angéla Dajnoki, György Fekete, Joan Keutzer, et al.
Frontiers in Immunology
|
May 20, 2024
KMT2D regulates activation, localization, and integrin expression by T-cells
Sarah J Potter, Li Zhang, Michael Kotliar, et al.
Page
of 8
Search research articles
Search
Showing results (31-40 of 74) with videos related to
Sort By:
Page
of 8
Cold Spring Harbor Molecular Case Studies
|
August 13, 2017
Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure
Mersedeh Rohanizadegan, Sara M Abdo, Anne O'Donnell-Luria, et al.
Plos One
|
September 15, 2015
Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cells
Luyuan Li, Ana C Paz, Breelyn A Wilky, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2010
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey
Nancy J Mendelsohn, Paul Harmatz, Olaf Bodamer, et al.
American Journal of Medical Genetics. Part A
|
December 29, 2019
The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series
Yirou Wang, Niu Li, Zhe Su, et al.
Blood
|
June 15, 2007
Screening for leukemia- and clone-specific markers at birth in children with T-cell precursor ALL suggests a predominantly postnatal origin
Susanna Fischer, Georg Mann, Marianne Konrad, et al.
European Journal of Pediatrics
|
November 1, 2011
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus
Joseph Muenzer, Olaf Bodamer, Barbara Burton, et al.
JIMD Reports
|
February 23, 2013
Newborn screening for lysosomal storage disorders in hungary
Judit Wittmann, Eszter Karg, Sàndor Turi, et al.
Molecular Cytogenetics
|
September 24, 2013
Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray
Yao-Shan Fan, Xiaomei Ouyang, Jinghong Peng, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
March 27, 2010
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry
Angéla Dajnoki, György Fekete, Joan Keutzer, et al.
Frontiers in Immunology
|
May 20, 2024
KMT2D regulates activation, localization, and integrin expression by T-cells
Sarah J Potter, Li Zhang, Michael Kotliar, et al.
Page
of 8