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Journal of Inherited Metabolic Disease
|
January 26, 2021
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
Ulrike Mütze, Lucy Henze, Florian Gleich, et al.
Journal of Inherited Metabolic Disease
|
August 21, 2023
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
Esther M Maier, Ulrike Mütze, Nils Janzen, et al.
Brain : a Journal of Neurology
|
September 30, 2021
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset
Nazanin Mirza-Schreiber, Michael Zech, Rory Wilson, et al.
Annals of Clinical and Translational Neurology
|
January 24, 2024
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders
Ulrike Mütze, Alina Ottenberger, Florian Gleich, et al.
The Journal of Experimental Medicine
|
November 12, 2017
Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects
Maria A Rujano, Magda Cannata Serio, Ganna Panasyuk, et al.
Genes and Immunity
|
October 11, 2003
Testing the possible negative association of type 1 diabetes and atopic disease by analysis of the interleukin 4 receptor gene
L M Maier, R C J Twells, J M M Howson, et al.
Journal of Inherited Metabolic Disease
|
December 4, 2020
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study
E M Charlotte Märtner, Esther M Maier, Katharina Mengler, et al.
BMC Genetics
|
February 22, 2005
Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes
Lisa M Maier, Deborah J Smyth, Adrian Vella, et al.
European Urology Focus
|
February 2, 2024
Cardiovascular Mortality and Duration of Androgen Deprivation in Locally Advanced Prostate Cancer: Long-term Update of NRG/RTOG 9202
Kimberley S Mak, Molly Scannell Bryan, James J Dignam, et al.
Human Mutation
|
July 13, 2006
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
Sonja C Stadler, Roman Polanetz, Esther M Maier, et al.
Page
of 87
Search research articles
Search
Showing results (841-850 of 863) with videos related to
Sort By:
Page
of 87
Journal of Inherited Metabolic Disease
|
January 26, 2021
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
Ulrike Mütze, Lucy Henze, Florian Gleich, et al.
Journal of Inherited Metabolic Disease
|
August 21, 2023
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
Esther M Maier, Ulrike Mütze, Nils Janzen, et al.
Brain : a Journal of Neurology
|
September 30, 2021
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset
Nazanin Mirza-Schreiber, Michael Zech, Rory Wilson, et al.
Annals of Clinical and Translational Neurology
|
January 24, 2024
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders
Ulrike Mütze, Alina Ottenberger, Florian Gleich, et al.
The Journal of Experimental Medicine
|
November 12, 2017
Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects
Maria A Rujano, Magda Cannata Serio, Ganna Panasyuk, et al.
Genes and Immunity
|
October 11, 2003
Testing the possible negative association of type 1 diabetes and atopic disease by analysis of the interleukin 4 receptor gene
L M Maier, R C J Twells, J M M Howson, et al.
Journal of Inherited Metabolic Disease
|
December 4, 2020
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study
E M Charlotte Märtner, Esther M Maier, Katharina Mengler, et al.
BMC Genetics
|
February 22, 2005
Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes
Lisa M Maier, Deborah J Smyth, Adrian Vella, et al.
European Urology Focus
|
February 2, 2024
Cardiovascular Mortality and Duration of Androgen Deprivation in Locally Advanced Prostate Cancer: Long-term Update of NRG/RTOG 9202
Kimberley S Mak, Molly Scannell Bryan, James J Dignam, et al.
Human Mutation
|
July 13, 2006
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
Sonja C Stadler, Roman Polanetz, Esther M Maier, et al.
Page
of 87