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Journal of Child Neurology
|
December 29, 2012
Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family
Thomas Opladen, Friedrich Ebinger, Johannes Zschocke, et al.
Molecular Genetics and Metabolism
|
February 1, 2024
Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations
Anna T Reischl-Hajiabadi, Jürgen G Okun, Dirk Kohlmüller, et al.
Scientific Reports
|
December 1, 2023
An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids
Luca Deininger, Sabine Jung-Klawitter, Ralf Mikut, et al.
Journal of Inherited Metabolic Disease
|
June 19, 2021
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria
Heiko Brennenstuhl, Mohammed Nashawi, Julian Schröter, et al.
Computational and Structural Biotechnology Journal
|
February 15, 2023
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
Julian Schröter, Tal Dattner, Jennifer Hüllein, et al.
Orphanet Journal of Rare Diseases
|
January 23, 2021
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome
Robert Meyer, Matthias Begemann, Christian Thomas Hübner, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2026
Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria
Corentin Gondrand, Anna T Reischl-Hajiabadi, Estelle Bonedeau, et al.
Molecular Genetics and Metabolism
|
July 10, 2017
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders
Christina Evers, Christian Staufner, Martin Granzow, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
December 15, 2021
Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review
Anne Weissbach, Martje G Pauly, Rebecca Herzog, et al.
Human Genetics
|
November 14, 2023
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants
Itay Tokatly Latzer, Jean-Baptiste Roullet, Samuele Cesaro, et al.
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Search research articles
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Showing results (51-60 of 95) with videos related to
Sort By:
Page
of 10
Journal of Child Neurology
|
December 29, 2012
Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family
Thomas Opladen, Friedrich Ebinger, Johannes Zschocke, et al.
Molecular Genetics and Metabolism
|
February 1, 2024
Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations
Anna T Reischl-Hajiabadi, Jürgen G Okun, Dirk Kohlmüller, et al.
Scientific Reports
|
December 1, 2023
An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids
Luca Deininger, Sabine Jung-Klawitter, Ralf Mikut, et al.
Journal of Inherited Metabolic Disease
|
June 19, 2021
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria
Heiko Brennenstuhl, Mohammed Nashawi, Julian Schröter, et al.
Computational and Structural Biotechnology Journal
|
February 15, 2023
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
Julian Schröter, Tal Dattner, Jennifer Hüllein, et al.
Orphanet Journal of Rare Diseases
|
January 23, 2021
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome
Robert Meyer, Matthias Begemann, Christian Thomas Hübner, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2026
Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria
Corentin Gondrand, Anna T Reischl-Hajiabadi, Estelle Bonedeau, et al.
Molecular Genetics and Metabolism
|
July 10, 2017
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders
Christina Evers, Christian Staufner, Martin Granzow, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
December 15, 2021
Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review
Anne Weissbach, Martje G Pauly, Rebecca Herzog, et al.
Human Genetics
|
November 14, 2023
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants
Itay Tokatly Latzer, Jean-Baptiste Roullet, Samuele Cesaro, et al.
Page
of 10