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Molecular Genetics and Metabolism
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September 5, 2025
Maternal metabolic conditions identified by newborn screening
Rebecca Sponberg, Rebekah Barrick, Kathryn Gasperian, et al.
Molecular Genetics and Metabolism Reports
|
October 27, 2025
Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect
Marina Bottino, Monica Boyer, Maija R Steenari, et al.
Genes
|
July 27, 2024
Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions
Carlos F Mares Beltran, Christina G Tise, Rebekah Barrick, et al.
Molecular Genetics and Metabolism
|
August 28, 2025
Urine organic acid analysis as a tool in evaluation for Zellweger Spectrum disorder: A retrospective study
Lekha Chilakamarri, Matthew B Neu, Rebekah Barrick, et al.
Molecular Genetics and Metabolism Reports
|
December 21, 2023
Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel <i>DARS2</i> mutation
Wei-Lin Huang, Maija R Steenari, Rebekah Barrick, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 12, 2026
Kauro, a graph-based chatbot for high-fidelity information transmission conversations
Charles Hadley King, Rebekah Barrick, Miguel Almalvez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 10, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic disease
Georgia Pitsava, Megan Hawley, Light Auriga, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 7, 2025
Genome sequencing reveals the impact of non-canonical exon inclusions in rare genetic disease
Georgia Pitsava, Megan Hawley, Light Auriga, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 1, 2022
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
Holly Melland, Fabian Bumbak, Anna Kolesnik-Taylor, et al.
Human Molecular Genetics
|
August 26, 2022
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes
Elisabetta Flex, Shahad Albadri, Francesca Clementina Radio, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
Molecular Genetics and Metabolism
|
September 5, 2025
Maternal metabolic conditions identified by newborn screening
Rebecca Sponberg, Rebekah Barrick, Kathryn Gasperian, et al.
Molecular Genetics and Metabolism Reports
|
October 27, 2025
Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect
Marina Bottino, Monica Boyer, Maija R Steenari, et al.
Genes
|
July 27, 2024
Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions
Carlos F Mares Beltran, Christina G Tise, Rebekah Barrick, et al.
Molecular Genetics and Metabolism
|
August 28, 2025
Urine organic acid analysis as a tool in evaluation for Zellweger Spectrum disorder: A retrospective study
Lekha Chilakamarri, Matthew B Neu, Rebekah Barrick, et al.
Molecular Genetics and Metabolism Reports
|
December 21, 2023
Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel <i>DARS2</i> mutation
Wei-Lin Huang, Maija R Steenari, Rebekah Barrick, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 12, 2026
Kauro, a graph-based chatbot for high-fidelity information transmission conversations
Charles Hadley King, Rebekah Barrick, Miguel Almalvez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 10, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic disease
Georgia Pitsava, Megan Hawley, Light Auriga, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 7, 2025
Genome sequencing reveals the impact of non-canonical exon inclusions in rare genetic disease
Georgia Pitsava, Megan Hawley, Light Auriga, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 1, 2022
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
Holly Melland, Fabian Bumbak, Anna Kolesnik-Taylor, et al.
Human Molecular Genetics
|
August 26, 2022
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes
Elisabetta Flex, Shahad Albadri, Francesca Clementina Radio, et al.
Page
of 2