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Molecular Genetics and Metabolism Reports
|
March 19, 2026
Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype
Didem Demirbas, Susan E Waisbren, Olaf Bodamer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 1, 2025
A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases
Rajshree Pandey, Noemi Fluetsch Brennan, Kalliopi Trachana, et al.
Molecular Genetics and Metabolism
|
June 24, 2023
Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases
Chen-Han Wilfred Wu, Martin Caha, Leslie Smoot, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
October 6, 2021
Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation
Alec Wright, Arielle Hall, Tara Daly, et al.
Tissue Engineering. Part A
|
October 14, 2008
Introduction of a novel prototype bioartificial liver support system utilizing small human hepatocytes in rotary culture
Martin Wurm, Verena Lubei, Marco Caronna, et al.
Molecular Genetics and Metabolism
|
May 21, 2011
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency
Johannes A Mayr, Olaf Bodamer, Tobias B Haack, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 4, 2009
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I
David C Kasper, Furhan Iqbal, Lenka Dvorakova, et al.
American Journal of Medical Genetics. Part A
|
August 9, 2021
Neuroimaging in Kabuki syndrome and another KMT2D-related disorder
Rachel T Stadelmaier, Margaret A Kenna, Devon Barrett, et al.
The Laryngoscope
|
December 2, 2009
A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia
Reinhard Ramsebner, Martin Ludwig, Thomas Parzefall, et al.
Molecular Genetics and Metabolism
|
August 12, 2025
The PKU Patient Registry: Development of a patient-driven registry and initial outcomes
Lauren Youngborg, Christine S Brown, Eileen M Blakely, et al.
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of 8
Search research articles
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Showing results (21-30 of 74) with videos related to
Sort By:
Page
of 8
Molecular Genetics and Metabolism Reports
|
March 19, 2026
Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype
Didem Demirbas, Susan E Waisbren, Olaf Bodamer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 1, 2025
A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases
Rajshree Pandey, Noemi Fluetsch Brennan, Kalliopi Trachana, et al.
Molecular Genetics and Metabolism
|
June 24, 2023
Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases
Chen-Han Wilfred Wu, Martin Caha, Leslie Smoot, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
October 6, 2021
Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation
Alec Wright, Arielle Hall, Tara Daly, et al.
Tissue Engineering. Part A
|
October 14, 2008
Introduction of a novel prototype bioartificial liver support system utilizing small human hepatocytes in rotary culture
Martin Wurm, Verena Lubei, Marco Caronna, et al.
Molecular Genetics and Metabolism
|
May 21, 2011
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency
Johannes A Mayr, Olaf Bodamer, Tobias B Haack, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 4, 2009
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I
David C Kasper, Furhan Iqbal, Lenka Dvorakova, et al.
American Journal of Medical Genetics. Part A
|
August 9, 2021
Neuroimaging in Kabuki syndrome and another KMT2D-related disorder
Rachel T Stadelmaier, Margaret A Kenna, Devon Barrett, et al.
The Laryngoscope
|
December 2, 2009
A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia
Reinhard Ramsebner, Martin Ludwig, Thomas Parzefall, et al.
Molecular Genetics and Metabolism
|
August 12, 2025
The PKU Patient Registry: Development of a patient-driven registry and initial outcomes
Lauren Youngborg, Christine S Brown, Eileen M Blakely, et al.
Page
of 8