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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
February 23, 2010
Posterior reversible encephalopathy syndrome in paediatric leukaemia
Bianca Panis, Annemarie M M Vlaar, Gijs Th J van Well, et al.
Molecular Genetics and Metabolism
|
April 20, 2006
Untreated classical galactosemia patient with mild phenotype
Bianca Panis, Jaap A Bakker, Jean-Pierre J E Sels, et al.
Bone
|
June 20, 2006
Effect of calcium, vitamins K1 and D3 on bone in galactosemia
Bianca Panis, Cees Vermeer, Marinus J P G van Kroonenburgh, et al.
Journal of Inherited Metabolic Disease
|
April 25, 2024
Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients
Britt Derks, Varsha Shashi Kumar, Sai Yadnik, et al.
Molecular Genetics and Metabolism
|
February 20, 2026
From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease
Oliver Heath, Francisco Del Caño-Ochoa, Safa Baris, et al.
Journal of Inherited Metabolic Disease
|
November 10, 2025
Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases
Ellen M Hulshof, Hugo P Lantinga, Gonnie Alkemade, et al.
American Journal of Human Genetics
|
January 8, 2019
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies
Konrad Platzer, Heinrich Sticht, Stacey L Edwards, et al.
Journal of Medical Genetics
|
March 11, 2020
Pathogenic variants in <i>TNRC6B</i> cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
Jorge Luis Granadillo, Alexander P A Stegmann, Hui Guo, et al.
International Journal of Neonatal Screening
|
October 24, 2023
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
Abigail Veldman, M B Gea Kiewiet, Dineke Westra, et al.
Frontiers in Genetics
|
March 1, 2024
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
Bianca Panis, E Naomi Vos, Ivo Barić, et al.
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Showing results (11-20 of 22) with videos related to
Sort By:
Page
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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
February 23, 2010
Posterior reversible encephalopathy syndrome in paediatric leukaemia
Bianca Panis, Annemarie M M Vlaar, Gijs Th J van Well, et al.
Molecular Genetics and Metabolism
|
April 20, 2006
Untreated classical galactosemia patient with mild phenotype
Bianca Panis, Jaap A Bakker, Jean-Pierre J E Sels, et al.
Bone
|
June 20, 2006
Effect of calcium, vitamins K1 and D3 on bone in galactosemia
Bianca Panis, Cees Vermeer, Marinus J P G van Kroonenburgh, et al.
Journal of Inherited Metabolic Disease
|
April 25, 2024
Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients
Britt Derks, Varsha Shashi Kumar, Sai Yadnik, et al.
Molecular Genetics and Metabolism
|
February 20, 2026
From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease
Oliver Heath, Francisco Del Caño-Ochoa, Safa Baris, et al.
Journal of Inherited Metabolic Disease
|
November 10, 2025
Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases
Ellen M Hulshof, Hugo P Lantinga, Gonnie Alkemade, et al.
American Journal of Human Genetics
|
January 8, 2019
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies
Konrad Platzer, Heinrich Sticht, Stacey L Edwards, et al.
Journal of Medical Genetics
|
March 11, 2020
Pathogenic variants in <i>TNRC6B</i> cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
Jorge Luis Granadillo, Alexander P A Stegmann, Hui Guo, et al.
International Journal of Neonatal Screening
|
October 24, 2023
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
Abigail Veldman, M B Gea Kiewiet, Dineke Westra, et al.
Frontiers in Genetics
|
March 1, 2024
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
Bianca Panis, E Naomi Vos, Ivo Barić, et al.
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