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Journal of Ovarian Research
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May 17, 2024
Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers
Ines Agusti, Maria Isabel Alvarez-Mora, Robin Wijngaard, et al.
Journal of Patient Safety
|
September 1, 2017
Prescribing Errors With Low-Molecular-Weight Heparins
Marielle Slikkerveer, Afke van de Plas, Johanna H M Driessen, et al.
Neuropediatrics
|
May 8, 2026
Unmasking Complex Chromosomal Rearrangement Impacting CHD2 by Genome Sequencing and Optical Genome Mapping in Developmental and Epileptic Encephalopathy-DEE94
Robin Wijngaard, Pinelopi Dragoumi, Kornelia Neveling, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2021
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran
Jordi To-Figueras, Robin Wijngaard, Judit García-Villoria, et al.
Journal of Clinical Medicine
|
April 23, 2022
Evaluation of FMR4, FMR5 and FMR6 Expression Levels as Non-Invasive Biomarkers for the Diagnosis of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)
Maria Isabel Alvarez-Mora, Ines Agusti, Robin Wijngaard, et al.
International Journal of Molecular Sciences
|
May 5, 2021
Validation of a Gas Chromatography-Mass Spectrometry Method for the Measurement of the Redox State Metabolic Ratios Lactate/Pyruvate and β-Hydroxybutyrate/Acetoacetate in Biological Samples
Robin Wijngaard, Meritxell Perramón, Marina Parra-Robert, et al.
Frontiers in Neurology
|
August 10, 2023
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)
Elise A Ferreira, Mark J N Buijs, Robin Wijngaard, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 16, 2025
Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants
Robin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.
Genetics in Medicine Open
|
March 25, 2025
Variants in <i>WASHC3</i>, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism
Youn Hee Jee, Julian C Lui, Dana Marafi, et al.
European Journal of Human Genetics : EJHG
|
October 18, 2023
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
Robin Wijngaard, German Demidov, Luke O'Gorman, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 26) with videos related to
Sort By:
Page
of 3
Journal of Ovarian Research
|
May 17, 2024
Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers
Ines Agusti, Maria Isabel Alvarez-Mora, Robin Wijngaard, et al.
Journal of Patient Safety
|
September 1, 2017
Prescribing Errors With Low-Molecular-Weight Heparins
Marielle Slikkerveer, Afke van de Plas, Johanna H M Driessen, et al.
Neuropediatrics
|
May 8, 2026
Unmasking Complex Chromosomal Rearrangement Impacting CHD2 by Genome Sequencing and Optical Genome Mapping in Developmental and Epileptic Encephalopathy-DEE94
Robin Wijngaard, Pinelopi Dragoumi, Kornelia Neveling, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2021
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran
Jordi To-Figueras, Robin Wijngaard, Judit García-Villoria, et al.
Journal of Clinical Medicine
|
April 23, 2022
Evaluation of FMR4, FMR5 and FMR6 Expression Levels as Non-Invasive Biomarkers for the Diagnosis of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)
Maria Isabel Alvarez-Mora, Ines Agusti, Robin Wijngaard, et al.
International Journal of Molecular Sciences
|
May 5, 2021
Validation of a Gas Chromatography-Mass Spectrometry Method for the Measurement of the Redox State Metabolic Ratios Lactate/Pyruvate and β-Hydroxybutyrate/Acetoacetate in Biological Samples
Robin Wijngaard, Meritxell Perramón, Marina Parra-Robert, et al.
Frontiers in Neurology
|
August 10, 2023
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)
Elise A Ferreira, Mark J N Buijs, Robin Wijngaard, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 16, 2025
Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants
Robin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.
Genetics in Medicine Open
|
March 25, 2025
Variants in <i>WASHC3</i>, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism
Youn Hee Jee, Julian C Lui, Dana Marafi, et al.
European Journal of Human Genetics : EJHG
|
October 18, 2023
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
Robin Wijngaard, German Demidov, Luke O'Gorman, et al.
Page
of 3