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Klaas Koop

Showing results (21-30 of 34) with videos related to

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Blood|October 16, 2025
NMNAT3 deficiency: a novel red blood cell enzymopathy causing hemolysis by altering NAD levels and glycolysisTitine J J Ruiter, Brigitte A van Oirschot, Esmé Waanders, et al.
Metabolites|September 26, 2025
Reducing False Positives in Newborn Screening: The Role of Perinatal Factors in the Dutch NBS ProgramNils W F Meijer, Rose E Maase, Patricia L Hall, et al.
International Journal of Neonatal Screening|December 22, 2023
A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with SuccinylacetoneAllysa M Dijkstra, Kimber Evers-van Vliet, M Rebecca Heiner-Fokkema, et al.
International Journal of Neonatal Screening|October 25, 2024
Reply to Bouva et al. Comment on "Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. <i>Int. J. Neonatal Screen.</i> 2023, <i>9</i>, 66"Allysa M Dijkstra, Kimber Evers-van Vliet, M Rebecca Heiner-Fokkema, et al.
Iscience|June 10, 2025
LIMK1 variants are associated with divergent endocrinological phenotypes and altered exocytosis dynamicsIrena J J Muffels, Theodore Carter, Holger Rehmann, et al.
International Journal of Neonatal Screening|January 21, 2026
Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely ReferralNils W F Meijer, Hidde H Huidekoper, Klaas Koop, et al.
Clinical Journal of the American Society of Nephrology : CJASN|April 30, 2011
C4d staining in renal allograft biopsies with early acute rejection and subsequent clinical outcomeJohanna M Botermans, Hanneke de Kort, Michael Eikmans, et al.
Genes|December 24, 2021
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the <i>ABCD1</i> GeneStephanie I W van de Stadt, Petra A W Mooyer, Inge M E Dijkstra, et al.
The New England Journal of Medicine|December 28, 2007
Local dystrophin restoration with antisense oligonucleotide PRO051Judith C van Deutekom, Anneke A Janson, Ieke B Ginjaar, et al.
American Journal of Human Genetics|March 19, 2024
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivationShreyas Bhat, Justine Rousseau, Coralie Michaud, et al.
Pageof 4

Showing results (21-30 of 34) with videos related to

Sort By:
Pageof 4
Blood|October 16, 2025
NMNAT3 deficiency: a novel red blood cell enzymopathy causing hemolysis by altering NAD levels and glycolysisTitine J J Ruiter, Brigitte A van Oirschot, Esmé Waanders, et al.
Metabolites|September 26, 2025
Reducing False Positives in Newborn Screening: The Role of Perinatal Factors in the Dutch NBS ProgramNils W F Meijer, Rose E Maase, Patricia L Hall, et al.
International Journal of Neonatal Screening|December 22, 2023
A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with SuccinylacetoneAllysa M Dijkstra, Kimber Evers-van Vliet, M Rebecca Heiner-Fokkema, et al.
International Journal of Neonatal Screening|October 25, 2024
Reply to Bouva et al. Comment on "Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. <i>Int. J. Neonatal Screen.</i> 2023, <i>9</i>, 66"Allysa M Dijkstra, Kimber Evers-van Vliet, M Rebecca Heiner-Fokkema, et al.
Iscience|June 10, 2025
LIMK1 variants are associated with divergent endocrinological phenotypes and altered exocytosis dynamicsIrena J J Muffels, Theodore Carter, Holger Rehmann, et al.
International Journal of Neonatal Screening|January 21, 2026
Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely ReferralNils W F Meijer, Hidde H Huidekoper, Klaas Koop, et al.
Clinical Journal of the American Society of Nephrology : CJASN|April 30, 2011
C4d staining in renal allograft biopsies with early acute rejection and subsequent clinical outcomeJohanna M Botermans, Hanneke de Kort, Michael Eikmans, et al.
Genes|December 24, 2021
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the <i>ABCD1</i> GeneStephanie I W van de Stadt, Petra A W Mooyer, Inge M E Dijkstra, et al.
The New England Journal of Medicine|December 28, 2007
Local dystrophin restoration with antisense oligonucleotide PRO051Judith C van Deutekom, Anneke A Janson, Ieke B Ginjaar, et al.
American Journal of Human Genetics|March 19, 2024
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivationShreyas Bhat, Justine Rousseau, Coralie Michaud, et al.
Pageof 4