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Blood
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October 16, 2025
NMNAT3 deficiency: a novel red blood cell enzymopathy causing hemolysis by altering NAD levels and glycolysis
Titine 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 Program
Nils 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 Succinylacetone
Allysa 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 dynamics
Irena 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 Referral
Nils 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 outcome
Johanna 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> Gene
Stephanie 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 PRO051
Judith 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 inactivation
Shreyas Bhat, Justine Rousseau, Coralie Michaud, et al.
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Search research articles
Search
Showing results (21-30 of 34) with videos related to
Sort By:
Page
of 4
Blood
|
October 16, 2025
NMNAT3 deficiency: a novel red blood cell enzymopathy causing hemolysis by altering NAD levels and glycolysis
Titine 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 Program
Nils 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 Succinylacetone
Allysa 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 dynamics
Irena 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 Referral
Nils 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 outcome
Johanna 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> Gene
Stephanie 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 PRO051
Judith 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 inactivation
Shreyas Bhat, Justine Rousseau, Coralie Michaud, et al.
Page
of 4