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Molecular Genetics and Metabolism
|
October 9, 2013
Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures
Marieke G A de Roo, Nico G G M Abeling, Charles B Majoie, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
May 14, 2008
High incidence of optic disc swelling at very high altitudes
Martina M Bosch, Daniel Barthelmes, Tobias M Merz, et al.
Journal of Inherited Metabolic Disease
|
March 20, 2023
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public-private partnerships
Noa Rosenberg, Nina N Stolwijk, Sibren van den Berg, et al.
Molecular Genetics and Metabolism
|
March 27, 2007
Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency
André B P van Kuilenburg, Judith Meijer, Doreen Dobritzsch, et al.
JIMD Reports
|
December 21, 2016
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis
Britt van Erven, Lindsey Welling, Sandra C van Calcar, et al.
Pharmacogenetics and Genomics
|
November 23, 2025
Pharmacogenomics-guided personalized medicine in a clinical setting: real-world data
Jiayi Liang, Lianne Brand, Rikje Ruiter, et al.
European Thyroid Journal
|
June 28, 2021
Improving the Dutch Newborn Screening for Central Congenital Hypothyroidism by Using 95% Reference Intervals for Thyroxine-Binding Globulin
Kevin Stroek, Annemieke C Heijboer, Marja van Veen-Sijne, et al.
Frontiers in Cell and Developmental Biology
|
February 1, 2021
Biological Roles and Delivery Strategies for Ions to Promote Osteogenic Induction
Elia Bosch-Rué, Leire Diez-Tercero, Barbara Giordano-Kelhoffer, et al.
Clinical Biochemistry
|
March 6, 2023
Machine learning to improve false-positive results in the Dutch newborn screening for congenital hypothyroidism
Kevin Stroek, Allerdien Visser, Catharina P B van der Ploeg, et al.
Orphanet Journal of Rare Diseases
|
June 29, 2011
"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial
Amber E Ten Hoedt, Carla Em Hollak, Carolien Ca Boelen, et al.
Page
of 42
Search research articles
Search
Showing results (291-300 of 412) with videos related to
Sort By:
Page
of 42
Molecular Genetics and Metabolism
|
October 9, 2013
Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures
Marieke G A de Roo, Nico G G M Abeling, Charles B Majoie, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
May 14, 2008
High incidence of optic disc swelling at very high altitudes
Martina M Bosch, Daniel Barthelmes, Tobias M Merz, et al.
Journal of Inherited Metabolic Disease
|
March 20, 2023
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public-private partnerships
Noa Rosenberg, Nina N Stolwijk, Sibren van den Berg, et al.
Molecular Genetics and Metabolism
|
March 27, 2007
Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency
André B P van Kuilenburg, Judith Meijer, Doreen Dobritzsch, et al.
JIMD Reports
|
December 21, 2016
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis
Britt van Erven, Lindsey Welling, Sandra C van Calcar, et al.
Pharmacogenetics and Genomics
|
November 23, 2025
Pharmacogenomics-guided personalized medicine in a clinical setting: real-world data
Jiayi Liang, Lianne Brand, Rikje Ruiter, et al.
European Thyroid Journal
|
June 28, 2021
Improving the Dutch Newborn Screening for Central Congenital Hypothyroidism by Using 95% Reference Intervals for Thyroxine-Binding Globulin
Kevin Stroek, Annemieke C Heijboer, Marja van Veen-Sijne, et al.
Frontiers in Cell and Developmental Biology
|
February 1, 2021
Biological Roles and Delivery Strategies for Ions to Promote Osteogenic Induction
Elia Bosch-Rué, Leire Diez-Tercero, Barbara Giordano-Kelhoffer, et al.
Clinical Biochemistry
|
March 6, 2023
Machine learning to improve false-positive results in the Dutch newborn screening for congenital hypothyroidism
Kevin Stroek, Allerdien Visser, Catharina P B van der Ploeg, et al.
Orphanet Journal of Rare Diseases
|
June 29, 2011
"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial
Amber E Ten Hoedt, Carla Em Hollak, Carolien Ca Boelen, et al.
Page
of 42