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Klaas J Wierenga

Showing results (1-10 of 59) with videos related to

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IUBMB Life|October 28, 2009
Galactose toxicity in animalsKent Lai, Louis J Elsas, Klaas J Wierenga
Journal of Biomolecular Screening|May 21, 2008
High-throughput screening for human galactokinase inhibitorsKlaas J Wierenga, Kent Lai, Peter Buchwald, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2017
Inferred inheritance of MorbidMap genes without OMIM clinical synopsisAamina Shakir, Michael Ripperger, Zhijie Jiang, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 20, 2022
Reply to: "The First Allogeneic Hematopoietic Stem Cell Transplantation in a Polish Patient with Adult-Onset Leukoencephalopathy with Spheroids and Pigmented Glia"Philip W Tipton, Klaas J Wierenga, Zbigniew K Wszolek
Epilepsy & Behavior Case Reports|February 11, 2015
Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizuresFranchette T Pascual, Klaas J Wierenga, Yu-Tze Ng
Clinical Case Reports|September 15, 2018
The first case of deafness-dystonia syndrome due to compound heterozygous variants in Aamina Shakir, Alexandrea F Wadley, Gabriela Purcarin, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|November 24, 2019
A neonate with mucolipidosis II and transient secondary hyperparathyroidismCarlos Leyva, Maria Buch, Klaas J Wierenga, et al.
Molecular Genetics & Genomic Medicine|September 12, 2021
Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variantsKarthik Muthusamy, Alejandro Ferrer, Eric W Klee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 27, 2012
A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parentsKlaas J Wierenga, Zhijie Jiang, Amy C Yang, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 19, 2022
Neuropathological Findings of CSF1R-Related Leukoencephalopathy After Long-Term Immunosuppressive TherapyShunsuke Koga, Philip W Tipton, Klaas J Wierenga, et al.
Pageof 6

Showing results (1-10 of 59) with videos related to

Sort By:
Pageof 6
IUBMB Life|October 28, 2009
Galactose toxicity in animalsKent Lai, Louis J Elsas, Klaas J Wierenga
Journal of Biomolecular Screening|May 21, 2008
High-throughput screening for human galactokinase inhibitorsKlaas J Wierenga, Kent Lai, Peter Buchwald, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2017
Inferred inheritance of MorbidMap genes without OMIM clinical synopsisAamina Shakir, Michael Ripperger, Zhijie Jiang, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 20, 2022
Reply to: "The First Allogeneic Hematopoietic Stem Cell Transplantation in a Polish Patient with Adult-Onset Leukoencephalopathy with Spheroids and Pigmented Glia"Philip W Tipton, Klaas J Wierenga, Zbigniew K Wszolek
Epilepsy & Behavior Case Reports|February 11, 2015
Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizuresFranchette T Pascual, Klaas J Wierenga, Yu-Tze Ng
Clinical Case Reports|September 15, 2018
The first case of deafness-dystonia syndrome due to compound heterozygous variants in Aamina Shakir, Alexandrea F Wadley, Gabriela Purcarin, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|November 24, 2019
A neonate with mucolipidosis II and transient secondary hyperparathyroidismCarlos Leyva, Maria Buch, Klaas J Wierenga, et al.
Molecular Genetics & Genomic Medicine|September 12, 2021
Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variantsKarthik Muthusamy, Alejandro Ferrer, Eric W Klee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 27, 2012
A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parentsKlaas J Wierenga, Zhijie Jiang, Amy C Yang, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 19, 2022
Neuropathological Findings of CSF1R-Related Leukoencephalopathy After Long-Term Immunosuppressive TherapyShunsuke Koga, Philip W Tipton, Klaas J Wierenga, et al.
Pageof 6