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Erik-Jan Kamsteeg

Showing results (1-10 of 176) with videos related to

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Current Opinion in Nephrology and Hypertension|June 15, 2007
Tetraspan proteins: regulators of renal structure and functionMichael J Caplan, Erik-Jan Kamsteeg, Amy Duffield
Prenatal Diagnosis|May 23, 2024
Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnosesSanne P Smeekens, Maike Leferink, Helger G Yntema, et al.
Clinical Dysmorphology|July 31, 2010
A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndromeMariken Ruiter, Erik-Jan Kamsteeg, Germana Meroni, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 9, 2003
The tetraspanin CD63 enhances the internalization of the H,K-ATPase beta-subunitAmy Duffield, Erik-Jan Kamsteeg, Andrea N Brown, et al.
Journal of the American Society of Nephrology : JASN|February 24, 2006
Development of lithium-induced nephrogenic diabetes insipidus is dissociated from adenylyl cyclase activityYuedan Li, Stephen Shaw, Erik-Jan Kamsteeg, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 5, 2018
A brother and sister with intellectual disability and characteristic neuroimaging findingsMarjolein Hermens, Marjo S van der Knaap, Erik-Jan Kamsteeg, et al.
International Journal of Molecular Sciences|July 14, 2023
An E280K Missense Variant in <i>KCND3</i>/Kv4.3-Case Report and Functional CharacterizationRichard Ågren, Niels Geerdink, Han G Brunner, et al.
Developmental Medicine and Child Neurology|September 10, 2016
Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephalyAli H Alwadei, Ruba Benini, Adel Mahmoud, et al.
Human Mutation|August 25, 2009
Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidusErik-Jan Kamsteeg, Monique Stoffels, Grazia Tamma, et al.
Cerebellum (London, England)|January 17, 2025
Delayed Progression of Ataxia with a Static Cerebellar Lesion- Consider SCA27BTsz Hang Wong, Jamie Manuputty, Tom van Seeters, et al.
Pageof 18

Showing results (1-10 of 176) with videos related to

Sort By:
Pageof 18
Current Opinion in Nephrology and Hypertension|June 15, 2007
Tetraspan proteins: regulators of renal structure and functionMichael J Caplan, Erik-Jan Kamsteeg, Amy Duffield
Prenatal Diagnosis|May 23, 2024
Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnosesSanne P Smeekens, Maike Leferink, Helger G Yntema, et al.
Clinical Dysmorphology|July 31, 2010
A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndromeMariken Ruiter, Erik-Jan Kamsteeg, Germana Meroni, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 9, 2003
The tetraspanin CD63 enhances the internalization of the H,K-ATPase beta-subunitAmy Duffield, Erik-Jan Kamsteeg, Andrea N Brown, et al.
Journal of the American Society of Nephrology : JASN|February 24, 2006
Development of lithium-induced nephrogenic diabetes insipidus is dissociated from adenylyl cyclase activityYuedan Li, Stephen Shaw, Erik-Jan Kamsteeg, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 5, 2018
A brother and sister with intellectual disability and characteristic neuroimaging findingsMarjolein Hermens, Marjo S van der Knaap, Erik-Jan Kamsteeg, et al.
International Journal of Molecular Sciences|July 14, 2023
An E280K Missense Variant in <i>KCND3</i>/Kv4.3-Case Report and Functional CharacterizationRichard Ågren, Niels Geerdink, Han G Brunner, et al.
Developmental Medicine and Child Neurology|September 10, 2016
Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephalyAli H Alwadei, Ruba Benini, Adel Mahmoud, et al.
Human Mutation|August 25, 2009
Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidusErik-Jan Kamsteeg, Monique Stoffels, Grazia Tamma, et al.
Cerebellum (London, England)|January 17, 2025
Delayed Progression of Ataxia with a Static Cerebellar Lesion- Consider SCA27BTsz Hang Wong, Jamie Manuputty, Tom van Seeters, et al.
Pageof 18