Her primary areas of study are Genetics, Endocrinology, Internal medicine, Gene and Mutation. Her research investigates the connection between Endocrinology and topics such as Hypomagnesemia that intersect with issues in Tetany. Her Internal medicine research includes themes of Positional cloning and Aquaporin 2.
Nine V A M Knoers combines subjects such as Pregnancy, Hypospadias and Gynecology with her study of Gene. Her work deals with themes such as Genetic heterogeneity and Locus heterogeneity, which intersect with Mutation. Her Nephrogenic diabetes insipidus research incorporates themes from Arginine vasopressin receptor 2 and Point mutation.
Her primary areas of investigation include Internal medicine, Genetics, Endocrinology, Nephrogenic diabetes insipidus and Gene. Her work carried out in the field of Internal medicine brings together such families of science as Hypocalciuria and Hypomagnesemia. All of her Genetics and Mutation, Phenotype, Exon, Missense mutation and Genetic heterogeneity investigations are sub-components of the entire Genetics study.
Endocrinology and Vasopressin receptor are frequently intertwined in her study. Her Nephrogenic diabetes insipidus study combines topics from a wide range of disciplines, such as Arginine vasopressin receptor 2 and Aquaporin 2. Her Kidney disease study combines topics in areas such as Pediatrics and Intensive care medicine.
Nine V A M Knoers focuses on Genetics, Pediatrics, Kidney disease, Genetic testing and Internal medicine. Phenotype, Gene, Molecular genetics, Candidate gene and Sanger sequencing are subfields of Genetics in which her conducts study. Nine V A M Knoers has included themes like Age of onset, Dravet syndrome, Epilepsy and Retrospective cohort study in her Pediatrics study.
Nine V A M Knoers interconnects Pregnancy, Kidney and Intensive care medicine in the investigation of issues within Kidney disease. Her biological study spans a wide range of topics, including Disease and End stage renal disease. Her Internal medicine research is multidisciplinary, incorporating perspectives in Endocrinology, Nephronophthisis and Hypomagnesemia.
Genetics, Pediatrics, Internal medicine, Genetic testing and Disease are her primary areas of study. The Pediatrics study combines topics in areas such as Age of onset, Dravet syndrome, Epilepsy and Encephalopathy. Her studies in Internal medicine integrate themes in fields like Diabetes mellitus, Endocrinology, Mutation and Hypomagnesemia.
Her Endocrinology study incorporates themes from Pregnancy, Case-control study and Etiology. Her Genetic testing research is multidisciplinary, relying on both Juvenile nephronophthisis, Nephronophthisis, Cystic kidney, End stage renal disease and Transplantation. Her work in Disease addresses subjects such as Intensive care medicine, which are connected to disciplines such as Ciliopathies, Non invasive and Adult patients.
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Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine.
P. M. T. Deen;M. A. J. Verdijk;N. V. A. M. Knoers;B. Wieringa.
Science (1994)
Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR
Frans P. M. Cremers;Dorien J. R. van de Pol;Marc van Driel;Anneke I. den Hollander.
Human Molecular Genetics (1998)
Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities
Lisenka E.L.M. Vissers;Bert B.A. de Vries;Kazutoyo Osoegawa;Irene M. Janssen.
American Journal of Human Genetics (2003)
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Ralf Birkenhäger;Edgar Otto;Maria J. Schürmann;Martin Vollmer.
Nature Genetics (2001)
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
David A. Koolen;Lisenka E.L.M. Vissers;Rolph Pfundt;Nicole De Leeuw.
Nature Genetics (2006)
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood.
Nature (2011)
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
Heleen H Arts;Dan Doherty;Sylvia E C van Beersum;Melissa A Parisi.
Nature Genetics (2007)
Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia
Wouter M. Tiel Groenestege;Stéphanie Thébault;Jenny van der Wijst;Dennis van den Berg.
Journal of Clinical Investigation (2007)
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.
J.I. Friedman;T. Vrijenhoek;S. Markx;I.M. Janssen.
Molecular Psychiatry (2008)
Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit.
I C Meij;J B Koenderink;H van Bokhoven;K F Assink.
Nature Genetics (2000)
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