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- Potassium Channels: Structures, Diseases, and Modulators
- Screen-Based Identification and Validation of Four New Ion Channels As Regulators of Renal Ciliogenesis Gisela G
- Kidneyseq V4 Gene List.Pdf
- Identification of a Novel Recessive Ataxia Gene by Randi M. Burns A
- ORPHA Number Disease Or Group of Diseases 300305 11P15.4
- Progress Report
- EAST Syndrome: Clinical, Pathophysiological, and Genetic Aspects of Mutations in KCNJ10
- Novel KCNJ10 Mutation Identified in a Sesame Family Compromise Channel Function and Impairs Drosophila Locomotor Behavior
- Spinocerebellar Ataxia Precision Panel Overview Indications
- EAST Syndrome
- Hereditary Channelopathies in Neurology
- Gitelman Syndrome Consensus from a KDIGO Controversies Conference
- Kidneyseq™ Iowa Institute of Human Genetics
- Potassium Channelopathies of Epilepsy
- Caveolin-1 Deficiency Inhibits the Basolateral K Channels in The
- Inclusion-Exclusion Criteria
- Deep Resequencing of the Voltage-Gated Potassium Channel Subunit KCNE3 Gene in Chronic Tinnitus
- Orphacode Renal Diagnoses
- Customer-Supplied Information Genetic Summary
- Antenatal Barter Syndrome - Novel Mutation in Gene SLC21A1
- Prevalence and Incidence of Rare Diseases: Bibliographic Data
- Tubulopathy Meets Sherlock Holmes: Biochemical Fingerprinting of Disorders of Altered Kidney Tubular Salt Handling
- Prevalence and Incidence of Rare Diseases
- Gitelman Syndrome: Consensus and Guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
- Novel KCNJ10 Compound Heterozygous Mutations Causing EAST/Sesame-Like Syndrome Compromise Potassium Channel Function
- Hypomagnesemia in Type 2 Diabetes: a Vicious Circle?
- A Rare Cause of Seizure: Gitelman Syndrome Türkyılmaz HN, Berksoy EA, Gürbüz G, Deveci R, Serdaroğlu E and Ünalp A* Dr
- Case Report Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene
- Kidneyseq™ Version 3 Gene List Iowa Institute of Human Genetics
- Of Dogs and Men Cause the Neurological Complications
- (P.(Leu329pro)) Variant Is Pathogenic for the Sesame/EAST Homologue in Malinois Dogs
- Autosomal Recessive Andersen-Tawil Syndrome with a Novel Mutation L94P in Kir2.1
- Neurological Features of Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy Syndrome
- Salt-Losing Tubulopathies in Children: What’S New, What’S Controversial?
- Viewpoints Cerebellar Dysfunction and Ataxia in Patients with Epilepsy: Coincidence, Consequence, Or Cause?