Elisabeth Dietschi

Bern, BE, Switzerland

Last Updated: 09/26/2026

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Found 15 publications

A preliminary genome-wide association study of paroxysmal dyskinesia in the Norwich Terrier.

A preliminary genome-wide association study of paroxysmal dyskinesia in the Norwich Terrier.

Journal: Animal genetics
Published: May 24, 2023

YARS2 Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality.

YARS2 Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality.

Journal: Genes
Published: February 12, 2020

A Missense Variant in SCN8A in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia.

A Missense Variant in SCN8A in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia.

Journal: Genes
Published: April 12, 2019

Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the F9 gene promoter.

Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the F9 gene promoter.

Journal: Haematologica
Published: December 26, 2018

An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome.

An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome.

Journal: PLoS genetics
Published: July 24, 2018

A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2).

A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2).

Journal: G3 (Bethesda, Md.)
Published: June 17, 2017

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1.

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: February 23, 2017

A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1).

A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1).

Journal: G3 (Bethesda, Md.)
Published: December 23, 2016

A de novo variant in the ASPRV1 gene in a dog with ichthyosis.

A de novo variant in the ASPRV1 gene in a dog with ichthyosis.

Journal: PLoS genetics
Published: October 24, 2016

Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species.

Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species.

Journal: Scientific reports
Published: October 13, 2016

Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.

Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.

Journal: Molecular genetics and metabolism
Published: October 06, 2016

A Non-Synonymous HMGA2 Variant Decreases Height in Shetland Ponies and Other Small Horses.

A Non-Synonymous HMGA2 Variant Decreases Height in Shetland Ponies and Other Small Horses.

Journal: PloS one
Published: June 29, 2015
Showing 1-12 of 15

Last Updated: 09/26/2026