Concepedia

Kathryn Urankar

KU

Statistics

Publications

4

Citations

98

H-Index

4

Active since

2018

Affiliations

North Bristol NHS Trust(Current)

Bristol Royal Hospital for Children

University of Exeter

Royal Devon & Exeter NHS Foundation Trust

Southmead Hospital

Kathryn Urankar is an author at North Bristol NHS Trust specializing in genetics, life sciences, and molecular genetics.

Publications per year

2018–2020

4

Publications

4

Recurrent <i>TTN</i> metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Samantha J. Bryen, Lisa Ewans, Jason Pinner et al. · Human Mutation · 2019 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy

Karen Stals, Richard Caswell, Matthew N. Wakeling et al. · European Journal of Human Genetics · 2018 · 25 citations · Full text

Medicine, Genetics, Neurology +17

A rare case of adult onset LPIN1 associated rhabdomyolysis

Thomas Minton, Natalie Forrester, Sami Al Baba et al. · Neuromuscular Disorders · 2020 · 15 citations

Medicine, Neurology, Molecular Pathology +2

A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency

Shpresa Pula, Kathryn Urankar, Andrew Norman et al. · Neuromuscular Disorders · 2019 · 11 citations

Life Sciences, Genetics, Molecular Genetics +13

1–4 of 4