Kathryn Urankar - Concepedia

Author

Kathryn Urankar

Also Known As

K Urankar, K. Urankar, Kathryn Urankar

Publications

190

Citations

H-Index

Concepts

All Affiliations

Kathryn Urankar is an author at Bristol Royal Hospital for Children specializing in medicine, pathology, and inherited metabolic disease.

#	Concept	H-Index	Publications	Citations
1	Medicine	2	2	26
2	Pathology	2	2	26
3	Molecular Medicine	1	1	15
4	Genetics	1	1	11
5	Inherited Metabolic Disease	1	1	15

Kathryn Urankar

Publications

Citations

H-Index

Page 1

	Year	Citations
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, Human Mutation	2019	44
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, European Journal of Human Genetics	2018	24
A rare case of adult onset LPIN1 associated rhabdomyolysis Thomas Minton, Natalie Forrester, Sami Al Baba, Neuromuscular Disorders Rare CaseInherited Metabolic DiseasePathologyMedicineHuman Pathology	2020	15
A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency Shpresa Pula, Kathryn Urankar, Andrew Norman, Neuromuscular Disorders Mitochondrial MyopathyMendelian DisorderGenetic DisorderGeneticsPathology	2019	11

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