BCS1L Gene Mutation Causing GRACILE Syndrome: Case Report

Renal Failure- United States

doi 10.3109/0886022x.2014.900422

Full Text

Abstract

Available in

Categories

Intensive Care Medicine

Date

March 24, 2014

Authors

Çiğdem Seher Kasapkara

Fatih Suheyl Ezgü

Aynur Küçükçongar

Alev Hasanoğlu

Publisher

Informa UK Limited

Related search

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

Frontiers in Genetics

Molecular Medicine

English

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

Frontiers in Pediatrics

Italian

Depilation Position Causing Wartenberg Syndrome: Case Report

Turkiye Klinikleri Journal of Case Reports

German

Hyaline Fibromatosis Syndrome With Mutation C.1074delT of the CMG2 Gene: A Case Report

Journal of Medical Case Reports

English

Novel Mutation in KCNQ2 Causing Ohtahara Syndrome

Annals of Child Neurology

Estonian

Cervical Epidural Haematoma Causing Brown-Sequard Syndrome: A Case Report

Journal of Orthopaedic Surgery

Catalan

A Novel Mutation in the TG Gene (G2322S) Causing Congenital Hypothyroidism in a Sudanese Family: A Case Report

BMC Medical Genetics

English

Gene Repair of an Usher Syndrome Causing Mutation by Zinc-Finger Nuclease Mediated Homologous Recombination

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Case Report: A Case of PAI-1 4g/5g Heterozygosity Causing Budd-Chiari Syndrome

Molecular Biology

English