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Publications by Claire Kirk
Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
American Journal of Human Genetics
Genetics
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
American Journal of Human Genetics
Genetics
Related publications
Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
American Journal of Human Genetics
Genetics
Bi-Allelic Missense ABCA3 Mutations in a Patient With Childhood ILD Who Reached Adulthood
ERJ Open Research
Pulmonary
Respiratory Medicine
Loss of UGP2 in Brain Leads to a Severe Epileptic Encephalopathy, Emphasizing That Bi-Allelic Isoform Specific Start-Loss Mutations of Essential Genes Can Cause Genetic Diseases
Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing
Frontiers in Immunology
Allergy
Immunology
Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy
American Journal of Human Genetics
Genetics
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bi-Allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
American Journal of Human Genetics
Genetics
Progressive Myoclonus Epilepsy Caused by a Gain-Of-Function KCNA2 Mutation
Seizure : the journal of the British Epilepsy Association
Medicine
Neurology
Bi‐allelic Loss of FAM46C Triggers Tumor Growth With Concomitant Activation of Akt Signaling in Multiple Myeloma Cells
Cancer Science
Cancer Research
Medicine
Oncology
