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Publications by P J Lamont
An Expansion in the ZNF9 Gene Causes PROMM in a Previously Described Family With an Incidental CLCN1 Mutation
Journal of Neurology, Neurosurgery and Psychiatry
Psychiatry
Mental Health
Neurology
Surgery
Pearson's Syndrome Without Marrow Involvement
Archives of Disease in Childhood
Child Health
Pediatrics
Perinatology
Related publications
Myotonia in a Patient With a Mutation in an S4 Arginine Residue Associated With Hypokalaemic Periodic Paralysis and a Concomitant Synonymous CLCN1 Mutation
Scientific Reports
Multidisciplinary
Pre-Implantation Genetic Diagnosis in an Iranian Family With a Novel Mutation in MUT Gene
BMC Medical Genetics
Genetics
Phenotypic Difference of CLCN1 Gene Variant (A313T) in a Korean Family With Myotonia Congenita
Journal of the Korean Neurological Association
Identification of the Recently Described Plasminogen Gene Mutation p.Lys330Glu in a Family From Northern Germany With Hereditary Angioedema
Clinical and Translational Allergy
Immunology
Pulmonary
Allergy
Respiratory Medicine
a Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family
G3: Genes, Genomes, Genetics
Medicine
Genetics
Molecular Biology
A Novel Splice Site Mutation in theRDXgene Causes DFNB24 Hearing Loss in an Iranian Family
American Journal of Medical Genetics, Part A
Genetics
A Plakophilin-1 Gene Mutation in an Egyptian Family With Ectodermal Dysplasia-Skin Fragility Syndrome
Molecular Syndromology
Genetics
Compound Heterozygous Mutations in the Muscle Chloride Channel Gene (CLCN1) in a Japanese Family With Thomsen’s Disease
Clinical Neurology
Neurology
An SFTPC Gene Mutation Causes Childhood Interstitial Lung Disease: First Report in the Arab Region
JRSM Open