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Publications by L du Plessis
An Exon 4 Mutation Identified in the Majority of South African Familial Hypercholesterolaemics.
Journal of Medical Genetics
Genetics
Related publications
Familial Influence in the Autobiographies of Black South African and African American Women Activists
Michigan Family Review
New Recurring BRCA1 Variant: An Additional South African Founder Mutation?
South African Medical Journal
Medicine
Low Density Lipoprotein Receptor Mutations in South African Homozygous Familial Hypercholesterolemic Patients
Arteriosclerosis: An Official Journal of the American Heart Association, Inc.
Familial Chilblain Lupus Caused by an Activating Mutation in STING
Pediatric Rheumatology
Immunology
Pediatrics
Rheumatology
Allergy
Perinatology
Child Health
An ANK1 IVS3-2A>C Mutation Causes Exon 4 Skipping in Two Patients From a Chinese Family With Hereditary Spherocytosis
Oncotarget
Oncology
1201 Whole Exon Deletion in the Claudin 16 Gene, a Novel Mutation in Familial Hypomagnesemia/Hypercalciuria/Nephrocalcinosis (FHHNC) and Sensorineural Deafness (SND)
Archives of Disease in Childhood
Child Health
Pediatrics
Perinatology
Familial-Environmental Risk Factors in South African Children With Attention-Deficit Hyperactivity Disorder (ADHD)
Journal of Child Neurology
Child Health
Neurology
Pediatrics
Perinatology
The Silent Mutation Nucleotide 744 G → A, Lys172Lys, in Exon 6 of BRCA2 Results in Exon Skipping
Breast Cancer Research and Treatment
Cancer Research
Oncology
Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation
Journal of the American College of Cardiology
Cardiovascular Medicine
Cardiology
