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Publications by Valtteri Wirta
Eleven Percent Intact PGM3 in a Severely Immunodeficient Patient With a Novel Splice-Site Mutation, a Case Report
BMC Pediatrics
Child Health
Pediatrics
Perinatology
Related publications
A Novel Splice Site Mutation in WAS Gene in Patient With Wiskott-Aldrich Syndrome and Chronic Colitis: A Case Report
BMC Medical Genetics
Genetics
A Patient Severely Affected by Spinal Neurofibromas Carries a Recurrent Splice Site Mutation in the NF1 Gene
European Journal of Human Genetics
Genetics
A Novel Aberrant Splice Site Mutation in the APC Gene
Journal of Medical Genetics
Genetics
A Novel Site Mutation in a Wiskott-Aldrich Syndrome Boy: A Case Report
Biomedical Journal of Scientific & Technical Research
A Novel BRCA1 Mutation in a Patient With Breast and Ovarian Cancer: A Case Report
Oncology Letters
Cancer Research
Oncology
Rehabilitation of a Patient With Severely Attrited Dentition– A Case Report
International Dental Journal of Student Research
A Novel Splice Site Mutation inSMARCAL1results in Aberrant Exon Definition in a Child With Schimke Immunoosseous Dysplasia
American Journal of Medical Genetics, Part A
Genetics
Novel Mutation in the AAAS Gene in a Severely Affected Triple-A Syndrome Patient
Endocrinology & Metabolic Syndrome
A Novel Frameshift Mutation in the XPC Gene in a Moroccan Patient: A Case Report
Journal of Medical Case Reports
Medicine
