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Publications by Manfred Mühlbauer
A Patient Severely Affected by Spinal Neurofibromas Carries a Recurrent Splice Site Mutation in the NF1 Gene
European Journal of Human Genetics
Genetics
Related publications
Novel Mutation in the AAAS Gene in a Severely Affected Triple-A Syndrome Patient
Endocrinology & Metabolic Syndrome
Eleven Percent Intact PGM3 in a Severely Immunodeficient Patient With a Novel Splice-Site Mutation, a Case Report
BMC Pediatrics
Child Health
Pediatrics
Perinatology
A Novel Aberrant Splice Site Mutation in the APC Gene
Journal of Medical Genetics
Genetics
A Second Leaky Splice-Site Mutation in the Spastin Gene
American Journal of Human Genetics
Genetics
Toward a Survey of Somatic Mutation of the NF1 Gene in Benign Neurofibromas of Patients With Neurofibromatosis Type 1
American Journal of Human Genetics
Genetics
The Arg1038Gly Missense Variant in the NF1 Gene Causes a Mild Phenotype Without Neurofibromas
Molecular genetics & genomic medicine
Genetics
Molecular Biology
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 Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment
PLoS ONE
Multidisciplinary
A Mutation Hotspot at the P14ARF Splice Site
Oncogene
Cancer Research
Genetics
Molecular Biology
