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Publications by Ekkehard K.F. Bautz
A Splice Mutation in a Syrian Autosomal Recessive Hypercholesterolemia Family Causes a Two-Nucleotide Deletion of mRNA
Circulation Research
Cardiovascular Medicine
Physiology
Cardiology
Generation of an HFRS Patient-Derived Neutralizing Recombinant Antibody to Hantaan Virus G1 Protein and Definition of the Neutralizing Domain
Journal of Medical Virology
Virology
Infectious Diseases
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INPP5K Variant Causes Autosomal Recessive Congenital Cataract in a Pakistani Family
Clinical Genetics
Genetics
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
a Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family
G3: Genes, Genomes, Genetics
Medicine
Genetics
Molecular Biology
Mutation in Kallikrein 4 Causes Autosomal Recessive Hypomaturation Amelogenesis Imperfecta
Journal of Medical Genetics
Genetics
Autosomal Recessive Primary Generalized Dystonia in Two Siblings From a Consanguineous Family
Movement Disorders
Neurology
Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts
PLoS ONE
Multidisciplinary
A Homozygous Missense Mutation in SLC25A16 Is Associated With Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family
British Journal of Dermatology
Dermatology
Medicine
A Novel Splice Site Mutation in theRDXgene Causes DFNB24 Hearing Loss in an Iranian Family
American Journal of Medical Genetics, Part A
Genetics
Identification of a Novel Homozygous Mutation, TMPRSS3: C.535G>A, in a Tibetan Family With Autosomal Recessive Non-Syndromic Hearing Loss
PLoS ONE
Multidisciplinary