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Publications by E Kinning
Genomic Duplication in Dyggve Melchior Clausen Syndrome, a Novel Mutation Mechanism in an Autosomal Recessive Disorder
Journal of Medical Genetics
Genetics
Partially Matched Related Donor Peripheral Blood Progenitor Cell Transplantation in Paediatric Patients Adding Fludarabine and Anti-Lymphocyte Gamma-Globulin
Bone Marrow Transplantation
Transplantation
Hematology
Related publications
Homozygosity Mapping of a Dyggve-Melchior-Clausen Syndrome Gene to Chromosome 18q21.1
Journal of Medical Genetics
Genetics
A Novel Missence Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
Journal of Integrative Cardiology
Novel Homozygous Mutation in the MYO15A Gene in Autosomal Recessive Hearing Loss
Zahedan Journal of Research in Medical Sciences
A Novel NR2E3 Gene Mutation in Autosomal Recessive Retinitis Pigmentosa With Cystic Maculopathy
Acta Ophthalmologica
Medicine
Ophthalmology
Genome-Wide Linkage Analysis of an Autosomal Recessive Hypotrichosis Identifies a Novel P2RY5 Mutation
Genomics
Genetics
Autosomal Recessive Woolly Hair With Hypotrichosis Caused by a Novel Homozygous Mutation in theP2RY5gene
Experimental Dermatology
Biochemistry
Dermatology
Molecular Biology
Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome
American Journal of Human Genetics
Genetics
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Autosomal Recessive Cerebelloparenchymal Disorder Type 3