Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Uwe Kornak
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
American Journal of Human Genetics
Genetics
RANK-dependent Autosomal Recessive Osteopetrosis: Characterization of Five New Cases With Novel Mutations
Journal of Bone and Mineral Research
Endocrinology
Orthopedics
Sports Medicine
Metabolism
Diabetes
Missense Variant in CCDC22 Causes X-Linked Recessive Intellectual Disability With Features of Ritscher-Schinzel/3c Syndrome
European Journal of Human Genetics
Genetics
GOPHER: Generator of Probes for Capture Hi-C Experiments at High Resolution
BMC Genomics
Biotechnology
Genetics
Severe Congenital Cutis Laxa With Cardiovascular Manifestations Due to Homozygous Deletions in ALDH18A1
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Monogene Frühmanifeste Osteoporose Und Altersosteoporose – Ein Kontinuum
Medizinische Genetik
Genetics
Modelling Neurofibromatosis Type 1 Tibial Dysplasia and Its Treatment With Lovastatin
BMC Medicine
Medicine