Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Jens M. Hertz
A Novel Missense Mutation (G43S) in the Switch I Region of Rab27A Causing Griscelli Syndrome
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Related publications
Novel 47.5-Kb Deletion in RAB27A Results in Severe Griscelli Syndrome Type 2
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Novel Mutation in KCNQ2 Causing Ohtahara Syndrome
Annals of Child Neurology
A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome
Frontiers in Pediatrics
Child Health
Pediatrics
Perinatology
A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
A Novel Missense Mutation p.L76P in the GJB2 Gene Causing Nonsyndromic Recessive Deafness in a Brazilian Family
Brazilian Journal of Medical and Biological Research
Immunology
Cell Biology
Pharmacology
Biochemistry
Biophysics
Neuroscience
Medicine
Toxicology
Physiology
Pharmaceutics
A Novel Missense Mutation of F 9 Gene in Hemophilia B Patients
Journal of Blood Disorders & Transfusion
A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma With Deafness
American Journal of Pathology
Forensic Medicine
Pathology
A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia
Reproductive Sciences
Gynecology
Obstetrics
The Novel Missense Mutation Met48Lys in FKBP22 Changes Its Structure and Functions
Scientific Reports
Multidisciplinary
