Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Nori Williams
Molecular Autopsy: Using the Discovery of a Novel De Novo Pathogenic Variant in the KCNH2 Gene to Inform Healthcare of Surviving Family
Heliyon
Multidisciplinary
Related publications
A Novel Pathogenic Variant (C.592_599del) in PCDH19 in a Korean Family With Epilepsy
Annals of Child Neurology
The First Sri Lankan Family With Dent Disease-1 Due to a Pathogenic Variant in the CLCN5 Gene: A Case Report
BMC Research Notes
Biochemistry
Medicine
Genetics
Molecular Biology
De Novo Pathogenic DNM1L Variant in a Patient Diagnosed With Atypical Hereditary Sensory and Autonomic Neuropathy
Molecular genetics & genomic medicine
Genetics
Molecular Biology
A Novel De Novo Dominant Mutation of NOTCH1 Gene in an Iranian Family With Non‐syndromic Congenital Heart Disease
Journal of Clinical Laboratory Analysis
Allergy
Immunology
Biochemistry
Public Health
Medical Laboratory Technology
Clinical Biochemistry
Hematology
Microbiology
Environmental
Occupational Health
A Novel Pathogenic Germline Mutation in the Adenomatous Polyposis Coli Gene in a Chinese Family With Familial Adenomatous Coli
Oncotarget
Oncology
The Discovery of Steroids and Other Novel FKBP Inhibitors Using a Molecular Docking Program
Journal of Molecular Biology
Structural Biology
Molecular Biology
Biophysics
A GAS-like Gene Family in the Pathogenic Fungus Candida Glabrata
Microbiology
Microbiology
Identification of a Novel Splice Variant of the Human Musashi‑1 Gene
Oncology Letters
Cancer Research
Oncology
De Novo Assembly of Auricularia Polytricha Transcriptome Using Illumina Sequencing for Gene Discovery and SSR Marker Identification
PLoS ONE
Multidisciplinary
