Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Frank Roels
A PEX6-Defective Peroxisomal Biogenesis Disorder With Severe Phenotype in an Infant, Versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents
American Journal of Human Genetics
Genetics
Peroxisomes (Microbodies) in Human Liver: Cytochemical and Quantitative Studies of 85 Biopsies
Journal of Histochemistry and Cytochemistry
Anatomy
Histology
Related publications
Dysmorphic Features in a Newborn With Neurological, Liver and Kidney Involvement by Defective Peroxisomal Biogenesis. Case Report
Case reports
A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome
Frontiers in Medicine
Medicine
A Rare Disorder in an Infant With Goldenhar Syndrome and Nephrolithiasis: Alkaptonuria
Cumhuriyet Medical Journal
Medicine
Extreme Enlargement of Lower Extremities Mimicking Elephantiasis in Patients With Severe Insulin Resistance Syndrome; A Novel Phenotype
Endocrine Abstracts
Modeling the Autism Spectrum Disorder Phenotype
Neuroinformatics
Neuroscience
Information Systems
Software
Mutations in MAGT1 Lead to a Glycosylation Disorder With a Variable Phenotype
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
An Unusually Severe Phenotype for Familial Adenomatous Polyposis
Archives of Disease in Childhood
Child Health
Pediatrics
Perinatology
Expanding the Phenotype of DST‐related Disorder: A Case Report Suggesting a Genotype/Phenotype Correlation
American Journal of Medical Genetics, Part A
Genetics
LDL Phenotype in Subjects With Mild Cognitive Impairment and Alzheimer's Disease
Journal of Alzheimer's Disease
Gerontology
Clinical Psychology
Mental Health
Psychiatry
Geriatrics
Medicine
Neuroscience
