Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Patrick Yu‐Wai‐Man
Identification of a Novel Heterozygous Guanosine Monophosphate Reductase ( GMPR ) Variant in a Patient With a Late‐onset Disorder of Mitochondrial DNA Maintenance
Clinical Genetics
Genetics
Related publications
A Novel ISCA2 Variant Responsible for an Early-Onset Neurodegenerative Mitochondrial Disorder: A Case Report of Multiple Mitochondrial Dysfunctions Syndrome 4
BMC Neurology
Medicine
Neurology
KAT6B-related Disorder in a Patient With a Novel Frameshift Variant (C.3925dup)
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
A Novel Heterozygous ANO3 Mutation With Basal Ganglia Dysfunction in a Patient With Adult-Onset Isolated Segmental Dystonia
Journal of Clinical Neurology (Korea
Neurology
Compound Heterozygous Hemophilia a in a Female Patient and the Identification of a Novel Missense Mutation, p.Met1093Ile
Molecular Medicine Reports
Oncology
Genetics
Molecular Biology
Biochemistry
Cancer Research
Molecular Medicine
Novel Heterozygous BPIFC Variant in a Chinese Pedigree With Hereditary Trichilemmal Cysts
Molecular genetics & genomic medicine
Genetics
Molecular Biology
A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4
Frontiers in Neurology
Neurology
A Novel Compound Heterozygous Variant Identified in GLDC Gene in a Chinese Family With Non-Ketotic Hyperglycinemia
BMC Medical Genetics
Genetics
Architectural Role of Mitochondrial Transcription Factor a in Maintenance of Human Mitochondrial DNA
Molecular and Cellular Biology
Cell Biology
Molecular Biology
Novel Compound Heterozygous COG5 Mutations in a Chinese Male Patient With Severe Clinical Symptoms and Type�IIi Congenital Disorder of Glycosylation: A Case Report
Experimental and Therapeutic Medicine
Medicine
Cancer Research
Immunology
Microbiology
