Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Myra Roche
GCH1 Heterozygous Mutation Identified by Whole-Exome Sequencing as a Treatable Condition in a Patient Presenting With Progressive Spastic Paraplegia
Journal of Neurology
Neurology
Related publications
A De Novo Heterozygous Frameshift Mutation Identified in BCL11B Causes Neurodevelopmental Disorder by Whole Exome Sequencing
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia
Frontiers in Genetics
Genetics
Molecular Medicine
Whole‐exome Sequencing Identified a Novel Variant in an Iranian Patient Affected by Pycnodysostosis
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Novel Homozygous GBA2 Mutation in a Patient With Complicated Spastic Paraplegia
Clinical Neurology and Neurosurgery
Medicine
Surgery
Neurology
A Rare ANOS1 Variant in Siblings With Kallmann Syndrome Identified by Whole Exome Sequencing
Andrology
Endocrinology
Reproductive Medicine
Urology
Metabolism
Diabetes
Whole-Exome Sequencing to Identify the Cause of Congenital Sensorineural Hearing Loss in Carriers of a Heterozygous GJB2 Mutation
European Archives of Oto-Rhino-Laryngology
Medicine
Otorhinolaryngology
Exome Sequencing Reveals a Heterozygous OAS3 Mutation in a Chinese Family With Juvenile-Onset Open-Angle Glaucoma
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Exome Sequencing Identified a Missense Mutation ofEPS8L3in Marie Unna Hereditary Hypotrichosis
Journal of Medical Genetics
Genetics
Spastic Paraplegia With SPG11 Gene delE39 in a Turkish Patient
Gazi Medical Journal
Medicine
