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Publications by Shang Yi
PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus
Frontiers in Genetics
Genetics
Molecular Medicine
De Novo Interstitial Deletions at the 11q23.3-Q24.2 Region
Molecular Cytogenetics
Biochemistry
Molecular Medicine
Genetics
Molecular Biology
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Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome With a Homozygous Null Mutation
Canadian Journal of Neurological Sciences
Medicine
Neurology
Janus Kinase 3 Deficiency Caused by a Homozygous Synonymous Exonic Mutation That Creates a Dominant Splice Site
Journal of Allergy and Clinical Immunology
Allergy
Immunology
Congenital Myasthenic Syndrome Due to Mutation in CHRNE Gene
Child Neurology
Truncated Type XVII Collagen Expression in a Patient With Non-Herlitz Junctional Epidermolysis Bullosa Caused by a Homozygous Splice-Site Mutation
Laboratory Investigation
Forensic Medicine
Pathology
Cell Biology
Molecular Biology
A Novel Splice Site Mutation in WAS Gene in Patient With Wiskott-Aldrich Syndrome and Chronic Colitis: A Case Report
BMC Medical Genetics
Genetics
Novel NPHS1 Splice Site Mutations in a Chinese Child With Congenital Nephrotic Syndrome
Genetics and Molecular Research
Medicine
Genetics
Molecular Biology
Spontaneous Thrombosis in a Patient With Factor XI Deficiency Homozygous for the p.Cys398Tyr Mutation
Cumhuriyet Medical Journal
Medicine
Drosophila Studies Support a Role for a Presynaptic Synaptotagmin Mutation in a Human Congenital Myasthenic Syndrome
PLoS ONE
Multidisciplinary
Electrophysiological Study in Synaptic Congenital Myasthenic Syndrome: End-Plate Acetylcholinesterase Deficiency
Arquivos de Neuro-Psiquiatria
Biological Psychiatry
Neurology
