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Publications by Siyu Ma
Phenotype and Genotype of FXIII Deficiency in Two Unrelated Probands: Identification of a Novel F13A1 Large Deletion Mediated by Complex Rearrangement
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Related publications
Phenotype?genotype Correlation in Two Patients With 12q Proximal Deletion
Journal of Human Genetics
Genetics
Identification and Characterization of Two Novel JARID1C Mutations: Suggestion of an Emerging Genotype-Phenotype Correlation
European Journal of Human Genetics
Genetics
Characterization of a Novel Large Deletion Caused by Double-Stranded Breaks in 6-Bp Microhomologous Sequences of Intron 11 and 12 of the F13A1 Gene
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
Novel Genotype-Phenotype and MRI Correlations in a Large Cohort of Patients With SPG7 Mutations
Neurology: Genetics
Neurology
Genetics
ADA2 Deficiency: Case Report of a New Phenotype and Novel Mutation in Two Sisters
RMD Open
Rheumatology
Allergy
Immunology
Further Delineation of the Phenotype Caused by a Novel Large Homozygous Deletion of GRID2 Gene in an Adult Patient
Clinical Case Reports
Medicine
Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency: Identification of a Novel SLC10A1 Mutation in Two Unrelated Infants Presenting With Neonatal Indirect Hyperbilirubinemia and Remarkable Hypercholanemia
Oncotarget
Oncology
Identification of a Novel TTC19 Mutation in a Portuguese Family With Complex III Deficiency
Mitochondrion
Molecular Medicine
Cell Biology
Molecular Biology
Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome
Japanese Journal of Electrocardiology
