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Publications by Shaochun Bai
Intermediate McAd Deficiency Associated With a Novel Mutation of theACADMGene: C.1052C>T
Case Reports in Genetics
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A Novel KAL1 Mutation Is Associated With Combined Pituitary Hormone Deficiency
Human Genome Variation
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Novel KRIT1/CCM1 Heterozygous Nonsense Mutation (C.715 C>T) Associated With Cerebral and Cerebellar Cavernous Malformations in a Paediatric Patient
BMJ Case Reports
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A Novel p.Arg179Ser (C.537 G>T) Heterozygotes Mutation on Exon 3 of SRD5A2 Gene Accompany With Biotidinase Deficiency in Case With Ambiguous External Genitalia
Konuralp Tıp Dergisi
Identification of a Familial Mutation Associated With GABA-Transaminase Deficiency Disease
Neurobiology of Disease
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A Novel IL2RG Mutation Associated With Maternal T Lymphocyte Engraftment in a Patient With Severe Combined Immunodeficiency
Journal of Human Genetics
Genetics
Identification of Two Novel Mutations Associated With Combined Protein C and Protein S Deficiency
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Cytochrome C Oxidase Deficiency Associated With the First Stop-Codon Point Mutation in Human mtDNA
American Journal of Human Genetics
Genetics
Portal Vein Thrombosis Associated to Prothrombin G20210A Mutation and Protein C Deficiency
Clinical and Applied Thrombosis/Hemostasis
Medicine
Hematology
Dysfibrinogenaemia Associated With a Novel Heterozygous Mutation in FGB (C.680delG) and a Mild Clinical History of Bleeding
Blood Coagulation and Fibrinolysis
Medicine
Hematology
