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Publications by Shaowei Yin
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
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Congenital Dyserythropoietic Anemia Type 1: A Case With Novel Compound Heterozygous Mutations in the C15orf41 Gene
American Journal of Hematology
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MPDU1 Mutations Underlie a Novel Human Congenital Disorder of Glycosylation, Designated Type If
Journal of Clinical Investigation
Medicine
PO-0827 Conotruncal Heart Defect in a Patient With Congenital Disorder of Glycosylation Type I
Archives of Disease in Childhood
Child Health
Pediatrics
Perinatology
Novel Compound Heterozygous TMEM67 Variants in a Vietnamese Family With Joubert Syndrome: A Case Report
BMC Medical Genetics
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Identification of Two Novel LAMA2 Mutations in a Chinese Patient With Congenital Muscular Dystrophy
Frontiers in Genetics
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Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient With Female External Genitalia
JCRPE Journal of Clinical Research in Pediatric Endocrinology
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A Novel Compound Heterozygous Mutation of the AIRE Gene in a Patient With Autoimmune Polyendocrine Syndrome Type 1
Annals of Pediatric Endocrinology and Metabolism
Child Health
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Perinatology
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Diabetes
A Novel Compound Heterozygous Stxbp2 Mutation in a Case With Familial Hemophagocytic Lymphohistiocytosis
Turkish Journal of Pediatric Disease
Clinical and Molecular Report of Novel GALC Mutations in Moroccan Patient With Krabbe Disease: Case Report
BMC Pediatrics
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