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Publications by Bulagonda Eswarappa Pradeep
A Novel Loss-Of-Function Mutation in HACE1 Is Linked to a Genetic Disorder in a Patient From India
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
Related publications
A Novel Mutation in the X-Linked Inhibitor of Apoptosis Protein Causing a Multi-System Autoinflammatory Disorder
Annals of Paediatric Rheumatology
A Novel HAND2 Loss-Of-Function Mutation Responsible for Tetralogy of Fallot
International Journal of Molecular Medicine
Medicine
Genetics
Identification of a Novel Nonsense Mutation in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1: A Case Report
BMC Medical Genetics
Genetics
A Novel Double Mutation in the ABCD1 Gene in a Patient With X-Linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
A Novel POLG Gene Mutation in a Patient With SANDO
Journal of Experimental and Integrative Medicine
Alternative Medicine
Complementary
A Novel Mutation in a Kazakh Family With X-Linked Alport Syndrome
PLoS ONE
Multidisciplinary
A Human De Novo Mutation inMYH10phenocopies the Loss of Function Mutation in Mice
Rare Diseases
A Mutation in the Serine Protease TMPRSS4 in a Novel Pediatric Neurodegenerative Disorder
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
A Novel BRCA1 Mutation in a Spanish Patient With Ovarian Cancer
Breast Cancer Research and Treatment
Cancer Research
Oncology
