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「"Kadali S "[Author]」の検索結果

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Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene.

Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses.

Utility of amniotic fluid chitotriosidase in the prenatal diagnosis of lysosomal storage disorders.

Whole exome sequencing of breast cancer (TNBC) cases from India: association of MSH6 and BRIP1 variants with TNBC risk and oxidative DNA damage.

Sixty years of Neurosurgery at Andhra Medical College and King George Hospital, Visakhapatnam: The (hi) story of the department.

Amniotic fluid glycosaminoglycans in the prenatal diagnosis of mucopolysaccharidoses - A useful biomarker.

The utility of two dimensional electrophoresis in diagnosis of mucopolysaccharidosis disorders.

Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India.

The Relative Frequency of Lysosomal Storage Disorders: A Medical Genetics Referral Laboratory's Experience From India.

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