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「"Ranganath P "[Author]」の検索結果

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Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India.

Mosaic paternal uniparental isodisomy of 15q11-q13 region causing Angelman phenotype.

Multimodality Imaging of Complications of Cardiac Valve Surgeries.

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy.

Alström Syndrome Presenting as Isolated Dilated Cardiomyopathy.

Computed Tomography in Adult Congenital Heart Disease.

Prenatal screening for genetic disorders: Suggested guidelines for the Indian Scenario.

Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene.

Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome.

Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).

Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia.

Identification and Characterization of 20 Novel Pathogenic Variants in 60 unrelated Indian patients with Mucopolysaccharidoses (MPS) type I and type II.

Pycnodysostosis: mutation spectrum in five unrelated Indian children.

Worsening of Callus Hyperplasia after Bisphosphonate Treatment in Type V Osteogenesis Imperfecta.

Glucose induces mouse beta cell proliferation via IRS2, mTOR and cyclin D2 but not the insulin receptor.

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.

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