Shubha R Phadke

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Shubha R



Publications in SciGraph latest 50 shown

  • 2019-04 Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy in JOURNAL OF HUMAN GENETICS
  • 2019-01 Concepts, Utility and Limitations of Cord Blood Banking: What Clinicians Need to Know in THE INDIAN JOURNAL OF PEDIATRICS
  • 2018-12 Connexin 26 (GJB2) Mutations Associated with Non-Syndromic Hearing Loss (NSHL) in THE INDIAN JOURNAL OF PEDIATRICS
  • 2018-12 Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis in BMC GASTROENTEROLOGY
  • 2018-12 Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India in BMC MEDICAL GENETICS
  • 2018-09 Gene expression profiling of coronary artery disease and its relation with different severities in JOURNAL OF GENETICS
  • 2018-06 Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls in INDIAN PEDIATRICS
  • 2018-06 Study of the association of forkhead box P3 (FOXP3) gene polymorphisms with unexplained recurrent spontaneous abortions in Indian population in JOURNAL OF GENETICS
  • 2018-04 Next Generation Sequencing in Diagnosis of MLPA Negative Cases Presenting as Duchenne/ Becker Muscular Dystrophies in THE INDIAN JOURNAL OF PEDIATRICS
  • 2018-03 Phenotypic characterization of derivative 22 syndrome: case series and review in JOURNAL OF GENETICS
  • 2018-02 Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics in INDIAN PEDIATRICS
  • 2018-02 Socio-demographic Profile and Economic Burden of Treatment of Transfusion Dependent Thalassemia in THE INDIAN JOURNAL OF PEDIATRICS
  • 2017-12 Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis in THE INDIAN JOURNAL OF PEDIATRICS
  • 2017-10 Double segment chromosomal imbalance due to inherited chromosomal translocation: Detection by cytogenetic microarray in INDIAN PEDIATRICS
  • 2017-08 Hotspots in PTPN11 gene among Indian children with Noonan syndrome in INDIAN PEDIATRICS
  • 2017-03 Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2 in THE INDIAN JOURNAL OF PEDIATRICS
  • 2017 Rheumatic Manifestations of Genetic Disorders and Hemophilia in PEDIATRIC RHEUMATOLOGY
  • 2016-12 Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux in JOURNAL OF GENETICS
  • 2016-11 Infantile Systemic Hyalinosis with Mutation in ANTXR2 in THE INDIAN JOURNAL OF PEDIATRICS
  • 2016-09 Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene in THE INDIAN JOURNAL OF PEDIATRICS
  • 2016-08 Metatropic dysplasia with a novel mutation in TRPV4 in INDIAN PEDIATRICS
  • 2016-08 Floating Harbor Syndrome in THE INDIAN JOURNAL OF PEDIATRICS
  • 2016-06 Smith-Magenis Syndrome: Face Speaks in THE INDIAN JOURNAL OF PEDIATRICS
  • 2016-03 Consanguinity as an Adjunct Diagnostic Tool in THE INDIAN JOURNAL OF PEDIATRICS
  • 2016-03 Worsening of callus hyperplasia after bisphosphonate treatment in type V osteogenesis imperfecta in INDIAN PEDIATRICS
  • 2016-03 Knowledge of Cord Blood Banking in General Population and Doctors: A Questionnaire Based Survey in THE INDIAN JOURNAL OF PEDIATRICS
  • 2016-02 Hunter syndrome in northern India: Clinical features and mutation spectrum in INDIAN PEDIATRICS
  • 2015-12 Lysosomal storage disorders: Present and future in INDIAN PEDIATRICS
  • 2015-05 Symmetrical Terminal Transverse Limb Deficiencies in THE INDIAN JOURNAL OF PEDIATRICS
  • 2015-05 Feasibility Study of an Outreach Program of Newborn Screening in Uttar Pradesh in THE INDIAN JOURNAL OF PEDIATRICS
  • 2015-02 White matter changes in GM1 gangliosidosis in INDIAN PEDIATRICS
  • 2015-01 Prenatal diagnosis in India is not limited to sex selection in GENETICS IN MEDICINE
  • 2015-01 Erratum to: Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India in INDIAN PEDIATRICS
  • 2014-12 De novo SOX11 mutations cause Coffin–Siris syndrome in NATURE COMMUNICATIONS
  • 2014-09 Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India in INDIAN PEDIATRICS
  • 2014-08 Genetic variation of TBX21 gene increases risk of asthma and its severity in Indian children in JOURNAL OF HUMAN GENETICS
  • 2014-06 Fibrodysplasia Ossificans Progressiva: Three Indian Patients with Mutation in the ACVR1 Gene in THE INDIAN JOURNAL OF PEDIATRICS
  • 2014-05 Research Letters in INDIAN PEDIATRICS
  • 2014-01 Microarray based global transcriptome profiling reveals involvement of non-Hsa21 genes and microRNAs in molecular mechanism of Down syndrome pathogenesis in MOLECULAR CYTOGENETICS
  • 2014-01 Oxidant–antioxidant imbalance in the serum of Myotonic Dystrophy type 1 (DM1) patients correlates with the progression of disease in MOLECULAR CYTOGENETICS
  • 2014-01 Molecular analysis of mucopolysaccharidoses: identification and characterization of pathogenic mutations in Indian population in MOLECULAR CYTOGENETICS
  • 2014-01 Cytogenetic microarray in prenatal and postnatal diagnosis in MOLECULAR CYTOGENETICS
  • 2014-01 STR Markers in clinics: a rapid prenatal diagnosis by quantitative fluorescent-pcr for aneuploidies in MOLECULAR CYTOGENETICS
  • 2013-09 Genetic testing in children in INDIAN PEDIATRICS
  • 2013-07 Syndromic versus nonsyndromic atlantoaxial dislocation: do clinico-radiological differences have a bearing on management? in ACTA NEUROCHIRURGICA
  • 2012-12 Analysis of Short Stature Cases Referred for Genetic Evaluation in THE INDIAN JOURNAL OF PEDIATRICS
  • 2012-11 Further characterization of ATP6V0A2-related autosomal recessive cutis laxa in HUMAN GENETICS
  • 2012-10 Spectrum of lysosomal storage disorders at a medical genetics center in Northern India in INDIAN PEDIATRICS
  • 2012-03 Profile of patients with Von Gierke disease from India in INDIAN PEDIATRICS
  • 2011-11 Prenatal diagnosis of Pompe disease — Enzyme assay or molecular testing? in INDIAN PEDIATRICS
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