174 results on '"Jagadeesh, Sujatha"'
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2. Uveal Effusion Syndrome Due to WNT10A Mutation.
3. Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease
4. Late onset Pompe Disease in India – Beyond the Caucasian phenotype
5. The promise of discovering population-specific disease-associated genes in South Asia
6. Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India
7. Down’s Syndrome Screening in the First Trimester with Additional Serum Markers: Indian Parameters
8. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
9. The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients
10. Normative Data of Thyroid Gland Volume in South Indian Neonates and Infants
11. A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage.
12. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
13. The First Trimester Combined Screening Test in the Indian Population: Insights from a Cohort of 27,647 Pregnancies
14. Is Estimation of HbA2 Alone Sufficient for Screening Beta Thalassaemia Carriers: A Case in Perspective.
15. Additional Three Patients with Smith-McCort Dysplasia Due to Novel RAB33B Mutations
16. Prenatal Sonographic Features and Postnatal Outcome of Congenital Posteromedial Bowing of Tibia: An Experience from a Tertiary Fetal Medicine Center
17. Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers
18. Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability
19. Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations
20. Featured Cover
21. Novel pathogenic variants inNLRP7,NLRP5 ,andPADI6in patients with recurrent hydatidiform moles and reproductive failure
22. Novel pathogenic variant c.2714C>A (p. Thr905Lys) in theHK1gene causing severe haemolytic anaemia with developmental delay in an Indian family
23. Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario
24. Fanconi–Bickel Syndrome
25. Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India
26. Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients
27. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
28. Triple X syndrome with rare phenotypic presentation
29. Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1 gene causing severe haemolytic anaemia with developmental delay in an Indian family.
30. Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.
31. Bain type of X‐linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2
32. Ptosis as a unique hallmark for autosomal recessive WNT1‐associated osteogenesis imperfecta
33. Down’s Syndrome Screening in the First Trimester with Additional Serum Markers: Indian Parameters
34. Utility and performance of bacterial artificial chromosomes‐on‐beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples
35. Citrullinemia type 1: Genetic diagnosis and prenatal diagnosis in subsequent pregnancy
36. Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.
37. Bain type of X‐linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.
38. Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome
39. A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV)
40. Idiopathic Arterial Calcification: Experience from a Single Center in South India
41. Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1gene causing severe haemolytic anaemia with developmental delay in an Indian family
42. Clinical application of a novel next generation sequencing assay for CYP21A2gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India
43. Persistent Left Superior Vena Cava in Fetuses: An Autopsy Series
44. Cover Image, Volume 173A, Number 3, March 2017
45. Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.
46. Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases
47. The promise of disease gene discovery in South Asia
48. Mutations in ARSB in MPS VI patients in India
49. Congenital Hypothyroidism: Recent Indian data
50. Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy
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