Found: 26
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Retinoblastoma in India.
- Published in:
- Molecular Diagnosis & Therapy, 2007, v. 11, n. 1, p. 63, doi. 10.1007/BF03256223
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- Publication type:
- Article
Normative Data of Thyroid Gland Volume in South Indian Neonates and Infants.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Congenital Hypothyroidism: Recent Indian data.
- Published in:
- 2015
- By:
- Publication type:
- Letter to the Editor
Normative data for stretched penile length in term neonates born in Tamil Nadu.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2014, v. 18, n. 4, p. 585, doi. 10.4103/2230-8210.137500
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- Publication type:
- Article
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 888, doi. 10.1038/ejhg.2013.154
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- Publication type:
- Article
Is Estimation of HbA2 Alone Sufficient for Screening Beta Thalassaemia Carriers: A Case in Perspective.
- Published in:
- Journal of Clinical & Diagnostic Research, 2023, v. 17, n. 12, p. 1, doi. 10.7860/JCDR/2023/67494.18819
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- Publication type:
- Article
Featured Cover.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 6, p. 1, doi. 10.1111/cge.13971
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- Publication type:
- Article
Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 6, p. 823, doi. 10.1111/cge.13941
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- Publication type:
- Article
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 3, p. 398, doi. 10.1111/cge.13468
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- Publication type:
- Article
Second trimester diagnosis of Neu Laxova syndrome.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 1, p. 21, doi. 10.1002/pd.485
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- Publication type:
- Article
Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations.
- Published in:
- Indian Pediatrics, 2011, v. 48, n. 7, p. 559, doi. 10.1007/s13312-011-0086-x
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- Publication type:
- Article
Prenatal Diagnosis of Restrictive Dermopathy.
- Published in:
- 2009
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- Publication type:
- Case Study
Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.
- Published in:
- Endocrine (1355008X), 2021, v. 71, n. 1, p. 189, doi. 10.1007/s12020-020-02494-z
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- Publication type:
- Article
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract.
- Published in:
- Human Genetics, 2023, v. 142, n. 3, p. 457, doi. 10.1007/s00439-022-02518-w
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- Publication type:
- Article
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 82, doi. 10.1002/jmd2.12156
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- Publication type:
- Article
Utility and performance of bacterial artificial chromosomes‐on‐beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2019, v. 45, n. 4, p. 830, doi. 10.1111/jog.13920
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- Publication type:
- Article
Bain type of X‐linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 183, doi. 10.1002/ajmg.a.61388
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- Publication type:
- Article
Ptosis as a unique hallmark for autosomal recessive WNT1‐associated osteogenesis imperfecta.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 908, doi. 10.1002/ajmg.a.61119
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- Publication type:
- Article
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 588, doi. 10.1002/ajmg.a.38064
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- Publication type:
- Article
Cover Image, Volume 173A, Number 3, March 2017.
- Published in:
- 2017
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- Publication type:
- Other
Fanconi-Bickel Syndrome.
- Published in:
- Indian Journal of Pediatrics, 2012, v. 79, n. 1, p. 112, doi. 10.1007/s12098-011-0373-5
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- Publication type:
- Article
Perinatal outcome after multifetal pregnancy reduction.
- Published in:
- Indian Journal of Pediatrics, 2008, v. 75, n. 9, p. 907, doi. 10.1007/s12098-008-0184-5
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- Publication type:
- Article
Triple X syndrome with rare phenotypic presentation.
- Published in:
- Indian Journal of Pediatrics, 2008, v. 75, n. 6, p. 629, doi. 10.1007/s12098-008-0120-8
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- Publication type:
- Article
A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 2, p. 1, doi. 10.1002/mgg3.2402
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- Publication type:
- Article
Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario.
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.612316
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- Publication type:
- Article
Citrullinemia type 1: Genetic diagnosis and prenatal diagnosis in subsequent pregnancy.
- Published in:
- Indian Pediatrics, 2013, v. 50, n. 10, p. 965, doi. 10.1007/s13312-013-0239-1
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- Publication type:
- Article