Found: 26
Select item for more details and to access through your institution.
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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Cover Image, Volume 173A, Number 3, March 2017.
- Published in:
- 2017
- By:
- Publication type:
- Other
Second trimester diagnosis of Neu Laxova syndrome.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 1, p. 21, doi. 10.1002/pd.485
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Prenatal Diagnosis of Restrictive Dermopathy.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
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
- By:
- 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
- By:
- Publication type:
- Article
Featured Cover.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 6, p. 1, doi. 10.1111/cge.13971
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Retinoblastoma in India.
- Published in:
- Molecular Diagnosis & Therapy, 2007, v. 11, n. 1, p. 63, doi. 10.1007/BF03256223
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
Normative Data of Thyroid Gland Volume in South Indian Neonates and Infants.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Fanconi-Bickel Syndrome.
- Published in:
- Indian Journal of Pediatrics, 2012, v. 79, n. 1, p. 112, doi. 10.1007/s12098-011-0373-5
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article