Found: 38
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Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walker malformation - a yet uncharacterized syndrome.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 5, p. 470, doi. 10.1111/cge.12830
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- Article
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.
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- Clinical Genetics, 2015, v. 87, n. 2, p. 161, doi. 10.1111/cge.12342
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- Article
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation.
- Published in:
- Clinical Genetics, 2014, v. 86, n. 6, p. 530, doi. 10.1111/cge.12316
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- Article
Prevalence of neonatal hypothyroidism in Kangra Valley, Himachal Pradesh.
- Published in:
- European Journal of Clinical Nutrition, 2014, v. 68, n. 6, p. 748, doi. 10.1038/ejcn.2014.71
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- Article
Status of iodine deficiency in district Kangra, Himachal Pradesh after 60 years of salt iodization.
- Published in:
- European Journal of Clinical Nutrition, 2013, v. 67, n. 8, p. 827, doi. 10.1038/ejcn.2013.119
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- Article
Cystic fibrosis in India.
- Published in:
- Pediatric Pulmonology, 2007, v. 42, n. 12, p. 1087, doi. 10.1002/ppul.20677
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- Article
Conventional vs virtual autopsy with postmortem MRI in phenotypic characterization of stillbirths and fetal malformations.
- Published in:
- 2018
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- Publication type:
- journal article
EP10.30: A rare case of recurrent Escobar syndrome diagnosed on ultrasound.
- Published in:
- 2016
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- Publication type:
- journal article
Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India.
- Published in:
- Indian Pediatrics, 2011, v. 48, n. 10, p. 779, doi. 10.1007/s13312-011-0128-4
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- Article
Prenatal diagnosis in hemophilia A using factor VIII gene polymorphism—Indian experience.
- Published in:
- Annals of Hematology, 2003, v. 82, n. 7, p. 427, doi. 10.1007/s00277-003-0670-9
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- Publication type:
- Article
Novel missense mutation in the coagulation factor IX catalytic domain associated with severe haemophilia B– Factor IX<sub>Delhi</sub>.
- Published in:
- Haemophilia, 2004, v. 10, n. 5, p. 550, doi. 10.1111/j.1365-2516.2004.00948.x
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- Article
Factor VIII gene polymorphisms in the Asian Indian population.
- Published in:
- Haemophilia, 2000, v. 6, n. 6, p. 625, doi. 10.1046/j.1365-2516.2000.00442.x
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- Article
Vitamin A responsive night blindness in Dent's disease.
- Published in:
- 2009
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- Publication type:
- Journal Article
Juvenile rheumatoid arthritis with myelofibrosis with myeloid metaplasia.
- Published in:
- 2005
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- Publication type:
- journal article
Nephrogenic diabetes insipidus presenting with developmental delay and intracranial calcification.
- Published in:
- 2005
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- Publication type:
- journal article
Can throat swab after physiotherapy replace sputum for identification of microbial pathogens in children with cystic fibrosis?
- Published in:
- 2004
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- Publication type:
- journal article
Adhalin deficiency: an unusual cause of muscular dystrophy.
- Published in:
- 2001
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- Publication type:
- journal article
Congenital adrenal hyperplasia presenting as hematuria and acute renal faliure.
- Published in:
- 2001
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- Publication type:
- journal article
Congenital myotonic dystrophy.
- Published in:
- 2001
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- Publication type:
- journal article
Mitochondrial myopathy presenting as ataxia with dilated cardiomyopathy.
- Published in:
- 2001
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- Publication type:
- journal article
Hypocalcemic heart failure masquerading as dilated cardiomyopathy.
- Published in:
- 2001
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- Publication type:
- journal article
Juvenile neuronal ceroid lipofuscinosis.
- Published in:
- 2000
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- Publication type:
- journal article
Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
- Published in:
- 2000
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- Publication type:
- journal article
Fraser-cryptophthalmos syndrome.
- Published in:
- 2000
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- Publication type:
- journal article
Infantile-onset leukoencephalopathy with discrepant mild clinical course.
- Published in:
- 2000
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- Publication type:
- journal article
I-cell disease (Mucolipidosis II).
- Published in:
- 2000
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- Publication type:
- journal article
Biotinidase deficiency--a treatable entity.
- Published in:
- 2000
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- Publication type:
- journal article
Management of Wiskott-Aldrich syndrome.
- Published in:
- 1996
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- Publication type:
- journal article
Cystic fibrosis--an Indian perspective on recent advances in diagnosis and management.
- Published in:
- 1996
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- Publication type:
- journal article
Optimal care for children with Down syndrome in India.
- Published in:
- 1996
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- journal article
Trends in neonatal outcome with low Apgar scores.
- Published in:
- 1993
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- Publication type:
- journal article
Threshold levels of 25-hydroxyvitamin D and parathyroid hormone for impaired bone health in children with congenital ichthyosis and type IV and V skin.
- Published in:
- British Journal of Dermatology, 2015, v. 172, n. 1, p. 208, doi. 10.1111/bjd.13131
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- Publication type:
- Article
A founder ectodysplasin A receptor ( EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.
- Published in:
- British Journal of Dermatology, 2012, v. 166, n. 4, p. 819, doi. 10.1111/j.1365-2133.2011.10707.x
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- Publication type:
- Article
Vitamin D deficiency and rickets in children and adolescents with ichthyosiform erythroderma in type IV and V skin.
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- British Journal of Dermatology, 2012, v. 166, n. 3, p. 608, doi. 10.1111/j.1365-2133.2011.10672.x
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- Article
Ichthyosiform erythroderma with rickets: report of five cases.
- Published in:
- British Journal of Dermatology, 2008, v. 158, n. 3, p. 603, doi. 10.1111/j.1365-2133.2007.08355.x
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- Article
Autosomal recessive epidermolysis bullosa simplex: report of three cases from India.
- Published in:
- Clinical & Experimental Dermatology, 2017, v. 42, n. 7, p. 800, doi. 10.1111/ced.13182
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- Article
Osteoma cutis in pseudohypoparathyroidism.
- Published in:
- Clinical & Experimental Dermatology, 2006, v. 31, n. 2, p. 225, doi. 10.1111/j.1365-2230.2005.02048.x
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- Article
An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in theKIND1gene.
- Published in:
- Clinical & Experimental Dermatology, 2005, v. 30, n. 3, p. 286, doi. 10.1111/j.1365-2230.2004.01712.x
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- Publication type:
- Article