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Sirenomelia: Case Reports and Current Concepts of Pathogenesis.
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- Pediatric & Developmental Pathology, 2012, v. 15, n. 5, p. 403, doi. 10.2350/12-05-1199-CC.1
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- Article
Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene.
- Published in:
- 2014
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- Publication type:
- journal article
Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy.
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- Laboratory Medicine, 2016, v. 47, n. 2, p. 171, doi. 10.1093/labmed/lmw005
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- Article
Screening for TBX1 Gene in Children With or Without Microdeletion of Chromosome 22q11 and Conotruncal Defect.
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- Laboratory Medicine, 2012, v. 43, n. 2, p. 11, doi. 10.1309/LM6J2DF1XZJZYPFC
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- Publication type:
- Article
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-78
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- Publication type:
- Article
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
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- 2013
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- Publication type:
- journal article
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.
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- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-61
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- Publication type:
- Article
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.
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- 2012
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- Publication type:
- journal article
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.
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- 2021
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- Publication type:
- journal article
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
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- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00613-9
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- Article
PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
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- Human Genetics, 2021, v. 140, n. 6, p. 879, doi. 10.1007/s00439-020-02251-2
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- Article
The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1666
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- Article
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
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- Journal of Human Genetics, 2015, v. 60, n. 5, p. 285, doi. 10.1038/jhg.2015.27
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- Article
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
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- Journal of Human Genetics, 2014, v. 59, n. 4, p. 223, doi. 10.1038/jhg.2014.5
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- Article
Monosomy 1p36: Report of a cohort of 13 Asian Indian patients.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1317, doi. 10.1002/ajmg.a.62630
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- Article
Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 751, doi. 10.1002/ajmg.a.62566
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- Article
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2345, doi. 10.1002/ajmg.a.62241
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- Article
Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 620, doi. 10.1002/ajmg.a.61971
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- Article
Turner syndrome in diverse populations.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 303, doi. 10.1002/ajmg.a.61461
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- Article
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1091, doi. 10.1002/ajmg.a.61125
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- Article
Ptosis as a unique hallmark for autosomal recessive WNT1‐associated osteogenesis imperfecta.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 908, doi. 10.1002/ajmg.a.61119
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- Article
Cover Image, Volume 179A, Number 5, May 2019.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. i, doi. 10.1002/ajmg.a.61129
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- Article
Variants in the transcriptional corepressor BCORL1 are associated with an X‐linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 870, doi. 10.1002/ajmg.a.61118
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- Article
Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 486, doi. 10.1002/ajmg.a.61034
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- Article
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2930, doi. 10.1002/ajmg.a.40658
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- Publication type:
- Article
Elsahy–Waters syndrome is caused by biallelic mutations in <italic>CDH11</italic>.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 477, doi. 10.1002/ajmg.a.38568
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- Article
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1216, doi. 10.1002/ajmg.a.37564
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- Article
Novel and recurrent mutations in WISP3 and an atypical phenotype.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2481, doi. 10.1002/ajmg.a.37164
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- Article
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2793, doi. 10.1002/ajmg.a.36735
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- Article
Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2317, doi. 10.1002/ajmg.a.36668
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- Article
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2820, doi. 10.1002/ajmg.a.35620
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- Article
Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia.
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- 2016
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- Publication type:
- journal article
Cortical atrophy and hypofibrinogenemia due to <italic>FGG</italic> and <italic>TBCD</italic> mutations in a single family: a case report.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0597-6
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- Article
The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.
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- 2019
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- Publication type:
- journal article
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.
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- PLoS Genetics, 2021, v. 17, n. 2, p. 1, doi. 10.1371/journal.pgen.1009339
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- Article
Loss of function mutations in <italic>VARS</italic> encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
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- Human Genetics, 2018, v. 137, n. 4, p. 293, doi. 10.1007/s00439-018-1882-3
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- Article
An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.
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- International Journal of Dermatology, 2010, v. 49, n. 9, p. 1031, doi. 10.1111/j.1365-4632.2010.04482.x
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- Article
New insights into genotype-phenotype correlation for GLI3 mutations.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 92, doi. 10.1038/ejhg.2014.62
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- Article
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1214, doi. 10.1038/ejhg.2013.29
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- Article
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03300-z
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- Article
Carbonic Anhydrase II Deficiency: A Novel Mutation.
- Published in:
- 2009
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- Case Study
Sly Disease: Mucopolysaccharidosis Type VII.
- Published in:
- 2008
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- Publication type:
- Case Study
Partial Trisomy 9q due to Maternal 9q/17q Translocation.
- Published in:
- 2008
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- Publication type:
- Case Study
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
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- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0986-5
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- Publication type:
- Article
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.
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- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0759-1
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- Article
Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype.
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- Congenital Anomalies, 2019, v. 59, n. 1, p. 26, doi. 10.1111/cga.12285
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- Article
Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India.
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- Clinical Rheumatology, 2020, v. 39, n. 9, p. 2743, doi. 10.1007/s10067-020-05020-8
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- Article
Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain.
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- Life Science Alliance, 2022, v. 5, n. 10, p. 1, doi. 10.26508/lsa.202201512
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- Article
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
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- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 2, p. 85, doi. 10.1002/jmd2.12407
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- Article
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 82, doi. 10.1002/jmd2.12156
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- Article