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Two sisters with RSPRY1‐related spondyloepimetaphyseal dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63601
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- Publication type:
- Article
PRKACA‐related, atrial defects‐polydactyly‐multiple congenital malformation syndrome in an Indian patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63566
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- Publication type:
- Article
Basan syndrome in a family from South India: a novel SMARCAD1 variant.
- Published in:
- Clinical & Experimental Dermatology, 2024, v. 49, n. 4, p. 437, doi. 10.1093/ced/llad393
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- Publication type:
- Article
Rare genetic diseases in India: Steps toward a nationwide mission program.
- Published in:
- Journal of Biosciences, 2024, v. 49, n. 1, p. 1, doi. 10.1007/s12038-024-00430-1
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- Publication type:
- Article
Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting.
- Published in:
- European Journal of Medical Research, 2024, v. 29, n. 1, p. 1, doi. 10.1186/s40001-023-01600-x
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- Publication type:
- Article
Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting.
- Published in:
- European Journal of Medical Research, 2024, v. 29, n. 1, p. 1, doi. 10.1186/s40001-023-01600-x
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- Publication type:
- Article
Cognitive and sleep evaluation of Myotonic dystrophy type I: A protocol for a case‐control study.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.075996
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- Publication type:
- Article
Exome Sequencing in Monogenic Forms of Rickets.
- Published in:
- Indian Journal of Pediatrics, 2023, v. 90, n. 12, p. 1182, doi. 10.1007/s12098-022-04393-9
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- Publication type:
- Article
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
- Published in:
- NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00380-x
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- Publication type:
- Article
Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis.
- Published in:
- Indian Journal of Medical Research, 2023, v. 158, n. 3, p. 319, doi. 10.4103/ijmr.ijmr_3353_21
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- Publication type:
- Article
Duchenne Muscular Dystrophy from Brain to Muscle: The Role of Brain Dystrophin Isoforms in Motor Functions.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 17, p. 5637, doi. 10.3390/jcm12175637
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- Publication type:
- Article
A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81.
- Published in:
- Journal of Gene Medicine, 2023, v. 25, n. 7, p. 1, doi. 10.1002/jgm.3501
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- Publication type:
- Article
Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders.
- Published in:
- Indian Journal of Medical Research, 2023, v. 157, n. 6, p. 577, doi. 10.4103/ijmr.IJMR_2707_20
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- Publication type:
- Article
Genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis.
- Published in:
- Indian Journal of Medical Research, 2023, v. 157, n. 4, p. 363, doi. 10.4103/ijmr.IJMR_3568_20
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- Publication type:
- Article
Does Every Child With Autism Need Investigations for Inborn Errors of Metabolism?
- Published in:
- Indian Pediatrics, 2023, v. 60, n. 3, p. 177, doi. 10.1007/s13312-023-2828-1
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- Publication type:
- Article
Muscle spasms as presenting feature of Nivelon‐Nivelon‐Mabile syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 238, doi. 10.1002/ajmg.a.63000
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- Publication type:
- Article
Prenatal phenotype of FBXL4‐associated encephalomyopathic mitochondrial DNA depletion syndrome‐13.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1682, doi. 10.1002/pd.6272
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- Publication type:
- Article
Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of EYA3/EFCAB4b.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 370, doi. 10.1159/000522011
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- Publication type:
- Article
Microcephalic primordial dwarfism with predominant Meier–Gorlin phenotype, ichthyosis, and multiple joint deformities—Further expansion of DONSON Cell Cycle‐opathy phenotypic spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2139, doi. 10.1002/ajmg.a.62725
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- Publication type:
- Article
Fetal phenotypes of Mendelian disorders: A descriptive study from India.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 7, p. 911, doi. 10.1002/pd.6172
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- Publication type:
- Article
Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study.
- Published in:
- 2022
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- Publication type:
- Journal Article
Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1287, doi. 10.1002/ajmg.a.62622
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- Publication type:
- Article
Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 788, doi. 10.1002/ajmg.a.62579
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- Publication type:
- Article
Indian Undiagnosed Diseases Program (I-UDP) — The Unmet Need.
- Published in:
- Indian Pediatrics, 2022, v. 59, n. 3, p. 198, doi. 10.1007/s13312-022-2464-y
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- Publication type:
- Article
What We Fail to See in Neuro-Genetic Diseases: A Bird's Eye View from the Developing World.
- Published in:
- Annals of Neurosciences, 2021, v. 27, n. 3/4, p. 91, doi. 10.1177/0972753120950069
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- Publication type:
- Article
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians.
- Published in:
- Human Mutation, 2021, v. 42, n. 4, p. e15, doi. 10.1002/humu.24172
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- Publication type:
- Article
Scope of Genetic Testing for Inherited Cardiovascular Diseases in the Clinical Practice.
- Published in:
- Journal of Indian College of Cardiology, 2021, v. 11, n. 1, p. 5, doi. 10.4103/JICC.JICC_15_20
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- Publication type:
- Article
Untapped opportunities for rare disease gene discovery in India.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3056, doi. 10.1002/ajmg.a.61866
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- Publication type:
- Article
Cytogenetic and molecular study of 370 infertile men in South India highlighting the importance of copy number variations by multiplex ligation‐dependent probe amplification.
- Published in:
- Andrologia, 2020, v. 52, n. 10, p. 1, doi. 10.1111/and.13761
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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
What We Fail to See in Neuro-Genetic Diseases: A Bird's Eye View from the Developing World.
- Published in:
- Annals of Neurosciences, 2020, v. 27, n. 3/4, p. 91, doi. 10.1177/0972753120950069
- By:
- Publication type:
- Article
Exome sequencing for perinatal phenotypes: The significance of deep phenotyping.
- Published in:
- Prenatal Diagnosis, 2020, v. 40, n. 2, p. 260, doi. 10.1002/pd.5616
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- Publication type:
- Article
Exome sequencing for perinatal phenotypes: The significance of deep phenotyping.
- Published in:
- 2020
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- Publication type:
- journal article
Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children.
- Published in:
- Indian Pediatrics, 2019, v. 56, n. 12, p. 1017, doi. 10.1007/s13312-019-1682-4
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- Publication type:
- Article
Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect.
- Published in:
- 2019
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- Publication type:
- Letter
Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India.
- Published in:
- Indian Pediatrics, 2019, v. 56, n. 7, p. 556, doi. 10.1007/s13312-019-1553-z
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- Publication type:
- Article
Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGS.
- Published in:
- Journal of Reproduction & Infertility, 2019, v. 20, n. 2, p. 109
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- Publication type:
- Article
Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 3, p. 177, doi. 10.1159/000496280
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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.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0759-1
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- Publication type:
- Article
Exome sequencing identifies novel ACE splice‐site variant in a fetus with renal tubular dysgenesis.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2018, v. 44, n. 12, p. 2181, doi. 10.1111/jog.13771
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- Publication type:
- Article
“Twig-like” cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report.
- Published in:
- Interventional Neuroradiology, 2018, v. 24, n. 4, p. 463, doi. 10.1177/1591019918765239
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- Publication type:
- Article
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in <italic>PAX1</italic> gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1200, doi. 10.1002/ajmg.a.38659
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- Publication type:
- Article
Novel <italic>RSPO1</italic> mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1006, doi. 10.1002/ajmg.a.38646
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- Publication type:
- Article
Autopsy findings in EPG5‐related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 499, doi. 10.1002/ajmg.a.38575
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- Publication type:
- Article
Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics.
- Published in:
- Indian Pediatrics, 2018, v. 55, n. 2, p. 143, doi. 10.1007/s13312-018-1249-9
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- Publication type:
- Article
Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 34, doi. 10.1002/ajmg.a.38537
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- Publication type:
- Article
Familial choreoathetosis due to novel heterozygous mutation in PDE10A.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 146, doi. 10.1002/ajmg.a.38507
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- Publication type:
- Article
Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 219, doi. 10.1002/ajmg.a.38544
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- Publication type:
- Article
Look Up to Diagnose Down!
- Published in:
- 2017
- By:
- Publication type:
- case study
Variable expressivity and response to bisphosphonate therapy in a family with osteoporosis pseudoglioma syndrome.
- Published in:
- Indian Pediatrics, 2017, v. 54, n. 8, p. 681, doi. 10.1007/s13312-017-1134-y
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- Publication type:
- Article