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Page 1
Complex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1.
Indian J Pediatr. 2023 Jun 19. doi: 10.1007/s12098-023-04652-3. Online ahead of print.
Indian J Pediatr. 2023.
PMID: 37335441
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants.
Moirangthem A, Saxena D, Masih S, Shambhavi A, Nilay M, Phadke SR.
Moirangthem A, et al. Among authors: shambhavi a.
Clin Dysmorphol. 2022 Apr 1;31(2):59-65. doi: 10.1097/MCD.0000000000000407.
Clin Dysmorphol. 2022.
PMID: 34845156
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T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4-related leukoencephalopathy.
Sait H, Shambhavi A, Pandey M, Ravichandran D, Phadke SR.
Sait H, et al. Among authors: shambhavi a.
Am J Med Genet A. 2023 Mar;191(3):864-869. doi: 10.1002/ajmg.a.63084. Epub 2022 Dec 18.
Am J Med Genet A. 2023.
PMID: 36529678
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Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing.
Masih S, Moirangthem A, Shambhavi A, Rai A, Mandal K, Saxena D, Nilay M, Agrawal N, Srivastava S, Sait H, Phadke SR.
Masih S, et al. Among authors: shambhavi a.
Eur J Med Genet. 2022 Jun;65(6):104520. doi: 10.1016/j.ejmg.2022.104520. Epub 2022 May 12.
Eur J Med Genet. 2022.
PMID: 35568357
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Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.
Sait H, Srivastava S, Pandey M, Ravichandran D, Shukla A, Mandal K, Saxena D, Shambhavi A, Majethia P, Rao LP, Sharma S, Phadke SR, Moirangthem A.
Sait H, et al. Among authors: shambhavi a.
Neurogenetics. 2023 Apr;24(2):113-127. doi: 10.1007/s10048-023-00712-0. Epub 2023 Feb 15.
Neurogenetics. 2023.
PMID: 36790591
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Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor.
Shambhavi A, Salian S, Shah H, Nair M, Sharan K, Jin DK, Cho SY, Mathew M, Shukla A, Girisha KM.
Shambhavi A, et al.
J Pediatr Genet. 2018 Mar;7(1):9-13. doi: 10.1055/s-0037-1604100. Epub 2017 Jul 13.
J Pediatr Genet. 2018.
PMID: 29441215
Free PMC article.
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Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.
Moirangthem A, Mandal K, Saxena D, Srivastava P, Gambhir PS, Agrawal N, Shambhavi A, Nampoothiri S, Phadke SR.
Moirangthem A, et al. Among authors: shambhavi a.
Am J Med Genet A. 2021 Aug;185(8):2345-2355. doi: 10.1002/ajmg.a.62241. Epub 2021 May 4.
Am J Med Genet A. 2021.
PMID: 33942996
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