Kaur A - Search Results

1

Carrier frequency of Spino-muscular atrophy in individuals of a reproductive age group from North India.

Kaur A, Kumari A, Kaur A, Sharma R, Srivastava P, Suthar R. Kaur A, et al. J Family Med Prim Care. 2022 Dec;11(12):7870-7874. doi: 10.4103/jfmpc.jfmpc_869_22. Epub 2023 Jan 17. J Family Med Prim Care. 2022. PMID: 36994015 Free PMC article.

2

Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect.

Vignesh P, Sharma M, Pilania RK, Shandilya JK, Kaur A, Goel S, Kaur A, Suri D, Rawat A, Dalal A, Sarma AS, Singh S. Vignesh P, et al. Among authors: kaur a. J Clin Immunol. 2019 Aug;39(6):611-615. doi: 10.1007/s10875-019-00661-0. Epub 2019 Jul 23. J Clin Immunol. 2019. PMID: 31338742 No abstract available.

3

Wolf-Hirschhorn syndrome: A case series from India.

Chaudhry C, Kaur A, Panigrahi I, Kaur A. Chaudhry C, et al. Among authors: kaur a. Am J Med Genet A. 2020 Dec;182(12):3048-3051. doi: 10.1002/ajmg.a.61856. Epub 2020 Sep 10. Am J Med Genet A. 2020. PMID: 32914558

4

Association of Child Neurology (AOCN) - Indian Epilepsy Society (IES) Consensus Guidelines for the Diagnosis and Management of West Syndrome.

Sharma S, Kaushik JS, Srivastava K, Goswami JN, Sahu JK, Vinayan KP, Mittal R; Association of Child Neurology – Indian Epilepsy Society Expert Committee. Sharma S, et al. Indian Pediatr. 2021 Jan 15;58(1):54-66. Indian Pediatr. 2021. PMID: 33452776 Free article.

5

Achondroplasia-First Report from India of a Rare FGFR3 Gene Variant.

Chaudhry C, G P, Srivastava P, Das R, Kaur J, Panigrahi I, Kaur A. Chaudhry C, et al. Among authors: kaur a, kaur j. Lab Med. 2021 Sep 1;52(5):499-502. doi: 10.1093/labmed/lmaa116. Lab Med. 2021. PMID: 33511985

6

Ayme gripp syndrome in an Indian patient.

Chaudhry C, Kaur P, Srivastava P, Kaur A. Chaudhry C, et al. Among authors: kaur a, kaur p. Am J Med Genet A. 2021 Apr;185(4):1312-1316. doi: 10.1002/ajmg.a.62053. Epub 2021 Jan 1. Am J Med Genet A. 2021. PMID: 33528093

7

X-linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy.

Gangadaran P, Chaudhry C, Panigrahi I, Kumari A, Kaur A. Gangadaran P, et al. Among authors: kaur a. Am J Med Genet A. 2021 May;185(5):1550-1553. doi: 10.1002/ajmg.a.62134. Epub 2021 Feb 22. Am J Med Genet A. 2021. PMID: 33615695

8

Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India.

Chaudhry C, Kaur P, Srivastava P, Panigrahi I, Kaur A. Chaudhry C, et al. Among authors: kaur a, kaur p. Congenit Anom (Kyoto). 2021 Jul;61(4):140-141. doi: 10.1111/cga.12414. Epub 2021 Mar 23. Congenit Anom (Kyoto). 2021. PMID: 33724566 No abstract available.

9

Rare chromosomal aberrations detected in children with multiple congenital anomalies: utility of multiple ligation dependant probe amplification for developing countries.

Pulipaka S, Kaur A, Bhatia P, Panigrahi I, Kaur A. Pulipaka S, et al. Among authors: kaur a. Clin Dysmorphol. 2021 Jul 1;30(3):125-129. doi: 10.1097/MCD.0000000000000370. Clin Dysmorphol. 2021. PMID: 33859080

10

Long-term epilepsy control, motor function, cognition, sleep and quality of life in children with West syndrome.

Bhanudeep S, Madaan P, Sankhyan N, Saini L, Malhi P, Suthar R, Saini AG, Ahuja CK, Vyas S, Singh P, Kaur A, Singh G, Sharma R, Negi S, Jayashree M, Attri SV, Singhi P, Sahu JK. Bhanudeep S, et al. Among authors: kaur a. Epilepsy Res. 2021 Jul;173:106629. doi: 10.1016/j.eplepsyres.2021.106629. Epub 2021 Apr 2. Epilepsy Res. 2021. PMID: 33862315

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