Girisha KM - Search Results

1

Short-term response to phenytoin sodium in Andersen-Tawil syndrome-1 with a cardiac-dominant phenotype.

Rai MK, Pai R, Prabhu MA, Pasha SW, Kedambadi RC, Kamath P, Augustine AJ, Bhavani GS, Girisha KM. Rai MK, et al. Among authors: girisha km. Pacing Clin Electrophysiol. 2019 Feb;42(2):201-207. doi: 10.1111/pace.13569. Epub 2018 Dec 19. Pacing Clin Electrophysiol. 2019. PMID: 30516834

2

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

Girisha KM, Shukla A, Trujillano D, Bhavani GS, Hebbar M, Kadavigere R, Rolfs A. Girisha KM, et al. Clin Genet. 2016 Dec;90(6):536-539. doi: 10.1111/cge.12762. Epub 2016 Mar 15. Clin Genet. 2016. PMID: 26880018

3

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.

Girisha KM, Bidchol AM, Graul-Neumann L, Gupta A, Hehr U, Lessel D, Nader S, Shah H, Wickert J, Kutsche K. Girisha KM, et al. BMC Med Genet. 2016 Apr 6;17:27. doi: 10.1186/s12881-016-0290-6. BMC Med Genet. 2016. PMID: 27048506 Free PMC article.

4

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.

Kotabagi S, Shah H, Shukla A, Girisha KM. Kotabagi S, et al. Among authors: girisha km. Clin Genet. 2017 Sep;92(3):323-326. doi: 10.1111/cge.13006. Epub 2017 Apr 19. Clin Genet. 2017. PMID: 28276056

5

Report of second case and clinical and molecular characterization of Eiken syndrome.

Moirangthem A, Narayanan DL, Jacob P, Nishimura G, Mortier G, Girisha KM. Moirangthem A, et al. Among authors: girisha km. Clin Genet. 2018 Nov;94(5):457-460. doi: 10.1111/cge.13413. Epub 2018 Jul 27. Clin Genet. 2018. PMID: 29987841

6

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.

Cannaerts E, Shukla A, Hasanhodzic M, Alaerts M, Schepers D, Van Laer L, Girisha KM, Hojsak I, Loeys B, Verstraeten A. Cannaerts E, et al. Among authors: girisha km. BMC Med Genet. 2018 Aug 8;19(1):140. doi: 10.1186/s12881-018-0655-0. BMC Med Genet. 2018. PMID: 30089473 Free PMC article.

7

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

Somashekar PH, Girisha KM, Nampoothiri S, Gowrishankar K, Devi RR, Gupta N, Narayanan DL, Kaur A, Bajaj S, Jagadeesh S, Lewis LES, Shailaja S, Shukla A. Somashekar PH, et al. Among authors: girisha km. Clin Genet. 2019 Mar;95(3):398-402. doi: 10.1111/cge.13468. Epub 2018 Nov 27. Clin Genet. 2019. PMID: 30394532

8

Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India.

Uttarilli A, Shah H, Bhavani GS, Upadhyai P, Shukla A, Girisha KM. Uttarilli A, et al. Among authors: girisha km. Bone. 2019 Mar;120:204-211. doi: 10.1016/j.bone.2018.10.026. Epub 2018 Nov 6. Bone. 2019. PMID: 30408610

9

The third family with Eiken syndrome.

Jacob P, Soni JP, Mortier G, Girisha KM. Jacob P, et al. Among authors: girisha km. Clin Genet. 2019 Oct;96(4):378-379. doi: 10.1111/cge.13601. Epub 2019 Jul 11. Clin Genet. 2019. PMID: 31297790 No abstract available.

10

Meckel syndrome: Clinical and mutation profile in six fetuses.

Radhakrishnan P, Nayak SS, Shukla A, Lindstrand A, Girisha KM. Radhakrishnan P, et al. Among authors: girisha km. Clin Genet. 2019 Dec;96(6):560-565. doi: 10.1111/cge.13623. Epub 2019 Aug 21. Clin Genet. 2019. PMID: 31411728

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