Girisha KM - Search Results

1

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.

Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, Nayak SS, Shukla A, Dieterich K, Faure J, Rendu J, Capri Y, Latypova X, Nickerson DA, Warshaw DM, Janssen PML; University of Washington Center for Mendelian Genomics; Amacher SL, Bamshad MJ. Chong JX, et al. Among authors: girisha km. Am J Hum Genet. 2020 Aug 6;107(2):293-310. doi: 10.1016/j.ajhg.2020.06.014. Epub 2020 Jul 23. Am J Hum Genet. 2020. PMID: 32707087 Free PMC article.

2

Prenatal diagnosis of absent pulmonary valve confirmed by autopsy.

Vivek G, Shetty RK, Nayak SS, Girisha KM, Naha K. Vivek G, et al. Among authors: girisha km. BMJ Case Rep. 2013 Jan 30;2013:bcr2012007997. doi: 10.1136/bcr-2012-007997. BMJ Case Rep. 2013. PMID: 23371040 Free PMC article.

3

Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder.

Nayak SS, Adiga PK, Rai L, Girisha KM. Nayak SS, et al. Among authors: girisha km. Genet Couns. 2012;23(4):487-91. Genet Couns. 2012. PMID: 23431749

4

Jejunal atresia and postaxial polydactyly: a newly recognized phenotype.

Girisha KM, Nayak SS, Rawal A, Roopa PS, Shetty J. Girisha KM, et al. Clin Dysmorphol. 2013 Jul;22(3):121-123. doi: 10.1097/MCD.0b013e32836303a7. Clin Dysmorphol. 2013. PMID: 23722701 No abstract available.

5

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

Stephen J, Shukla A, Dalal A, Girisha KM, Shah H, Gupta N, Kabra M, Dabadghao P, Hasegawa K, Tanaka H, Phadke SR. Stephen J, et al. Among authors: girisha km. Am J Med Genet A. 2014 Jun;164A(6):1482-9. doi: 10.1002/ajmg.a.36481. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668929

6

Fetal akinesia deformation sequence: expanding the phenotypic spectrum.

Nayak SS, Kadavigere R, Mathew M, Kumar P, Hall JG, Girisha KM. Nayak SS, et al. Among authors: girisha km. Am J Med Genet A. 2014 Oct;164A(10):2643-8. doi: 10.1002/ajmg.a.36673. Epub 2014 Jul 8. Am J Med Genet A. 2014. PMID: 25045026

7

Symmetrical terminal transverse limb deficiencies.

Agarwal D, Nayak SS, Adiga PK, Phadke SR, Girisha KM. Agarwal D, et al. Among authors: girisha km. Indian J Pediatr. 2015 May;82(5):478-9. doi: 10.1007/s12098-014-1569-2. Epub 2014 Nov 5. Indian J Pediatr. 2015. PMID: 25366287 No abstract available.

8

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

Stephen J, Girisha KM, Dalal A, Shukla A, Shah H, Srivastava P, Kornak U, Phadke SR. Stephen J, et al. Among authors: girisha km. Eur J Med Genet. 2015 Jan;58(1):21-7. doi: 10.1016/j.ejmg.2014.10.001. Epub 2014 Oct 24. Eur J Med Genet. 2015. PMID: 25450603

9

Anomalies associated with single umbilical artery at perinatal autopsy.

Nayak SS, Shukla A, Girisha KM. Nayak SS, et al. Among authors: girisha km. Indian Pediatr. 2015 Jan;52(1):73-4. doi: 10.1007/s13312-015-0574-5. Indian Pediatr. 2015. PMID: 25638195 Free article.

10

Clinical utility of fetal autopsy and its impact on genetic counseling.

Nayak SS, Shukla A, Lewis L, Kadavigere R, Mathew M, Adiga PK, Vasudeva A, Kumar P, Shetty J, Shah H, Girisha KM. Nayak SS, et al. Among authors: girisha km. Prenat Diagn. 2015 Jul;35(7):685-91. doi: 10.1002/pd.4592. Epub 2015 Apr 5. Prenat Diagn. 2015. PMID: 25763538

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