Girisha KM - Search Results

1

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

Pande S, Majethia P, Nair K, Rao LP, Mascarenhas S, Kaur N, do Rosario MC, Neethukrishna K, Chaurasia A, Hunakunti B, Jadhav N, Xavier S, Kumar J, Bhat V, Bhavani GS, Narayanan DL, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Aroor S, Bhat Y R, Lewis LE, Sharma S, Bajaj S, Sankhyan N, Siddiqui S, Nayak SS, Bielas S, Girisha KM, Shukla A. Pande S, et al. Among authors: girisha km. Eur J Hum Genet. 2024 Oct;32(10):1291-1298. doi: 10.1038/s41431-023-01513-7. Epub 2023 Dec 20. Eur J Hum Genet. 2024. PMID: 38114583 Free PMC article.

2

Massive cranial osteolysis, skin changes, growth retardation and developmental delay: Gorham syndrome with systemic manifestations?

Girisha KM, Ganesh HK, Rao L, Srilatha PS. Girisha KM, et al. Am J Med Genet A. 2010 Mar;152A(3):759-63. doi: 10.1002/ajmg.a.33309. Am J Med Genet A. 2010. PMID: 20186788

3

Opsismodysplasia.

Lewis LE, Ramesh Bhat Y, Naik P, Sethi K, Girisha KM. Lewis LE, et al. Among authors: girisha km. Indian J Pediatr. 2010 May;77(5):567-8. doi: 10.1007/s12098-010-0043-z. Epub 2010 Mar 19. Indian J Pediatr. 2010. PMID: 20422326

4

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.

Girisha KM, Lewis LE, Phadke SR, Kutsche K. Girisha KM, et al. Am J Med Genet A. 2010 Nov;152A(11):2861-4. doi: 10.1002/ajmg.a.33687. Am J Med Genet A. 2010. PMID: 20979192

5

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.

6

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

7

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.

8

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis.

Girisha KM, Abdollahpour H, Shah H, Bhavani GS, Graham JM Jr, Boggula VR, Phadke SR, Kutsche K. Girisha KM, et al. Am J Med Genet A. 2014 Apr;164A(4):1035-40. doi: 10.1002/ajmg.a.36381. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458843

9

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country.

Nampoothiri S, Yesodharan D, Sainulabdin G, Narayanan D, Padmanabhan L, Girisha KM, Cathey SS, De Paepe A, Malfait F, Syx D, Hennekam RC, Bonafe L, Unger S, Superti-Furga A. Nampoothiri S, et al. Among authors: girisha km. Am J Med Genet A. 2014 Sep;164A(9):2317-23. doi: 10.1002/ajmg.a.36668. Epub 2014 Jul 14. Am J Med Genet A. 2014. PMID: 25044831

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

285 results

Search Page

Filters