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Items: 1 to 20 of 106

1.

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Bürgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ.

J Clin Immunol. 2016 Jul;36(5):529-530. No abstract available.

2.

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Bürgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ.

J Clin Immunol. 2016 Apr;36(3):220-34. doi: 10.1007/s10875-016-0252-y. Epub 2016 Mar 8. Erratum in: J Clin Immunol. 2016 Jul;36(5):529-30.

3.

Novel and recurrent mutations in WISP3 and an atypical phenotype.

Bhavani GS, Shah H, Dalal AB, Shukla A, Danda S, Aggarwal S, Phadke SR, Gupta N, Kabra M, Gowrishankar K, Gupta A, Bhat M, Puri RD, Bijarnia-Mahay S, Nampoothiri S, Mohanasundaram KM, Rajeswari S, Kulkarni AM, Kulkarni ML, Ranganath P, Ramadevi AR, Hariharan SV, Girisha KM.

Am J Med Genet A. 2015 Oct;167A(10):2481-4. doi: 10.1002/ajmg.a.37164. Epub 2015 May 18. No abstract available.

PMID:
25988854
4.

Cerebrotendinous xanthomatosis: an early diagnosis by biochemical tests.

Kulkarni ML, Sreedhara MS, Kashinath SK, Kulkarni AM.

Indian J Pediatr. 2014 Aug;81(8):840-1. doi: 10.1007/s12098-013-1325-z. Epub 2014 Feb 21. No abstract available.

PMID:
24553972
5.

Molecular basis of β-thalassemia in Karnataka, India.

Kulkarni GD, Kulkarni SS, Kadakol GS, Kulkarni BB, Kyamangoudar PH, Lakkakula BV, Thangaraj K, Shepur TA, Kulkarni ML, Gai PB.

Genet Test Mol Biomarkers. 2012 Feb;16(2):138-41. doi: 10.1089/gtmb.2011.0035. Epub 2011 Oct 6.

PMID:
21978377
6.

Cystic bone tuberculosis.

Kulkarni ML, Kulkarni AJ, Pujar MS, Patil AK, Shanbhag MM, Singanal H, Kulkarni AM.

Indian J Pediatr. 2011 Nov;78(11):1431-2. doi: 10.1007/s12098-011-0455-4. Epub 2011 Jun 10. No abstract available.

PMID:
21660404
7.

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.

Briggs TA, Rice GI, Daly S, Urquhart J, Gornall H, Bader-Meunier B, Baskar K, Baskar S, Baudouin V, Beresford MW, Black GC, Dearman RJ, de Zegher F, Foster ES, Francès C, Hayman AR, Hilton E, Job-Deslandre C, Kulkarni ML, Le Merrer M, Linglart A, Lovell SC, Maurer K, Musset L, Navarro V, Picard C, Puel A, Rieux-Laucat F, Roifman CM, Scholl-Bürgi S, Smith N, Szynkiewicz M, Wiedeman A, Wouters C, Zeef LA, Casanova JL, Elkon KB, Janckila A, Lebon P, Crow YJ.

Nat Genet. 2011 Feb;43(2):127-31. doi: 10.1038/ng.748. Epub 2011 Jan 9.

8.

Bullying among school children: prevalence and association with common symptoms in childhood.

Ramya SG, Kulkarni ML.

Indian J Pediatr. 2011 Mar;78(3):307-10. doi: 10.1007/s12098-010-0219-6. Epub 2010 Oct 20.

PMID:
20960076
9.

Antenatal diagnosis of Larsen syndrome.

Kulkarni ML, Basha MH, Hegade S, Kumarasamy TA, Kulkarni AM.

Indian J Pediatr. 2010 Jul;77(7):819-20. doi: 10.1007/s12098-010-0110-5. No abstract available.

PMID:
20589471
10.

Fetal intracranial calcification: pseudo-TORCH phenotype and discussion of related phenotypes.

Kulkarni AM, Baskar S, Kulkarni ML, Kulkarni AJ, Mahuli AV, Vittalrao S, Kulkarni PM.

Am J Med Genet A. 2010 Apr;152A(4):930-7. doi: 10.1002/ajmg.a.33358.

PMID:
20358603
11.

Adams-Oliver syndrome: Additions to the clinical features and possible role of BMP pathway.

Baskar S, Kulkarni ML, Kulkarni AM, Vittalrao S, Kulkarni PM.

Am J Med Genet A. 2009 Aug;149A(8):1678-84. doi: 10.1002/ajmg.a.32938.

PMID:
19606482
12.

'Thinfat' phenotype in newborns.

Kulkarni ML, Mythri HP, Kulkarni AM.

Indian J Pediatr. 2009 Apr;76(4):369-73. doi: 10.1007/s12098-009-0010-8. Epub 2009 Feb 10.

PMID:
19205651
13.

Kallmann's syndrome.

Kulkarni ML, Balaji MD, Kulkarni AM, Sushanth S, Kulkarni BM.

Indian J Pediatr. 2007 Dec;74(12):1113-5.

PMID:
18174649
14.

Baseline Widal titres in healthy children.

Patil AM, Kulkarni ML, Kulkarni AM.

Indian J Pediatr. 2007 Dec;74(12):1081-3.

PMID:
18174641
15.

Absence of Wharton's jelly around the umbilical arteries.

Kulkarni ML, Matadh PS, Ashok C, Pradeep N, Avinash T, Kulkarni AM.

Indian J Pediatr. 2007 Aug;74(8):787-9.

PMID:
17785908
16.

Osteopetrosis with Arnold Chiari malformation type I and brain stem compression.

Kulkarni ML, Marakkanavar SN, Sushanth S, Pradeep N, Ashok C, Balaji MD, Sajith KP, Srinivas G.

Indian J Pediatr. 2007 Apr;74(4):412-5.

PMID:
17476090
17.

Eventration of the diaphragm and associations.

Kulkarni ML, Sneharoopa B, Vani HN, Nawaz S, Kannan B, Kulkarni PM.

Indian J Pediatr. 2007 Feb;74(2):202-5.

PMID:
17337837
18.

Hyperekplexia in two siblings.

Kulkarni ML, Kannan B, Mathadh P.

Indian J Pediatr. 2006 Dec;73(12):1109-11.

PMID:
17202641
19.

A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia.

Kulkarni ML, Baskar K, Kulkarni PM.

Am J Med Genet A. 2007 Jan 1;143A(1):69-75.

PMID:
17163538
20.

Fetal valproate syndrome.

Kulkarni ML, Zaheeruddin M, Shenoy N, Vani HN.

Indian J Pediatr. 2006 Oct;73(10):937-9.

PMID:
17090909

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