Ranganath P - Search Results

1

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.

Deshpande D, Gupta SK, Sarma AS, Ranganath P, Jain S JMN, Sheth J, Mistri M, Gupta N, Kabra M, Phadke SR, Girisha KM, Dua Puri R, Aggarwal S, Datar C, Mandal K, Tilak P, Muranjan M, Bijarnia-Mahay S, Rama Devi A R, Tayade NB, Ranjan A, Dalal AB. Deshpande D, et al. Among authors: ranganath p. Hum Mutat. 2021 Oct;42(10):1336-1350. doi: 10.1002/humu.24263. Epub 2021 Aug 3. Hum Mutat. 2021. PMID: 34273913

2

Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.

Phadke SR, Fischer B, Gupta N, Ranganath P, Kabra M, Kornak U. Phadke SR, et al. Among authors: ranganath p. Indian J Med Res. 2010 Apr;131:508-14. Indian J Med Res. 2010. PMID: 20424301 Free article.

3

COL1A1 mutation in an Indian child with Caffey disease.

Ranganath P, Laine CM, Gupta D, Mäkitie O, Phadke SR. Ranganath P, et al. Indian J Pediatr. 2011 Jul;78(7):877-9. doi: 10.1007/s12098-010-0339-z. Epub 2011 Jan 20. Indian J Pediatr. 2011. PMID: 21249479

4

Angelman syndrome and prenatally diagnosed Prader-Willi syndrome in first cousins.

Ranganath P, Agarwal M, Phadke SR. Ranganath P, et al. Am J Med Genet A. 2011 Nov;155A(11):2788-90. doi: 10.1002/ajmg.a.34234. Epub 2011 Sep 30. Am J Med Genet A. 2011. PMID: 21964995

5

Spectrum of Lysosomal storage disorders at a medical genetics center in northern India.

Verma PK, Ranganath P, Dalal AB, Phadke SR. Verma PK, et al. Among authors: ranganath p. Indian Pediatr. 2012 Oct;49(10):799-804. doi: 10.1007/s13312-012-0192-4. Epub 2012 Mar 30. Indian Pediatr. 2012. PMID: 22791670 Free article.

6

Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: new syndrome?

Phadke SR, Ranganath P, Boggula VR, Gupta D, Phadke RV, Sloman M, Turnpenny PD. Phadke SR, et al. Among authors: ranganath p. Am J Med Genet A. 2012 Dec;158A(12):3065-70. doi: 10.1002/ajmg.a.35607. Epub 2012 Nov 19. Am J Med Genet A. 2012. PMID: 23166036

7

Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India.

Ranganath P, Sharma V, Danda S, Nandineni MR, Dalal AB. Ranganath P, et al. Indian J Med Res. 2012 Dec;136(6):1048-50. Indian J Med Res. 2012. PMID: 23391804 Free PMC article. No abstract available.

8

Congenital metacarpal pseudoarthrosis, cleft palate, short stature, advanced bone age, and genu valgum: a new syndrome or a variant of Devriendt syndrome?

Ranganath P, Dalal AB. Ranganath P, et al. Clin Dysmorphol. 2013 Apr;22(2):73-75. doi: 10.1097/MCD.0b013e32835f9aa2. Clin Dysmorphol. 2013. PMID: 23448907 No abstract available.

9

Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India.

Bashyam MD, Chaudhary AK, Kiran M, Nagarajaram HA, Devi RR, Ranganath P, Dalal A, Bashyam L, Gupta N, Kabra M, Muranjan M, Puri RD, Verma IC, Nampoothiri S, Kadandale JS. Bashyam MD, et al. Among authors: ranganath p. J Cell Biochem. 2014 Mar;115(3):566-74. doi: 10.1002/jcb.24692. J Cell Biochem. 2014. PMID: 24130151

10

A novel combined 15q11.2 duplication and a bisatellited supernumerary marker derived from chromosome 22: molecular characterization of the marker.

Dutta UR, Vempally S, Ranganath P, Dalal A. Dutta UR, et al. Among authors: ranganath p. Gene. 2014 Apr 10;539(1):162-7. doi: 10.1016/j.gene.2014.02.002. Epub 2014 Feb 5. Gene. 2014. PMID: 24508374

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