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Mutational Analysis of Androgen Receptor Gene in Two Families with Androgen Insensitivity.
Published in:
Indian Journal of Endocrinology & Metabolism, 2017, v. 21, n. 4, p. 520, doi. 10.4103/ijem.IJEM_345_16
By:
- Akella, Radha Ramadevi
Publication type:
Article
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2719, doi. 10.1002/ajmg.a.37817
By:
- Ranganath, Prajnya;
- Matta, Divya;
- Bhavani, Gandham SriLakshmi;
- Wangnekar, Savita;
- Jain, Jamal Mohammed Nurul;
- Verma, Ishwar C.;
- Kabra, Madhulika;
- Puri, Ratna Dua;
- Danda, Sumita;
- Gupta, Neerja;
- Girisha, Katta M.;
- Sankar, Vaikom H.;
- Patil, Siddaramappa J.;
- Ramadevi, Akella Radha;
- Bhat, Meenakshi;
- Gowrishankar, Kalpana;
- Mandal, Kausik;
- Aggarwal, Shagun;
- Tamhankar, Parag Mohan;
- Tilak, Preetha
Publication type:
Article
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 6, p. 598, doi. 10.1038/ejhg.2011.269
By:
- de Munnik, Sonja A;
- Bicknell, Louise S;
- Aftimos, Salim;
- Al-Aama, Jumana Y;
- van Bever, Yolande;
- Bober, Michael B;
- Clayton-Smith, Jill;
- Edrees, Alaa Y;
- Feingold, Murray;
- Fryer, Alan;
- van Hagen, Johanna M;
- Hennekam, Raoul C;
- Jansweijer, Maaike C E;
- Johnson, Diana;
- Kant, Sarina G;
- Opitz, John M;
- Ramadevi, A Radha;
- Reardon, Willie;
- Ross, Alison;
- Sarda, Pierre
Publication type:
Article
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.
Published in:
BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0759-1
By:
- Sheth, Jayesh;
- Bhavsar, Riddhi;
- Mistri, Mehul;
- Pancholi, Dhairya;
- Bavdekar, Ashish;
- Dalal, Ashwin;
- Ranganath, Prajnya;
- Girisha, Katta M;
- Shukla, Anju;
- Phadke, Shubha;
- Puri, Ratna;
- Panigrahi, Inusha;
- Kaur, Anupriya;
- Muranjan, Mamta;
- Goyal, Manisha;
- Ramadevi, Radha;
- Shah, Raju;
- Nampoothiri, Sheela;
- Danda, Sumita;
- Datar, Chaitanya
Publication type:
Article
Prenatal detection of deletion-duplication of chromosome 3 arising from meiotic recombination of a familial pericentric inversion.
Published in:
Prenatal Diagnosis, 2008, v. 28, n. 5, p. 466, doi. 10.1002/pd.2005
By:
- Prabhakara, K.;
- Bruno, Damien L.;
- Padman, Priya;
- Prasad, Suma;
- Sudheer Kumar, R.;
- Slater, Howard R.;
- Radha Ramadevi, A.
Publication type:
Article
Congenital Disorder of Glycosylation (CDG) Presenting as Non-immune Hydrops Fetalis.
Published in:
2016
By:
- Panigrahy, Nalinikanta;
- Lingappa, Lokesh;
- Ramadevi, Akela;
- Venkatlakshmi, Alla;
- Ramadevi, Akela Radha
Publication type:
Case Study

Found: 6

Mutational Analysis of Androgen Receptor Gene in Two Families with Androgen Insensitivity.

Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Prenatal detection of deletion-duplication of chromosome 3 arising from meiotic recombination of a familial pericentric inversion.

Congenital Disorder of Glycosylation (CDG) Presenting as Non-immune Hydrops Fetalis.