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Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.
Published in:
Clinical Genetics, 2017, v. 92, n. 3, p. 323, doi. 10.1111/cge.13006
By:
- Kotabagi, S.;
- Shah, H.;
- Shukla, A.;
- Girisha, K.M.
Publication type:
Article
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 496, doi. 10.1111/cge.12795
By:
- Uttarilli, A.;
- Ranganath, P.;
- Matta, D.;
- Md Nurul Jain, J.;
- Prasad, K.;
- Babu, A.S.;
- Girisha, K.M.;
- Verma, I.C.;
- Phadke, S.R.;
- Mandal, K.;
- Puri, R.D.;
- Aggarwal, S.;
- Danda, S.;
- Sankar, V.H.;
- Kapoor, S.;
- Bhat, M.;
- Gowrishankar, K.;
- Hasan, A.Q.;
- Nair, M.;
- Nampoothiri, S.
Publication type:
Article
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.
Published in:
Clinical Genetics, 2014, v. 86, n. 4, p. 318, doi. 10.1111/cge.12352
By:
- Lohan, S.;
- Spielmann, M.;
- Doelken, S.C.;
- Flöttmann, R.;
- Muhammad, F.;
- Baig, S.M.;
- Wajid, M.;
- Hülsemann, W.;
- Habenicht, R.;
- Kjaer, K.W.;
- Patil, S.J.;
- Girisha, K.M.;
- Abarca‐Barriga, H.H.;
- Mundlos, S.;
- Klopocki, E.
Publication type:
Article
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2820, doi. 10.1002/ajmg.a.35620
By:
- Dalal, Ashwin;
- Bhavani G, Sri Lakshmi;
- Togarrati, Padma Priya;
- Bierhals, Tatjana;
- Nandineni, Madhusudan R.;
- Danda, Sumita;
- Danda, Debashish;
- Shah, Hitesh;
- Vijayan, Sandeep;
- Gowrishankar, Kalpana;
- Phadke, Shubha R;
- Bidchol, Abdul Mueed;
- Rao, Anand Prahalad;
- Nampoothiri, Sheela;
- Kutsche, Kerstin;
- Girisha, K.M.
Publication type:
Article
Report of second case and clinical and molecular characterization of Eiken syndrome.
Published in:
2018
By:
- Moirangthem, A.;
- Narayanan, D.L.;
- Jacob, P.;
- Nishimura, G.;
- Mortier, G.;
- Girisha, K.M.
Publication type:
Case Study
Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2022, v. 36, n. 9, p. 1606, doi. 10.1111/jdv.18207
By:
- Vona, B.;
- Schwartzbaum, D.A.;
- Rodriguez, A.A.;
- Lewis, S.S.;
- Toosi, M.B.;
- Radhakrishnan, P.;
- Bozan, N.;
- Akın, R.;
- Doosti, M.;
- Manju, R.;
- Duman, D.;
- Sineni, C.J.;
- Nampoothiri, S.;
- Karimiani, E.G.;
- Houlden, H.;
- Bademci, G.;
- Tekin, M.;
- Girisha, K.M.;
- Maroofian, R.;
- Douzgou, S.
Publication type:
Article
The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2017, v. 31, n. 1, p. e17, doi. 10.1111/jdv.13587
By:
- Chaudhary, A.K.;
- Mohapatra, R.;
- Nagarajaram, H.A.;
- Ranganath, P.;
- Dalal, A.;
- Dutta, A.;
- Danda, S.;
- Girisha, K.M.;
- Bashyam, M.D.
Publication type:
Article
Whole exome sequencing identifies a novel pathogenic variation [p.(Gly194valfs*7)] in SLC45A2 in the homozygous state in multiple members of a family with oculocutaneous albinism in southern India.
Published in:
Clinical & Experimental Dermatology, 2020, v. 45, n. 4, p. 409, doi. 10.1111/ced.14126
By:
- Lewis, S.S.;
- Girisha, K.M.
Publication type:
Article

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