Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
Bachmann-Gagescu, R, Dempsey, J C, Phelps, I G, O'Roak, B J, Knutzen, D M, Rue, T C, Ishak, G E, Isabella, C R, Gorden, N, Adkins, J, Boyle, E A, de Lacy, N, O'Day, D, Alswaid, A, Ramadevi A, Radha, Lingappa, L, Lourenço, C, Martorell, L, Garcia-Cazorla, À, Ozyürek, H, Haliloğlu, G, Tuysuz, B, Topçu, M, Chance, P, Parisi, M A, Glass, I A, Shendure, J, Doherty, D
Published in Journal of medical genetics (01.08.2015)
Published in Journal of medical genetics (01.08.2015)
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Journal Article
M.P.1.15 Lambert eaton myasthenic syndrome in an adolescent with delayed onset of unilateral ptosis
Majumdar, A, Lingappa, L, O’Callaghan, F, Oware, A
Published in Neuromuscular disorders : NMD (01.10.2008)
Published in Neuromuscular disorders : NMD (01.10.2008)
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Journal Article
MDP014 Rapid onset dystonia parkinsons (RDP) phenotype, responsive to L-dopa
Shah, S, Lingappa, L, Jardine, P, O'Callaghan, F
Published in European journal of paediatric neurology (2007)
Published in European journal of paediatric neurology (2007)
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Journal Article
MDP08 Stiff leg syndrome: first paediatric case report
Lingappa, L, Oware, A, Shah, S, O'Callaghan, F
Published in European journal of paediatric neurology (2007)
Published in European journal of paediatric neurology (2007)
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Journal Article
Parent-Reported Visual Concerns in Children with Cerebral Visual Impairment Presenting to a Pediatric Neurology Clinic
Sumalini, Rebecca, Errolla, Premalatha, Lingappa, Lokesh, Conway, Miriam, Subramanian, Ahalya, Satgunam, PremNandhini
Published in Clinical optometry (Auckland) (01.01.2023)
Published in Clinical optometry (Auckland) (01.01.2023)
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Journal Article
GLRB is the third major gene of effect in hyperekplexia
Chung, S.-K., Bode, A., Cushion, T. D., Thomas, R. H., Hunt, C., Wood, S.-E., Pickrell, W. O., Drew, C. J. G., Yamashita, S., Shiang, R., Leiz, S., Longardt, A.-C., Raile, V., Weschke, B., Puri, R. D., Verma, I. C., Harvey, R. J., Ratnasinghe, D. D., Parker, M., Rittey, C., Masri, A., Lingappa, L., Howell, O. W., Vanbellinghen, J.-F., Mullins, J. G., Lynch, J. W., Rees, M. I.
Published in Human molecular genetics (15.06.2013)
Published in Human molecular genetics (15.06.2013)
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Journal Article
ACUTE ENCEPHALOPATHY WITH SEVERE BRAINSTEM INVOLVEMENT – IS IT ONE ENTITY
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Conference Proceeding