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Author/Creator Girisha, K.M.

1. Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss. (25th May 2022)

Authors:
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.
Journal:
Journal of the European Academy of Dermatology and Venereology
Issue:
Volume 36:Number 9(2022)
Page Start:
1606
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II. Issue 6 (26th May 2016)

Authors:
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.
Journal:
Clinical genetics
Issue:
Volume 90:Issue 6(2016)
Page Start:
496
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome. (17th February 2014)

Authors:
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.
Journal:
Clinical genetics
Issue:
Volume 86:Number 4(2014:Oct.)
Page Start:
318
Record Type:
Journal Article
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7. The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. (11th May 2016)

Authors:
Chaudhary, A.K.; Mohapatra, R.; Nagarajaram, H.A.; Ranganath, P.; Dalal, A.; Dutta, A.; Danda, S.; Girisha, K.M.; Bashyam, M.D.
Journal:
Journal of the European Academy of Dermatology and Venereology
Issue:
Volume 31:Number 1(2017:Jan.)
Page Start:
e17
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗