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Author/Creator Nampoothiri, S.

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. Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body. (12th August 2018)

Authors:
Harms, F.L.; Nampoothiri, S.; Kortüm, F.; Thomas, J.; Panicker, V.V.; Alawi, M.; Altmüller, J.; Yesodharan, D.; Kutsche, K.
Journal:
British journal of dermatology
Issue:
Volume 179:Number 5(2018)
Page Start:
1192
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body. (1st November 2018)

Authors:
Harms, F.L.; Nampoothiri, S.; Kortüm, F.; Thomas, J.; Panicker, V.V.; Alawi, M.; Altmüller, J.; Yesodharan, D.; Kutsche, K.
Journal:
British journal of dermatology
Issue:
Volume 179:Number 5(2018)
Page Start:
1192
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Refining the phenotypical and mutational spectrum of Taybi‐Linder syndrome. Issue 6 (2nd June 2016)

Authors:
Putoux, A.; Alqahtani, A.; Pinson, L.; Paulussen, A.D.C.; Michel, J.; Besson, A.; Mazoyer, S.; Borg, I.; Nampoothiri, S.; Vasiljevic, A.; Uwineza, A.; Boggio, D.; Champion, F.; de Die‐Smulders, C.E.; Gardeitchik, T.; van Putten, W.K.; Perez, M.J.; Musizzano, Y.; Razavi, F.; Drunat, S.
Journal:
Clinical genetics
Issue:
Volume 90:Issue 6(2016)
Page Start:
550
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗