1. An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction. (1st April 2018) Authors: Humbatova, A.; Maroofian, R.; Romano, M.‐T.; Tafazzoli, A.; Behnam, M.; Dilaver, N.; Nouri, N.; Salehi, M.; Wolf, S.; Frank, J.; Kokordelis, P.; Betz, R.C. Journal: British journal of dermatology Issue: Volume 178:Number 4(2018) Page Start: e265 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction. (23rd February 2018) Authors: Humbatova, A.; Maroofian, R.; Romano, M.‐T.; Tafazzoli, A.; Behnam, M.; Dilaver, N.; Nouri, N.; Salehi, M.; Wolf, S.; Frank, J.; Kokordelis, P.; Betz, R.C. Journal: British journal of dermatology Issue: Volume 178:Number 4(2018) Page Start: e265 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination. (17th October 2019) Authors: Chelban, V.; Alsagob, M.; Kloth, K.; Chirita‐Emandi, A.; Vandrovcova, J.; Maroofian, R.; Davagnanam, I.; Bakhtiari, S.; AlSayed, M. D.; Rahbeeni, Z.; AlZaidan, H.; Malintan, N. T.; Johannsen, J.; Efthymiou, S.; Ghayoor Karimiani, E.; Mankad, K.; Al‐Shahrani, S. A.; Beiraghi Toosi, M.; AlShammari,... Journal: European journal of neurology Issue: Volume 27:Number 2(2020) Page Start: 334 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗