1. A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia. Issue 6 (15th September 2017) Authors: Alharby, E.; Albalawi, A.M.; Nasir, A.; Alhijji, S.A.; Mahmood, A.; Ramzan, K.; Abdusamad, F.; Aljohani, A.; Abdelsalam, O.; Eldardear, A.; Basit, S. Journal: Clinical genetics Issue: Volume 92:Issue 6(2017) Page Start: 579 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Marshall syndrome: Further evidence of a distinct phenotypic entity and report of new findings. Issue 10 (29th July 2014) Authors: Khalifa, O.; Imtiaz, F.; Ramzan, K.; Allam, R.; Hemidan, A. Al‐; Faqeih, E.; Abuharb, G.; Balobaid, A.; Sakati, N.; Owain, M. Al‐ Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2601 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Marshall syndrome: Further evidence of a distinct phenotypic entity and report of new findings. Issue 10 (29th July 2014) Authors: Khalifa, O.; Imtiaz, F.; Ramzan, K.; Allam, R.; Hemidan, A. Al‐; Faqeih, E.; Abuharb, G.; Balobaid, A.; Sakati, N.; Owain, M. Al‐ Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2601 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families. (23rd May 2018) Authors: Ahmad, F.; Shah, K.; Umair, M.; Jan, A.; Irfanullah, ; Khan, S.; Muhammad, D.; Basit, S.; Wakil, S. M.; Ramzan, K.; Ahmad, W. Journal: Clinical and experimental dermatology Issue: Volume 43:Number 6(2018) Page Start: 752 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families. (1st August 2018) Authors: Ahmad, F.; Shah, K.; Umair, M.; Jan, A.; Irfanullah, ; Khan, S.; Muhammad, D.; Basit, S.; Wakil, S. M.; Ramzan, K.; Ahmad, W. Journal: Clinical and experimental dermatology Issue: Volume 43:Number 6(2018) Page Start: 752 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia. (27th November 2013) Authors: Wakil, S.M.; Monies, D.M.; Ramzan, K.; Hagos, S.; Bastaki, L.; Meyer, B.F.; Bohlega, S. Journal: Clinical genetics Issue: Volume 86:Number 5(2014:Nov.) Page Start: 500 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Woodhouse–Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene. (1st March 2020) Authors: Shah, K.; Jan, A.; Ahmad, F.; Basit, S.; Ramzan, K.; Ahmad, W. Journal: Clinical and experimental dermatology Issue: Volume 45:Number 2(2020) Page Start: 159 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Woodhouse–Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene. (28th August 2019) Authors: Shah, K.; Jan, A.; Ahmad, F.; Basit, S.; Ramzan, K.; Ahmad, W. Journal: Clinical and experimental dermatology Issue: Volume 45:Number 2(2020) Page Start: 159 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗