1. A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation. (7th August 2022) Authors: Alsaleh, Norah; Alhashem, Amal; Tabarki, Brahim; Mohamed, Sarar; Alharby, Essa; Alkuraya, Fowzan S.; Almontashiri, Naif A.M. Journal: Neurology Issue: Volume 8:Number 4(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia. Issue 5 (21st February 2019) Authors: Yüksel, Zafer; Vogel, Florian; Alhashem, Amal M.; Alanzi, Talal S.A.; Tabarki, Brahim; Kampe, Kapil; Kandaswamy, Krishna K.; Werber, Martin; Bertoli‐Avella, Aida M.; Beetz, Christian; Rolfs, Arndt; Bauer, Peter Journal: Clinical genetics Issue: Volume 95:Issue 5(2019) Page Start: 631 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Wide Clinical Phenotype Spectrum in Patients With ATP1A2 Mutations. (February 2014) Authors: Al-Bulushi, Bashaer; Al-Hashem, Amal; Tabarki, Brahim Journal: Journal of child neurology Issue: Volume 29:Number 2(2014:Feb.) Page Start: 265 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Characterizing the morbid genome of ciliopathies. Issue 1 (December 2016) Authors: Shaheen, Ranad; Szymanska, Katarzyna; Basu, Basudha; Patel, Nisha; Ewida, Nour; Faqeih, Eissa; Al Hashem, Amal; Derar, Nada; Alsharif, Hadeel; Aldahmesh, Mohammed; Alazami, Anas; Hashem, Mais; Ibrahim, Niema; Abdulwahab, Firdous; Sonbul, Rawda; Alkuraya, Hisham; Alnemer, Maha; Al Tala, Saeed; Al-... Journal: Genome biology Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Congenital disorders of glycosylation: The Saudi experience. Issue 10 (25th July 2017) Authors: Alsubhi, Sarah; Alhashem, Amal; Faqeih, Eissa; Alfadhel, Majid; Alfaifi, Abdullah; Altuwaijri, Waleed; Alsahli, Saud; Aldhalaan, Hesham; Alkuraya, Fowzan S.; Hundallah, Khalid; Mahmoud, Adel; Alasmari, Ali; Mutairi, Fuad Al; Abduraouf, Hanem; AlRasheed, Layan; Alshahwan, Saad; Tabarki, Brahim Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: 2614 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Distinct neuroimaging features of DDHD2 gene-related spastic paraplegia, a mimicker of cerebral palsy. Issue 5 (31st January 2019) Authors: Thabet, Farah; Tlili-Graiess, Kalthoum; Tabarki, Brahim Journal: Archives of disease in childhood Issue: Volume 105:Issue 5(2020) Page Start: 482 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Epileptic Encephalopathies in Children. (19th August 2013) Authors: Tabarki, Brahim; Coppola, Giangennaro; Wirrell, Elaine Journal: Epilepsy research and treatment Issue: Volume 2013(2013) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. First description of the MEGDEHL syndrome in the Tunisian population via whole‐exome sequencing: Novel nonsense mutation in SERAC1 gene. Issue 8 (22nd August 2022) Authors: Felhi, Rahma; Monastiri, Kamel; Ben Hamida, Hayet; Ammar, Marwa; Chioukh, Fatma Zohra; Tabarki, Brahim; Chouchen, Jihene; Fakhfakh, Faiza; Tlili, Abdelaziz; Mkaouar‐Rebai, Emna Journal: International journal of developmental neuroscience Issue: Volume 82:Issue 8(2022) Page Start: 735 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases. (13th March 2020) Authors: Borlot, Felippe; Abushama, Ahmed; Morrison‐Levy, Nadine; Jain, Puneet; Puthenveettil Vinayan, Kollencheri; Abukhalid, Musaad; Aldhalaan, Hesham M.; Almuzaini, Hanin S.; Gulati, Sheffali; Hershkovitz, Tova; Konanki, Ramesh; Lingappa, Lokesh; Luat, Aimee F.; Shafi, Shatha; Tabarki, Brahim; Thomas, ... Journal: Epilepsia Issue: Volume 61:issue 4(2020) Page Start: 679 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. Issue 1 (December 2015) Authors: Sanders, Anna; de Vrieze, Erik; Alazami, Anas; Alzahrani, Fatema; Malarkey, Erik; Sorusch, Nasrin; Tebbe, Lars; Kuhns, Stefanie; van Dam, Teunis; Alhashem, Amal; Tabarki, Brahim; Lu, Qianhao; Lambacher, Nils; Kennedy, Julie; Bowie, Rachel; Hetterschijt, Lisette; van Beersum, Sylvia; van Reeuwijk,... Journal: Genome biology Issue: Volume 16:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗