1. A Drug Reaction With Eosinophilia and Systemic Symptoms Syndrome Associated With Clobazam. Issue 3 (March 2020) Authors: Manyas, Hayrullah; Paketci, Cem; Okur, Derya; Bayram, Erhan; Hiz, Semra; Yis, Uluc Journal: Pediatric emergency care Issue: Volume 36:Issue 3(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. Issue 8 (18th May 2019) Authors: Karakaya, Mert; Paketci, Cem; Altmueller, Janine; Thiele, Holger; Hoelker, Irmgard; Yis, Uluc; Wirth, Brunhilde Journal: American journal of medical genetics Issue: Volume 179:Issue 8(2019) Page Start: 1580 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and genetic characterization of PYROXD1‐related myopathy patients from Turkey. Issue 6 (10th March 2021) Authors: Daimagüler, Hülya‐Sevcan; Akpulat, Ugur; Özdemir, Özkan; Yis, Uluc; Güngör, Serdal; Talim, Beril; Diniz, Gülden; Baydan, Figen; Thiele, Holger; Altmüller, Janine; Nürnberg, Peter; Cirak, Sebahattin Journal: American journal of medical genetics Issue: Volume 185:Issue 6(2021) Page Start: 1678 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. Issue 4 (3rd March 2021) Authors: Keller, Natalie; Paketci, Cem; Altmueller, Janine; Fuhrmann, Nico; Wunderlich, Gilbert; Schrank, Bertold; Unver, Olcay; Yilmaz, Sanem; Boostani, Reza; Karimiani, Ehsan Ghayoor; Motameny, Susanne; Thiele, Holger; Nürnberg, Peter; Maroofian, Reza; Yis, Uluc; Wirth, Brunhilde; Karakaya, Mert Journal: Human mutation Issue: Volume 42:Issue 4(2021) Page Start: 460 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Importance of Diazepam Administration During Electroencephalography in the Differential Diagnosis of Cortical Visual Loss. (January 2014) Authors: Yis, Uluc; Topcu, Yasemin; Bayram, Erhan; Karakaya, Pakize; Cakmakci, Handan; Kurul, Semra Hız Journal: Journal of child neurology Issue: Volume 29:Number 1(2014:Jan.) Page Start: 114 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Incidental White Matter Lesions in Children Presentıng With Headache. Issue 6 (1st April 2013) Authors: Bayram, Erhan; Topcu, Yasemin; Karaoglu, Pakize; Yis, Uluc; Guleryuz, Handan Cakmakci; Kurul, Semra Hiz Journal: Headache Issue: Volume 53:Issue 6(2013) Page Start: 970 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?. Issue 1 (December 2016) Authors: Morimoto, Marie; Myung, Clara; Beirnes, Kimberly; Choi, Kunho; Asakura, Yumi; Bokenkamp, Arend; Bonneau, Dominique; Brugnara, Milena; Charrow, Joel; Colin, Estelle; Davis, Amira; Deschenes, Georges; Gentile, Mattia; Giordano, Mario; Gormley, Andrew; Govender, Rajeshree; Joseph, Mark; Keller, Kory... Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Life-Threatening and Rare Adverse Effects of Phenytoin. Issue 7 (July 2015) Authors: Polat, Ipek; Karaoglu, Pakize; Ayanoglu, Muge; Yis, Uluc; Hiz, Semra Journal: Pediatric emergency care Issue: Volume 31:Issue 7(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Life-Threatening and Rare Adverse Effects of Phenytoin. Issue 7 (July 2015) Authors: Polat, Ipek; Karaoglu, Pakize; Ayanoglu, Muge; Yis, Uluc; Hiz, Semra Journal: Pediatric emergency care Issue: Volume 31:Issue 7(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies. Issue 9 (25th July 2018) Authors: Karakaya, Mert; Storbeck, Markus; Strathmann, Eike A.; Delle Vedove, Andrea; Hölker, Irmgard; Altmueller, Janine; Naghiyeva, Leyla; Schmitz‐Steinkrüger, Lea; Vezyroglou, Katharina; Motameny, Susanne; Alawbathani, Salem; Thiele, Holger; Polat, Ayse Ipek; Okur, Derya; Boostani, Reza; Karimiani, Ehs... Journal: Human mutation Issue: Volume 39:Issue 9(2018) Page Start: 1284 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗