Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
8 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Neurology. 2024 Jan 23;102(2):e207945. doi: 10.1212/WNL.0000000000207945. Epub 2023 Dec 22.
Neurology. 2024.
PMID: 38165337
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.
Ahmad N, Fazeli W, Schließke S, Lesca G, Gokce-Samar Z, Mekbib KY, Jin SC, Burton J, Hoganson G, Petersen A, Gracie S, Granger L, Bartels E, Oppermann H, Kundishora A, Till M, Milleret-Pignot C, Dangerfield S, Viskochil D, Anderson KJ, Palculict TB, Schnur RE, Wentzensen IM, Tiller GE, Kahle KT, Kunz WS, Burkart S, Simons M, Sticht H, Abou Jamra R, Neuser S.
Ahmad N, et al. Among authors: gokce samar z.
Pediatr Neurol. 2023 Nov;148:164-171. doi: 10.1016/j.pediatrneurol.2023.08.023. Epub 2023 Aug 24.
Pediatr Neurol. 2023.
PMID: 37734130
Item in Clipboard
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F, Gras D, Luton MP, Nizou M, Giovannini D, Delattre C, Aubart M, Barth M, De Saint-Martin A, Doummar D, Essid N, Garros A, Le Camus CH, Hoebeke C, The Tich SN, Perivier M, Rivera S, Rolland A, Roubertie A, Sarret C, Sevin C, Ville D, Sitbon M, Costa JM, Pons R, Garcia-Cazorla A, Vuillaumier S, Petit V, Boespflug-Tanguy O, De Vivo DC; MetaGlut1 Study Group.
Mochel F, et al.
Neurology. 2023 Jun 6;100(23):e2360-e2373. doi: 10.1212/WNL.0000000000207296. Epub 2023 Apr 19.
Neurology. 2023.
PMID: 37076312
Free PMC article.
Item in Clipboard
STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes.
Gokce-Samar Z, de Bellescize J, Arzimanoglou A, Putoux A, Chatron N, Lesca G, Portes VD.
Gokce-Samar Z, et al.
Eur J Med Genet. 2022 Dec;65(12):104636. doi: 10.1016/j.ejmg.2022.104636. Epub 2022 Oct 7.
Eur J Med Genet. 2022.
PMID: 36216271
Review.
Item in Clipboard
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.
Absalom NL, Liao VWY, Johannesen KMH, Gardella E, Jacobs J, Lesca G, Gokce-Samar Z, Arzimanoglou A, Zeidler S, Striano P, Meyer P, Benkel-Herrenbrueck I, Mero IL, Rummel J, Chebib M, Møller RS, Ahring PK.
Absalom NL, et al. Among authors: gokce samar z.
Nat Commun. 2022 Apr 5;13(1):1822. doi: 10.1038/s41467-022-29280-x.
Nat Commun. 2022.
PMID: 35383156
Free PMC article.
Item in Clipboard
Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study.
Lamberink HJ, Otte WM, Blümcke I, Braun KPJ; European Epilepsy Brain Bank writing group; study group; European Reference Network EpiCARE.
Lamberink HJ, et al.
Lancet Neurol. 2020 Sep;19(9):748-757. doi: 10.1016/S1474-4422(20)30220-9.
Lancet Neurol. 2020.
PMID: 32822635
Item in Clipboard
Predictive factors and prognostic value for status epilepticus in newborns.
Gokce-Samar Z, Ostrowsky-Coste K, Gauthier-Morel D, Keo-Kosal P, De Regnauld De Bellescize J, Montavont A, Panagiotakaki E, Claris O, Arzimanoglou A.
Gokce-Samar Z, et al.
Eur J Paediatr Neurol. 2019 Mar;23(2):270-279. doi: 10.1016/j.ejpn.2019.01.006. Epub 2019 Jan 29.
Eur J Paediatr Neurol. 2019.
PMID: 30737142
Item in Clipboard
Pre-radiation chemotherapy improves survival in pediatric diffuse intrinsic pontine gliomas.
Gokce-Samar Z, Beuriat PA, Faure-Conter C, Carrie C, Chabaud S, Claude L, Di Rocco F, Mottolese C, Szathmari A, Chabert C, Frappaz D.
Gokce-Samar Z, et al.
Childs Nerv Syst. 2016 Aug;32(8):1415-23. doi: 10.1007/s00381-016-3153-8. Epub 2016 Jul 5.
Childs Nerv Syst. 2016.
PMID: 27379495
Item in Clipboard
Cite
Cite