Search details
1.
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.
Cell
; 167(6): 1481-1494.e18, 2016 Dec 01.
Article
in English
| MEDLINE | ID: mdl-27912058
2.
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
Am J Hum Genet
; 104(4): 731-737, 2019 04 04.
Article
in English
| MEDLINE | ID: mdl-30905400
3.
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Brain
; 136(Pt 12): 3634-44, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-24176978
4.
Cerebral sinovenous thrombosis associated with MTHFR A1298C mutation in the newborn: a case report.
J Thromb Thrombolysis
; 35(2): 279-81, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-22797907
5.
TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature.
Mol Syndromol
; 14(6): 485-492, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-38058760
6.
Effects of treatment with clinically relevant valproate, carbamazepine, oxcarbazepine, topiramate, lamotrigine and levetiracetam on ovarian folliculogenesis in young rats.
Epilepsy Res
; 184: 106966, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35763982
7.
SLC35A2-CDG: novel variants with two ends of the spectrum.
J Pediatr Endocrinol Metab
; 34(9): 1185-1189, 2021 Sep 27.
Article
in English
| MEDLINE | ID: mdl-34161696
8.
Coexistence of guanidinoacetate methyltransferase (GAMT) deficiency and neuroleptic malignant syndrome without creatine kinase elevation.
Brain Dev
; 42(5): 418-420, 2020 May.
Article
in English
| MEDLINE | ID: mdl-32173091
9.
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.
Nat Commun
; 11(1): 6087, 2020 11 30.
Article
in English
| MEDLINE | ID: mdl-33257696
10.
A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism.
Turk J Pediatr
; 61(1): 92-96, 2019.
Article
in English
| MEDLINE | ID: mdl-31559727
11.
Recurrence of ARID1B -related Coffin-Siris Syndrome by possible gonadal mosaicism.
Clin Dysmorphol
; 32(4): 180-183, 2023 10 01.
Article
in English
| MEDLINE | ID: mdl-37646735
12.
Atypical presentations of SSPE: a clinical study in four cases.
Turk J Pediatr
; 49(3): 295-300, 2007.
Article
in English
| MEDLINE | ID: mdl-17990584
13.
Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy.
Intractable Rare Dis Res
; 6(1): 61-64, 2017 Feb.
Article
in English
| MEDLINE | ID: mdl-28357185
14.
Severe form of Cockayne syndrome with varying clinical presentation and no photosensitivity in a family.
J Child Neurol
; 21(4): 333-7, 2006 Apr.
Article
in English
| MEDLINE | ID: mdl-16900932
15.
Effect of antiepileptic drugs on plasma lipids, lipoprotein (a), and liver enzymes.
J Child Neurol
; 21(1): 70-4, 2006 Jan.
Article
in English
| MEDLINE | ID: mdl-16551457
16.
Chromosomal abnormalities in 457 Turkish patients with MCA/MR.
Turk J Pediatr
; 48(2): 130-4, 2006.
Article
in English
| MEDLINE | ID: mdl-16848112
17.
Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene.
Intractable Rare Dis Res
; 5(3): 222-6, 2016 Aug.
Article
in English
| MEDLINE | ID: mdl-27672547
18.
Vitamin D Deficiency in Children With Newly Diagnosed Idiopathic Epilepsy.
J Child Neurol
; 30(11): 1428-32, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-25637647
19.
Retrospective evaluation of interferon-beta treatment in subacute sclerosing panencephalitis.
Clin Ther
; 26(11): 1890-4, 2004 Nov.
Article
in English
| MEDLINE | ID: mdl-15639700
20.
Brainstem encephalitis and acute disseminated encephalomyelitis following mumps.
Pediatr Neurol
; 30(2): 132-4, 2004 Feb.
Article
in English
| MEDLINE | ID: mdl-14984908