Sager S - Search Results

1

Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis.

Eser M, Hekimoglu G, Kutlubay B, Sager SG, Turkyilmaz A. Eser M, et al. Among authors: sager sg. Mol Genet Genomics. 2024 Dec 26;300(1):6. doi: 10.1007/s00438-024-02210-w. Mol Genet Genomics. 2024. PMID: 39722056

2

Homozygous ASTN1 Nonsense Variant Linked to Epileptic Encephalopathy: A Detailed Report With Unique Clinical Presentation.

Ayaz A, Sager SG, Gökşen AS, Kök K, Caliskan E, Alomari O. Ayaz A, et al. Among authors: sager sg. Clin Genet. 2024 Dec 12. doi: 10.1111/cge.14674. Online ahead of print. Clin Genet. 2024. PMID: 39667727

3

Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.

Turkyilmaz A, Sager SG, Terali K, Kart PO, Kamasak T, Ayaz A, Cebi AH, Cansu A. Turkyilmaz A, et al. Among authors: sager sg. Clin Genet. 2024 Dec 11. doi: 10.1111/cge.14669. Online ahead of print. Clin Genet. 2024. PMID: 39659179

4

A Novel NDUFV2 Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy.

Caliskan E, Sager SG, Ayaz A, Teralı K, Gunbey HP. Caliskan E, et al. Among authors: sager sg. Mol Syndromol. 2024 Dec;15(6):481-486. doi: 10.1159/000538900. Epub 2024 May 20. Mol Syndromol. 2024. PMID: 39634239 Free article.

5

Novel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathy.

Alomarı O, Bebek O, Turkyilmaz A, Sager SG. Alomarı O, et al. Among authors: sager sg. Seizure. 2025 Jan;124:35-38. doi: 10.1016/j.seizure.2024.11.009. Epub 2024 Nov 17. Seizure. 2025. PMID: 39612909

6

Ultra-wide-angle peripheral refraction using a laser-scanning instrument.

Sager S, Vicente-Jaen A, Lin Z, Prieto PM, Yang Z, Lan W, Artal P. Sager S, et al. Biomed Opt Express. 2024 Oct 24;15(11):6486-6498. doi: 10.1364/BOE.540051. eCollection 2024 Nov 1. Biomed Opt Express. 2024. PMID: 39553882 Free PMC article.

7

An alternative approach for compliance testing of food and skin contact silicone elastomers by specific determination of volatile cyclic siloxane oligomers via GC-FID.

Eckardt M, Seidel AK, Säger S, Simat TJ. Eckardt M, et al. Among authors: sager s. Talanta. 2025 Feb 1;283:127145. doi: 10.1016/j.talanta.2024.127145. Epub 2024 Nov 1. Talanta. 2025. PMID: 39522283

8

A case of ocular flutter associated with sole anti-sulphatide antibody positivity: successful treatment with intravenous immunoglobulin in a pediatric patient.

Akcay M, Sager SG, Kaplan AT, Alomari O, Akin Y. Akcay M, et al. Among authors: sager sg. Acta Neurol Belg. 2024 Dec;124(6):2063-2065. doi: 10.1007/s13760-024-02645-3. Epub 2024 Sep 28. Acta Neurol Belg. 2024. PMID: 39342054

9

The Effect of Levetiracetam and Valproic Acid Treatment on Anger and Attention Deficit Hyperactivity Disorder Clinical Features in Children and Adolescents with Epilepsy: A Prospective Study.

Vatansever Pınar Z, Sağer SG, Çimen İD, Çağ Y. Vatansever Pınar Z, et al. Among authors: sager sg. Paediatr Drugs. 2024 Nov;26(6):753-765. doi: 10.1007/s40272-024-00652-8. Epub 2024 Sep 27. Paediatr Drugs. 2024. PMID: 39331340

10

Comprehensive exploration of FCHO1 mutations: Clinical manifestations and implications across disorders.

Alomari O, Ertan SN, Mokresh ME, Yazicilar E, Pourali M, Akyokus FE, Sager SG, Cag Y. Alomari O, et al. Among authors: sager sg. Am J Med Genet A. 2025 Jan;197(1):e63855. doi: 10.1002/ajmg.a.63855. Epub 2024 Aug 21. Am J Med Genet A. 2025. PMID: 39166479 Review.

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