Suchergebnisse - "Gezdirici, Alper"

PubPharm (119)

1

Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndrome

enthalten in: Molecular biology reports | 2024

von Dogan, M. | Teralı, K. | Eroz, R. | +3

2

Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndrome

enthalten in: Molecular biology reports | 2024

von Dogan, M. | Teralı, K. | Eroz, R. | +3

3

HMZDupFinder : a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

enthalten in: Nucleic acids research | 2024

von Du, H. | Dardas, Z. | Jolly, A. | +16

4

A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome

enthalten in: Molecular syndromology | 2024

von Yavas, C. | Ozgenturk, N. | Dogan, M. | +7

5

Extraretinal Fibrovascular Proliferation in a Neonate Possibly Associated with an ESAM Gene Variant

enthalten in: Turkish journal of ophthalmology | 2023

von Bayramoğlu, S. | Sayın, N. | Erdoğan, M. | +3

6

Investigation of (Epi)genetic causes in syndromic short children born small for gestational age

enthalten in: European journal of medical genetics | 2023

von Tüysüz, B. | Kasap, B. | Uludağ Alkaya, D. | +7

7

A novel homozygous frameshift CCNO variant presenting with primary ciliary dyskinesia and selective IgM deficiency

enthalten in: Pediatric pulmonology | 2023

von Celiksoy, M. | Turan, I. | Gezdirici, A. | +3

8

Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up : experience of a tertiary center in Turkey

enthalten in: Acta neurologica Belgica | 2023

von Yildiz, E. | Kilic, M. | Yalcin, E. | +6

9

Shared Biological Pathways and Processes in Patients with Intellectual Disability : A Multicenter Study

enthalten in: Neuropediatrics | 2023

von Günay, �. | Aykol, D. | Özsoy, �. | +72

10

Bialelic Pathogenic (c.830G>A(p.R277Q)) Variant Disrupting the GNE Gene Function and Causes Nonaka myopathy Phenotype

enthalten in: Cytology and genetics | 2023

von Doğan, M. | Akbulut, E. | Gezdirici, A. | +2

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