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PP01.1 – 2565: Next generation sequencing analysis in neonatal/early epileptic encephalopathy

European journal of paediatric neurology, 2015-05, Vol.19, p.S29-S29

2015

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PP01.12 – 2602: Differential diagnosis of progressive myoclonic epilepsia: Five patients with Lafora disease

European journal of paediatric neurology, 2015-05, Vol.19, p.S32-S32

2015

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PP12.11 – 2550: Atypical forms of 4H leukodystrophy

European journal of paediatric neurology, 2015-05, Vol.19, p.S80-S80

2015

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Evidence that the wider social environment moderates the association between familial liability and psychosis spectrum outcome

Psychological medicine, 2012-12, Vol.42 (12), p.2499-2510

2012

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In vitro gene manipulation of spinal muscular atrophy fibroblast cell line using gene-targeting fragment for restoration of SMN protein expression

Gene therapy, 2016-01, Vol.23 (1), p.10-17

2016

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Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

Scientific reports, 2016-08, Vol.6 (1), p.31622-31622, Article 31622

2016

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Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families

Journal of endocrinological investigation, 2021-06, Vol.44 (6), p.1301-1307

2021

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Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100732-100732, Article 100732

2021

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Low levels of mannose-binding lectin confers protection against tuberculosis in Turkish children

European journal of clinical microbiology & infectious diseases, 2008-12, Vol.27 (12), p.1165-1169

2008

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No relationship between lipoprotein-associated phospholipase A2, proinflammatory cytokines, and neopterin in Alzheimer's disease

Experimental gerontology, 2016-05, Vol.77, p.1-6

2016

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Successful treatment of hepatic and mesh Aspergillosis in a neonate with giant omphalocele

Journal de mycologie médicale, 2022-05, Vol.32 (2), p.101245, Article 101245

2022

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Subthreshold depression as a predictor of emergence and persistence of psychotic experiences: A six-year longitudinal population-based cohort

European psychiatry, 2016-03, Vol.33, p.S264-S264

2016

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Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann–Pick disease patients: Mutation profile and description of a novel mutation

Gene, 2013-09, Vol.526 (2), p.484-486

2013

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Assessment of Toll-like receptor-4 gene polymorphism on pyelonephritis and renal scar

International journal of immunogenetics, 2012-08, Vol.39 (4), p.303-307

2012

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A six-year longitudinal population-based cohort for the extended psychosis phenotype: An epidemiological study of the gene-environment interactions (TürkSch)

European psychiatry, 2016-03, Vol.33 (S1), p.S237-S237

2016

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Psychotic experiences, alcohol–cannabis abuse, stressful events and familial risk is associated with onset of clinical psychosis: Evidence from a 6-year longitudinal population-based cohort

European psychiatry, 2016-03, Vol.33 (S1), p.S216-S217

2016

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558 Prader-Willi Syndrome Due to Maternal Uniparental Disomy following Assisted Reproductive Technology

Archives of disease in childhood, 2012-10, Vol.97 (Suppl 2), p.A162-A162

2012

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Lack of association between catalase gene polymorphism (T/C exon 9) and susceptibility to vitiligo in a Turkish population

Genetics and molecular research, 2011-10, Vol.10 (4), p.4126-4132

2011

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Lupus anticoagulant and protein S deficiency in otherwise healthy children with acute varicella infection

Acta Paediatrica, 2000-10, Vol.89 (10), p.1186-1189

2000

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Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: Report and review

Journal of assisted reproduction and genetics, 2009-03, Vol.26 (2-3), p.119-122

2009

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Effect of CYP2C9 and VKORC1 Gene Variants in Determining the Maintenance of Warfarin Dose and Complications in Patients With Left Ventricular Assist Device

The Journal of heart and lung transplantation, 2014-04, Vol.33 (4), p.S260-S261

2014

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Testing the psychosis continuum: differential impact of genetic and nongenetic risk factors and comorbid psychopathology across the entire spectrum of psychosis

Schizophrenia bulletin, 2012-09, Vol.38 (5), p.992-1002

2012

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P-61 Analysis of couples having genetic counseling for preimplantation genetic diagnosis or preimplantation genetic screening

Reproductive biomedicine online, 2013-05, Vol.26, p.S50-S50

2013

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P-18 Evaluation of preimplantation genetic aneuploidy screening cases at a reference genetics center in Izmir, Turkey

Reproductive biomedicine online, 2013-05, Vol.26, p.S34-S34

2013

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P-53 Outcome of preimplantation genetic diagnosis of balanced translocation carriers

Reproductive biomedicine online, 2013-05, Vol.26, p.S47-S47

2013

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PP01.1 – 2565: Next generation sequencing analysis in neonatal/early epileptic encephalopathy

PP01.12 – 2602: Differential diagnosis of progressive myoclonic epilepsia: Five patients with Lafora disease

PP12.11 – 2550: Atypical forms of 4H leukodystrophy

Evidence that the wider social environment moderates the association between familial liability and psychosis spectrum outcome

In vitro gene manipulation of spinal muscular atrophy fibroblast cell line using gene-targeting fragment for restoration of SMN protein expression

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families

Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations

Low levels of mannose-binding lectin confers protection against tuberculosis in Turkish children

No relationship between lipoprotein-associated phospholipase A2, proinflammatory cytokines, and neopterin in Alzheimer's disease

Successful treatment of hepatic and mesh Aspergillosis in a neonate with giant omphalocele

Subthreshold depression as a predictor of emergence and persistence of psychotic experiences: A six-year longitudinal population-based cohort

Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann–Pick disease patients: Mutation profile and description of a novel mutation

Assessment of Toll-like receptor-4 gene polymorphism on pyelonephritis and renal scar

A six-year longitudinal population-based cohort for the extended psychosis phenotype: An epidemiological study of the gene-environment interactions (TürkSch)

Psychotic experiences, alcohol–cannabis abuse, stressful events and familial risk is associated with onset of clinical psychosis: Evidence from a 6-year longitudinal population-based cohort

558 Prader-Willi Syndrome Due to Maternal Uniparental Disomy following Assisted Reproductive Technology

Lack of association between catalase gene polymorphism (T/C exon 9) and susceptibility to vitiligo in a Turkish population

Lupus anticoagulant and protein S deficiency in otherwise healthy children with acute varicella infection

Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: Report and review

Effect of CYP2C9 and VKORC1 Gene Variants in Determining the Maintenance of Warfarin Dose and Complications in Patients With Left Ventricular Assist Device

Testing the psychosis continuum: differential impact of genetic and nongenetic risk factors and comorbid psychopathology across the entire spectrum of psychosis

P-61 Analysis of couples having genetic counseling for preimplantation genetic diagnosis or preimplantation genetic screening

P-18 Evaluation of preimplantation genetic aneuploidy screening cases at a reference genetics center in Izmir, Turkey

P-53 Outcome of preimplantation genetic diagnosis of balanced translocation carriers

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