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The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies.
- Published in:
- Neurological Sciences, 2020, v. 41, n. 12, p. 3729, doi. 10.1007/s10072-020-04619-8
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- Publication type:
- Article
WWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlation.
- Published in:
- Neurological Sciences, 2018, v. 39, n. 11, p. 1977, doi. 10.1007/s10072-018-3528-6
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- Publication type:
- Article
Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies.
- Published in:
- 2017
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- Publication type:
- Case Study
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 6, p. 504, doi. 10.1159/000531408
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- Publication type:
- Article
Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome.
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- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 296, doi. 10.1159/000511609
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- Publication type:
- Article
A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 1, p. 52, doi. 10.4274/jcrpe.galenos.2020.2020.0101
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- Publication type:
- Article
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 1, p. 113, doi. 10.4274/jcrpe.galenos.2019.2019.0023
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- Publication type:
- Article
The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1814, doi. 10.1002/ajmg.a.63207
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- Publication type:
- Article
A rare cause of syndromic short stature: 3M syndrome in three families.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 461, doi. 10.1002/ajmg.a.61989
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- Publication type:
- Article
A further family of Stromme syndrome carrying CENPF mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1668, doi. 10.1002/ajmg.a.38173
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- Publication type:
- Article
Grand challenges in bioinformatics education and training.
- Published in:
- Nature Biotechnology, 2023, v. 41, n. 8, p. 1171, doi. 10.1038/s41587-023-01891-9
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- Publication type:
- Article
Covid-19 Pandemisinde Artan Şiddet Olaylarında Gözardı Edilen Mağdur Çocuklar.
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- Journal of Society & Social Work, 2022, v. 33, n. 1, p. 317, doi. 10.33417/tsh.957361
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- Publication type:
- Article
LGS ve YKS Sınav Döneminde Olan Öğrencilerde Covid-19 Pandemisinin ve Kısıtlamalarının Sınav Stresine Etkisi.
- Published in:
- Turkish Studies - Educational Sciences, 2022, v. 17, n. 4, p. 699, doi. 10.7827/TurkishStudies.62655
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- Publication type:
- Article
Analyzing Self-Efficacy Perception of University Students.
- Published in:
- Cukurova University Faculty of Education Journal / Çukurova Üniversitesi Eğitim Fakültesi Dergisi, 2020, v. 49, n. 1, p. 163, doi. 10.14812/cufej.628505
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- Publication type:
- Article
ERKEN ÇOCUKLUKTA GÖRÜLEN DAVRANIŞ PROBLEMLERİNİN ÇEŞİTLİ DEĞİŞKENLER AÇISINDAN İNCELENMESİ.
- Published in:
- Social Sciences Review of the Faculty of Sciences & Letters University of Uludag / Fen Edebiyat Fakültesi Sosyal Bilimler Dergisi, 2021, v. 22, n. 40, p. 183, doi. 10.21550/sosbilder.854768
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- Publication type:
- Article
Early and mid-term outcomes after surgical repair of congenital supravalvular aortic stenosis with the Doty technique.
- Published in:
- Archives of the Turkish Society of Cardiology / Türk Kardiyoloji Derneği Arşivi, 2018, v. 46, n. 5, p. 385, doi. 10.5543/tkda.2018.65960
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- Publication type:
- Article
Identification of the molecular etiology in rare congenital hemolytic anemias using next‐generation sequencing with exome‐based copy number variant analysis.
- Published in:
- European Journal of Haematology, 2024, v. 113, n. 1, p. 82, doi. 10.1111/ejh.14194
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- Publication type:
- Article
Type 2B Von Willebrand Disease Mimicking Autoimmune Thrombocytopenia in the Neonatal Period.
- Published in:
- Erciyes Medical Journal / Erciyes Tip Dergisi, 2021, v. 43, n. 2, p. 201, doi. 10.14744/etd.2020.81557
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- Publication type:
- Article
Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations.
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- Erciyes Medical Journal / Erciyes Tip Dergisi, 2021, v. 43, n. 1, p. 54, doi. 10.14744/etd.2020.49765
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- Publication type:
- Article
ABCC8-related maturity-onset diabetes of the young: switching from insulin to sulphonylurea therapy: how long do we need for a good metabolic control?
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 6, p. 592, doi. 10.1515/jpem-2022-0642
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- Publication type:
- Article
The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 7, p. 957, doi. 10.1515/jpem-2021-0018
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- Publication type:
- Article
The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 4, p. 417, doi. 10.1515/jpem-2020-0410
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- Publication type:
- Article
Atipik Teratoid Rabdoid Tümörlü Olgularda Demografik, Klinik, Patolojik Özelliklerin ve HSNF5 (SMARCB1)/INI1 Gen Mutasyonlarının Araştırılması.
- Published in:
- Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi, 2020, v. 29, n. 3, p. 139, doi. 10.5336/pediatr.2019-72772
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- Publication type:
- Article
Fibrodisplazi Ossifikans Progresiva: Klinik ve Moleküler Bulgularıyla Klasik Bir Olgu.
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- Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi, 2015, v. 24, n. 4, p. 164, doi. 10.5336/pediatr.2015-46663
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- Publication type:
- Article
COVID-19 SÜRECİNDE BABALARIN EBEVEYNLİK DÜZEYLERİNDEKİ DEĞİŞİMİN İNCELENMESİ.
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- Firat University Journal of Social Sciences / Firat Üniversitesi Sosyal Bilimler Dergisi, 2023, v. 33, n. 1, p. 289, doi. 10.18069/firatsbed.1192329
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- Publication type:
- Article
Determinants of Mental Disorders in Syrian Refugees in Turkey Versus Internally Displaced Persons in Syria.
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- American Journal of Public Health, 2018, v. 108, n. 7, p. 938, doi. 10.2105/AJPH.2018.304405
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- Publication type:
- Article
Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations.
- Published in:
- Annals of Clinical Biochemistry, 2021, v. 58, n. 4, p. 335, doi. 10.1177/00045632211000102
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- Publication type:
- Article
Farklı mutasyonlar taşıyan Apert sendromlu iki olgu: erken tanının önemi.
- Published in:
- Türk Pediatri Arşivi, 2017, v. 52, n. 4, p. 231, doi. 10.5152/TurkPediatriArs.2016.3305
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- Publication type:
- Article
A global initiative on addressing bioinformatics' grand challenges.
- Published in:
- Briefings in Bioinformatics, 2024, v. 25, n. 4, p. 1, doi. 10.1093/bib/bbae278
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- Publication type:
- Article
Clinical and molecular aspects of PTEN mutations in 10 pediatric patients.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 4, p. 324, doi. 10.1111/ahg.12380
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- Publication type:
- Article
Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02015-1
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- Publication type:
- Article
Orthogonal signal correction-based prediction of total antioxidant activity using partial least squares regression from chromatograms.
- Published in:
- Journal of Chemometrics, 2012, v. 26, n. 7, p. 390, doi. 10.1002/cem.2450
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- Publication type:
- Article
TÜRK YÜKSEKÖĞRETİMİNDE SOSYOLOJİ EĞİTİMİNİN SON DURUMUNA İLİŞKİN BİR DEĞERLENDİRME.
- Published in:
- Dokuz Eylül University Journal of Humanities / Dokuz Eylül Üniversitesi Edebiyat Fakültesi Dergisi, 2023, v. 10, n. 2, p. 740
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- Publication type:
- Article
GENEL SİSTEM TEORİSİNDEN AİLE SİSTEMLERİ TEORİSİNE: AİLE ÇALIŞMALARINDA SİSTEM KURAMI.
- Published in:
- Dokuz Eylül University Journal of Humanities / Dokuz Eylül Üniversitesi Edebiyat Fakültesi Dergisi, 2023, v. 10, n. 2, p. 701
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- Publication type:
- Article
Effect of CTLA-4 and TNF-α Gene Polymorphisms on Inhibitor Development in a Turkish Cohort of Severe Hemophilia A Cases with Intron 22 Inversion Mutation: An Analytical Study.
- Published in:
- Turkiye Klinikleri Journal of Medical Sciences, 2022, v. 42, n. 3, p. 159, doi. 10.5336/medsci.2021-86664
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- Publication type:
- Article
Hemofili B Moleküler Analizinde Türkiye Deneyimi: F9 Gen Mutasyon Spektrumu ve Genotip-Fenotip İlişkisi.
- Published in:
- Turkiye Klinikleri Journal of Medical Sciences, 2020, v. 40, n. 3, p. 334, doi. 10.5336/medsci.2020-75066
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- Publication type:
- Article
Identification of Genetic Alterations in Rapid Progressive Glioblastoma by Use of Whole Exome Sequencing.
- Published in:
- Diagnostics (2075-4418), 2023, v. 13, n. 6, p. 1017, doi. 10.3390/diagnostics13061017
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- Publication type:
- Article
CUMHURİYET'İN GÜRBÜZ ÇOCUKLARI.
- Published in:
- Dumlupinar University Journal of Social Science / Dumlupinar Üniversitesi Soysyal Bilimler Dergisi, 2023, n. 75, p. 1, doi. 10.51290/dpusbe.1002782
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- Publication type:
- Article
A Novel Molecular Indicator for Inhibitor Development in Haemophilia A.
- Published in:
- Journal of Pediatric Research, 2021, v. 8, n. 2, p. 102, doi. 10.4274/jpr.galenos.2020.59354
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- Publication type:
- Article
Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings.
- Published in:
- Journal of Pediatric Research, 2020, v. 7, n. 4, p. 267, doi. 10.4274/jpr.galenos.2019.38278
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- Publication type:
- Article
Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings.
- Published in:
- Journal of Pediatric Research, 2020, v. 7, n. 4, p. 267, doi. 10.4274/jpr.galenos.2019.38278
- By:
- Publication type:
- Article
Evaluation of social cognition, autistic traits, and dysmorphology in comorbid specific learning disorder and attention-deficit/hyperactivity disorder.
- Published in:
- Clinical Child Psychology & Psychiatry, 2022, v. 27, n. 4, p. 991, doi. 10.1177/13591045221095428
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- Publication type:
- Article
Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations.
- Published in:
- Turkish Journal of Hematology, 2020, v. 37, n. 3, p. 145, doi. 10.4274/tjh.galenos.2020.2019.0262
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- Publication type:
- Article
Intracranial Bleeding in a Female Hemophilia Patient: Molecular Analysis of the Factor 8 Gene and Determination of a Novel Mutation.
- Published in:
- Turkish Journal of Hematology, 2018, v. 35, n. 3, p. 202, doi. 10.4274/tjh.2017.0385
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- Publication type:
- Article
Immunodeficiency in a Child with Alström Syndrome.
- Published in:
- 2018
- By:
- Publication type:
- Case Study