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Further defining the molecular spectrum and long‐term follow‐up of 17 patients with Dyggve–Melchior–Clausen and Smith–McCort dysplasia type 2.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63785
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- Publication type:
- Article
A cohort analysis of familial partial lipodystrophy from two Mediterranean countries.
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- Diabetes, Obesity & Metabolism, 2024, v. 26, n. 11, p. 4875, doi. 10.1111/dom.15882
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- Publication type:
- Article
Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application.
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- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02015-1
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- Publication type:
- Article
Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment.
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- Hormone Research in Paediatrics, 2017, v. 87, n. 2, p. 81, doi. 10.1159/000452995
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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
Nadir bir seks kromozom bozukluğu: 48,XXYY sendromu.
- Published in:
- Türk Pediatri Arşivi, 2016, v. 51, n. 2, p. 106, doi. 10.5152/TurkPediatriArs.2016.1551
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- Publication type:
- Article
Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy.
- Published in:
- Acta Neurologica Belgica, 2017, v. 117, n. 1, p. 131, doi. 10.1007/s13760-016-0709-z
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- Publication type:
- Article
Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.
- Published in:
- Metabolic Brain Disease, 2014, v. 29, n. 3, p. 809, doi. 10.1007/s11011-014-9552-1
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- Publication type:
- Article
Association between vitamin D receptor gene FokI polymorphism and mortality in patients with sepsis.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-023-08971-8
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- Publication type:
- Article
Association between vitamin D receptor gene FokI polymorphism and mortality in patients with sepsis.
- Published in:
- Molecular Biology Reports, 2023, v. 51, n. 1, p. 1, doi. 10.1007/s11033-023-08971-8
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- Publication type:
- Article
The relation of arterial stiffness with intrauterine growth retardation.
- Published in:
- Pediatrics International, 2009, v. 51, n. 6, p. 807, doi. 10.1111/j.1442-200X.2009.02905.x
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- Publication type:
- Article
Effect of zinc sulfate on common cold in children: Randomized, double blind study.
- Published in:
- Pediatrics International, 2007, v. 49, n. 6, p. 842, doi. 10.1111/j.1442-200X.2007.02448.x
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- Publication type:
- Article
Biliary atresia in Turkish children.
- Published in:
- Pediatrics International, 2004, v. 46, n. 2, p. 158, doi. 10.1046/j.1442-200x.2004.01875.x
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- Publication type:
- Article
Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics.
- Published in:
- 2020
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- Publication type:
- journal 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
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
Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations.
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- 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
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.
- Published in:
- 2016
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- Publication type:
- journal article
Correction to: Evaluation of the effects of miRNAs in familial Mediterranean fever.
- Published in:
- Clinical Rheumatology, 2019, v. 38, n. 3, p. 645, doi. 10.1007/s10067-018-04409-w
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- Publication type:
- Article
Evaluation of the effects of miRNAs in familial Mediterranean fever.
- Published in:
- Clinical Rheumatology, 2019, v. 38, n. 3, p. 635, doi. 10.1007/s10067-017-3914-0
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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
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
Smith-Lemli-Opitz Sendromu: Olgu Sunumu.
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- Erciyes Medical Journal / Erciyes Tip Dergisi, 2013, v. 35, n. 2, p. 83, doi. 10.5152/etd.2013.10
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- 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
Pelvis Magnetic Resonance Imaging to Diagnose Familial Partial Lipodystrophy.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 8, p. e512, doi. 10.1210/clinem/dgad063
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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
Von Hippel-Lindau Disease: The Importance of Retinal Hemangioblastomas in Diagnosis.
- Published in:
- Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2017, v. 47, n. 3, p. 180, doi. 10.4274/tjo.90912
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- Publication type:
- Article
Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.
- Published in:
- 2016
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- Publication type:
- journal article
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
Inovations in Muscular Dystrophy Treatment: Hopes and Challenges.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 14
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- Publication type:
- Article
Vitamin D receptor gene polymorphisms in ocular surface squamous cell neoplasms.
- Published in:
- European Journal of Ophthalmology, 2020, v. 30, n. 5, p. 901, doi. 10.1177/1120672119858225
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- Publication type:
- Article
O-09 A rare cause of acute pancreatitis: Werner Syndrome.
- Published in:
- JCEM Case Reports, 2024, v. 2, p. 1, doi. 10.1210/jcemcr/luad146.026
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- Publication type:
- Article
A New Mutation in the TBX5 Gene in Holt-Oram Syndrome: Two Cases in the Same Family and Prenatal Diagnosis.
- Published in:
- 2014
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- Publication type:
- Journal Article
A New Mutation in the TBX5 Gene in Holt–Oram Syndrome: Two Cases in the Same Family and Prenatal Diagnosis.
- Published in:
- Journal of Tropical Pediatrics, 2014, v. 60, n. 3, p. 257, doi. 10.1093/tropej/fmt109
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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
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- Publication type:
- Article
Editorial.
- Published in:
- Journal of Pediatric Research, 2020, v. 7, n. 1, p. VIII
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- Publication type:
- Article
Editorial.
- Published in:
- Journal of Pediatric Research, 2019, v. 6, n. 2, p. A-IX
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- Publication type:
- Article
Editorial.
- Published in:
- Journal of Pediatric Research, 2018, v. 5, n. 2, p. 1
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- Publication type:
- Article
Down Sendromlu Çocuklarda Hematolojik Maligniteler: Geçici Lösemi ve Akut Megakaryoblastik Lösemi.
- Published in:
- Journal of Pediatric Research, 2015, v. 2, n. 1, p. 46, doi. 10.4274/jpr.27146
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- Publication type:
- Article
The Evaluation of Epidemiological and Clinical Findings of 33 Children Observed with Henoch Schönlein Purpura.
- Published in:
- Journal of Pediatric Research, 2014, v. 1, n. 4, p. 199, doi. 10.4274/jpr.40085
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- Publication type:
- Article
Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 8, p. 693, doi. 10.1515/jpem-2024-0058
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- Publication type:
- Article
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.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 296, doi. 10.1159/000511609
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- Publication type:
- Article