Found: 71
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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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- Article
Inovations in Muscular Dystrophy Treatment: Hopes and Challenges.
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- Gazi Medical Journal, 2024, v. 35, p. 14
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- Article
O-09 A rare cause of acute pancreatitis: Werner Syndrome.
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- JCEM Case Reports, 2024, v. 2, p. 1, doi. 10.1210/jcemcr/luad146.026
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- Article
Association between vitamin D receptor gene FokI polymorphism and mortality in patients with sepsis.
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- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-023-08971-8
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- Article
Association between vitamin D receptor gene FokI polymorphism and mortality in patients with sepsis.
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- Molecular Biology Reports, 2023, v. 51, n. 1, p. 1, doi. 10.1007/s11033-023-08971-8
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- Article
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 504, doi. 10.1159/000531408
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- Article
Pelvis Magnetic Resonance Imaging to Diagnose Familial Partial Lipodystrophy.
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- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 8, p. e512, doi. 10.1210/clinem/dgad063
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- 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.
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- Turkiye Klinikleri Journal of Medical Sciences, 2022, v. 42, n. 3, p. 159, doi. 10.5336/medsci.2021-86664
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- Article
Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations.
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- Annals of Clinical Biochemistry, 2021, v. 58, n. 4, p. 335, doi. 10.1177/00045632211000102
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- Article
The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis.
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- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 7, p. 957, doi. 10.1515/jpem-2021-0018
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- Article
A Novel Molecular Indicator for Inhibitor Development in Haemophilia A.
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- Journal of Pediatric Research, 2021, v. 8, n. 2, p. 102, doi. 10.4274/jpr.galenos.2020.59354
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- Article
The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
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- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 4, p. 417, doi. 10.1515/jpem-2020-0410
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- Article
Type 2B Von Willebrand Disease Mimicking Autoimmune Thrombocytopenia in the Neonatal Period.
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- Erciyes Medical Journal / Erciyes Tip Dergisi, 2021, v. 43, n. 2, p. 201, doi. 10.14744/etd.2020.81557
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- 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.
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- 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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- 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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- 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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- Article
Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings.
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- Journal of Pediatric Research, 2020, v. 7, n. 4, p. 267, doi. 10.4274/jpr.galenos.2019.38278
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- Article
The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies.
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- Neurological Sciences, 2020, v. 41, n. 12, p. 3729, doi. 10.1007/s10072-020-04619-8
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- Article
Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings.
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- Journal of Pediatric Research, 2020, v. 7, n. 4, p. 267, doi. 10.4274/jpr.galenos.2019.38278
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- Article
Vitamin D receptor gene polymorphisms in ocular surface squamous cell neoplasms.
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- European Journal of Ophthalmology, 2020, v. 30, n. 5, p. 901, doi. 10.1177/1120672119858225
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- Article
Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics.
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- 2020
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- Publication type:
- journal 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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- 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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- Article
Clinical and molecular aspects of PTEN mutations in 10 pediatric patients.
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- Annals of Human Genetics, 2020, v. 84, n. 4, p. 324, doi. 10.1111/ahg.12380
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- Article
Hemofili B Moleküler Analizinde Türkiye Deneyimi: F9 Gen Mutasyon Spektrumu ve Genotip-Fenotip İlişkisi.
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- Turkiye Klinikleri Journal of Medical Sciences, 2020, v. 40, n. 3, p. 334, doi. 10.5336/medsci.2020-75066
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- Article
Atipik Teratoid Rabdoid Tümörlü Olgularda Demografik, Klinik, Patolojik Özelliklerin ve HSNF5 (SMARCB1)/INI1 Gen Mutasyonlarının Araştırılması.
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- 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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- Article
Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene.
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- Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 1, p. 109, doi. 10.4274/jcrpe.galenos.2019.2018.0198
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- Article
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia.
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- 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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- Article
Editorial.
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- Journal of Pediatric Research, 2020, v. 7, n. 1, p. VIII
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- Article
Editorial.
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- Journal of Pediatric Research, 2019, v. 6, n. 2, p. A-IX
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- Article
Evaluation of the effects of miRNAs in familial Mediterranean fever.
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- Clinical Rheumatology, 2019, v. 38, n. 3, p. 635, doi. 10.1007/s10067-017-3914-0
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- Article
Correction to: Evaluation of the effects of miRNAs in familial Mediterranean fever.
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- Clinical Rheumatology, 2019, v. 38, n. 3, p. 645, doi. 10.1007/s10067-018-04409-w
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- Article
Renal complications of lipodystrophy: A closer look at the natural history of kidney disease.
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- Clinical Endocrinology, 2018, v. 89, n. 1, p. 65, doi. 10.1111/cen.13732
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- Article
Intracranial Bleeding in a Female Hemophilia Patient: Molecular Analysis of the Factor 8 Gene and Determination of a Novel Mutation.
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- Turkish Journal of Hematology, 2018, v. 35, n. 3, p. 202, doi. 10.4274/tjh.2017.0385
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- Article
Editorial.
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- Journal of Pediatric Research, 2018, v. 5, n. 2, p. 1
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- Article
Farklı mutasyonlar taşıyan Apert sendromlu iki olgu: erken tanının önemi.
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- Türk Pediatri Arşivi, 2017, v. 52, n. 4, p. 231, doi. 10.5152/TurkPediatriArs.2016.3305
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- Article
Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy.
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- 2017
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- Publication type:
- journal article
A further family of Stromme syndrome carrying CENPF mutation.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1668, doi. 10.1002/ajmg.a.38173
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- Article
Von Hippel-Lindau Disease: The Importance of Retinal Hemangioblastomas in Diagnosis.
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- Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2017, v. 47, n. 3, p. 180, doi. 10.4274/tjo.90912
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- Article
Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy.
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- Acta Neurologica Belgica, 2017, v. 117, n. 1, p. 131, doi. 10.1007/s13760-016-0709-z
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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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- Article
Molecular Genetic Analysis of Survival Motor Neuron Gene in 460 Turkish Cases with Suspicious Spinal Muscular Atrophy Disease.
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- Iranian Journal of Child Neurology, 2016, v. 10, n. 4, p. 30
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- Article
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.
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- 2016
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- journal article
Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.
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- 2016
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- Publication type:
- journal article
Nadir bir seks kromozom bozukluğu: 48,XXYY sendromu.
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- Türk Pediatri Arşivi, 2016, v. 51, n. 2, p. 106, doi. 10.5152/TurkPediatriArs.2016.1551
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- Article
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
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- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0142154
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- 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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- Article
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.
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- 2015
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- Publication type:
- journal article
Genetic Analysis of Lipodystrophies and Recently Found Mutations.
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- 2015
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- Abstract
Phenotype-Genotype Correlations in Bardet-Biedl Syndrome Patients with Molecular Analysis.
- Published in:
- 2015
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- Publication type:
- Abstract