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The association of RANK gene C421T and C575T polymorphisms with bone mineral density in postmenopausal Turkish women.
- Published in:
- Archives of Gynecology & Obstetrics, 2013, v. 288, n. 4, p. 917, doi. 10.1007/s00404-013-2831-y
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- Publication type:
- Article
Dirençli Epilepsinin Tedavi Edilebilir Bir Nedeni: Piridoksin Bağımlı Epilepsi.
- Published in:
- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2020, v. 14, n. 6, p. 461, doi. 10.12956/tchd.568456
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- Publication type:
- Article
Laboratory Genetic Testing in Clinical Practice 2016.
- Published in:
- BioMed Research International, 2017, v. 2017, p. 1, doi. 10.1155/2017/5798714
- By:
- Publication type:
- Article
An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Testiküler sperm ekstraksiyonu sonuçlarının AZF gen mutasyonları ile ilişkisi.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Böbrek tümörlü hastalarda VHL gen mutasyonu.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Testikler sperm ekstraksiyonu sonularının AZF gen mutasyonları ile ilişkisi.
- Published in:
- Turkish Journal of Urology, 2011, v. 37, n. 3, p. 229
- By:
- Publication type:
- Article
Bbrek tmrl hastalarda VHL gen mutasyonu.
- Published in:
- Turkish Journal of Urology, 2011, v. 37, n. 3, p. 191, doi. 10.5152/tud.2011.037
- By:
- Publication type:
- Article
Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2024, v. 16, n. 3, p. 361, doi. 10.4274/jcrpe.galenos.2022.2022-9-12
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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
Two Childhood Pheochromocytoma Cases due to von Hippel-Lindau Disease, One Associated with Pancreatic Neuroendocrine Tumor: A Very Rare Manifestation.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2018, v. 10, n. 2, p. 179, doi. 10.4274/jcrpe.5078
- By:
- Publication type:
- Article
Prevalence and Molecular Characteristics of Y Chromosome Microdeletions in Infertile Males: A Single-Center Study.
- Published in:
- 2015
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- Publication type:
- Abstract
Prevalence and Molecular Characteristics of Y Chromosome Microdeletions in Infertile Males: A Single-Center Study.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 74
- By:
- Publication type:
- Article
CYP4F22 Gene Mutations in Patients with Autosomal Recessive Congenital Ichthyosis: Identification of Two Novel Mutations.
- Published in:
- Turkish Journal of Dermatology / Turk Dermatoloji Dergisis, 2020, v. 14, n. 4, p. 90, doi. 10.4103/tjd.tjd_91_20
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- Publication type:
- Article
Molecular spectrum of α-globin gene mutations in the Aegean region of Turkey: first observation of three α-globin gene mutations in the Turkish population.
- Published in:
- 2015
- By:
- Publication type:
- journal article
The association between genetic polymorphisms in matrix metalloproteinases and caries experience.
- Published in:
- Clinical Oral Investigations, 2021, v. 25, n. 9, p. 5403, doi. 10.1007/s00784-021-03848-1
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- Publication type:
- Article
P-15 A rare case of Trichorhinophalangeal Syndrome Type I.
- Published in:
- JCEM Case Reports, 2024, v. 2, p. 1, doi. 10.1210/jcemcr/luad146.019
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- Publication type:
- Article
Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.
- Published in:
- Immunologic Research, 2024, v. 72, n. 4, p. 714, doi. 10.1007/s12026-024-09477-6
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- Publication type:
- Article
Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience.
- Published in:
- Immunologic Research, 2024, v. 72, n. 2, p. 225, doi. 10.1007/s12026-023-09426-9
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- Publication type:
- Article
Pediatrik Cerrahide Sık Karşılaşılan Konjenital Anomalilere Genetik Yaklaşım.
- Published in:
- Medical Journal of Bakirkoy, 2013, v. 9, n. 3, p. 91, doi. 10.5350/BTDMJB201309301
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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
- By:
- Publication type:
- Article
Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 1, p. 33, doi. 10.1515/jpem-2023-0298
- By:
- Publication type:
- Article
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 6, p. 530, doi. 10.1515/jpem-2022-0641
- By:
- Publication type:
- Article
Different clinical entities of the same mutation: a case report of three sisters with Wolfram syndrome and efficacy of dipeptidyl peptidase-4 inhibitor therapy.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 8, p. 1049, doi. 10.1515/jpem-2020-0699
- By:
- 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
- By:
- Publication type:
- Article
Investigation of miRNA and cytokine expressions in latent tuberculosis infection and active tuberculosis.
- Published in:
- Turkish Journal of Medical Sciences, 2022, v. 52, n. 3, p. 649, doi. 10.55730/1300-0144.5357
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- Publication type:
- Article
20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey.
- Published in:
- Turkish Journal of Medical Sciences, 2021, v. 51, n. 4, p. 1775, doi. 10.3906/sag-2006-103
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- Publication type:
- Article
Reasons for Adult Referrals for Genetic Counseling at a Genetics Center in Izmir, Turkey: Analysis of 8965 Cases over an Eleven-Year Period.
- Published in:
- Journal of Genetic Counseling, 2011, v. 20, n. 3, p. 287, doi. 10.1007/s10897-010-9342-9
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- Publication type:
- Article
A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference.
- Published in:
- Clinical Case Reports, 2021, v. 9, n. 4, p. 2023, doi. 10.1002/ccr3.3934
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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
- By:
- Publication type:
- Article
Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder.
- Published in:
- Acta Neurologica Belgica, 2023, v. 123, n. 1, p. 121, doi. 10.1007/s13760-021-01700-7
- By:
- Publication type:
- Article
Uniparental Disomy of Chromosome 4: A Case of Whole Chromosome UPD Presenting with LRBA Deficiency.
- Published in:
- Journal of Clinical Immunology, 2024, v. 45, n. 1, p. 1, doi. 10.1007/s10875-024-01803-9
- By:
- Publication type:
- Article
A case of acute lymphoblastic leukemia with additional chromosomes X and 5 associated with a Philadelphia chromosome in the bone marrow.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants.
- Published in:
- Scandinavian Journal of Immunology, 2022, v. 95, n. 6, p. 1, doi. 10.1111/sji.13163
- By:
- Publication type:
- Article
Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages.
- Published in:
- Scandinavian Journal of Immunology, 2019, v. 89, n. 2, p. N.PAG, doi. 10.1111/sji.12737
- By:
- Publication type:
- Article
The Association of minor congenital anomalies and childhood cancer.
- Published in:
- Pediatric Blood & Cancer, 2011, v. 56, n. 7, p. 1098, doi. 10.1002/pbc.23049
- By:
- Publication type:
- Article
Assessment of MMP levels in reversible and irreversible pulpitis and a randomized controlled trial comparing clinical success of two different calcium-silicate cements in pulpotomy treatment of primary molars with an 18-month follow-up.
- Published in:
- BMC Oral Health, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12903-024-04795-5
- By:
- Publication type:
- Article
Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C.
- Published in:
- Journal of Pediatric Research, 2018, v. 5, n. 1, p. 48, doi. 10.4274/jpr.58661
- By:
- Publication type:
- Article
Interview with Parents of Children with Down Syndrome: Their Perceptions and Feelings.
- Published in:
- Indian Journal of Pediatrics, 2011, v. 78, n. 6, p. 698, doi. 10.1007/s12098-010-0315-7
- By:
- Publication type:
- Article
Laboratory Genetic Testing in Clinical Practice 2014.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/574798
- By:
- Publication type:
- Article
Evolution of Genetic Techniques: Past, Present, and Beyond.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/461524
- By:
- Publication type:
- Article
ACE I/D and MTHFR C677T Gene Polymorphisms and Matrix Metalloproteinase-9 Gene Expression in Migraine Patients with and without Aura and Correlation with Cranial Magnetic Resonance Imaging Findings: A Case-Control Study.
- Published in:
- 2015
- By:
- Publication type:
- Case Study