Found: 32
Select item for more details and to access through your institution.
Comparing the levels of CTLA‐4‐dependent biological defects in patients with LRBA deficiency and CTLA‐4 insufficiency.
- Published in:
- Allergy, 2022, v. 77, n. 10, p. 3108, doi. 10.1111/all.15331
- By:
- Publication type:
- Article
Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency.
- Published in:
- Allergy, 2022, v. 77, n. 3, p. 1004, doi. 10.1111/all.15010
- By:
- Publication type:
- Article
GENETIC AND CLINICAL PROFILING OF MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE PATIENTS; SINGLECENTER EXPERIENCE.
- Published in:
- Journal of Advanced Research in Health Sciences (JARHS) / Sağlık Bilimlerinde İleri Araştırmalar Dergisi (SABİAD), 2022, v. 5, n. 3, p. 140, doi. 10.26650/JARHS2022-1119899
- By:
- Publication type:
- Article
Primary Atopic Disorders: Expanding Field of Inborn Errors of Immunity.
- Published in:
- Turkish Journal of Immunology, 2024, v. 12, p. 60, doi. 10.4274/tji.galenos.2024.03779
- By:
- Publication type:
- Article
Nörofibromatozis tip 1 yeni tanı kriterlerine sahip çocukluk çağındaki hastaların klinik ve moleküler özellikleri.
- Published in:
- Ege Journal of Medicine, 2024, v. 63, n. 1, p. 115, doi. 10.19161/etd.1200311
- By:
- Publication type:
- Article
First Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 3, p. 247, doi. 10.1159/000536162
- By:
- Publication type:
- Article
Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 161, doi. 10.1159/000533733
- By:
- Publication type:
- Article
Lack of NAD(P)<sup>+</sup> transhydrogenase activity in patients with primary adrenal insufficiency due to NNT variants.
- Published in:
- European Journal of Endocrinology, 2024, v. 190, n. 2, p. 130, doi. 10.1093/ejendo/lvae011
- By:
- Publication type:
- Article
The musculoskeletal system manifestations in children with familial Mediterranean fever.
- Published in:
- Northern Clinics of Istanbul, 2020, v. 7, n. 5, p. 438, doi. 10.14744/nci.2020.96636
- By:
- Publication type:
- Article
Responding to COVID-19 in Istanbul: Perspective from genomic laboratory.
- Published in:
- Northern Clinics of Istanbul, 2020, v. 7, n. 3, p. 311, doi. 10.14744/nci.2020.30075
- By:
- Publication type:
- Article
The origin of SARS-CoV-2 in Istanbul: Sequencing findings from the epicenter of the pandemic in Turkey.
- Published in:
- Northern Clinics of Istanbul, 2020, v. 7, n. 3, p. 203, doi. 10.14744/nci.2020.90532
- By:
- Publication type:
- Article
Familial early-onset obesity in Turkish children: variants and polymorphisms in the melanocortin-4 receptor (MC4R) gene.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 5, p. 657, doi. 10.1515/jpem-2021-0756
- By:
- Publication type:
- Article
IFN-γR1 (CD119) ve IL-12Rβ1 (CD212) Eksikliğinin Akan Hücre Ölçer ile Analizi.
- Published in:
- Bulletin of Microbiology / Mikrobiyoloji Bulteni, 2023, v. 57, n. 1, p. 83, doi. 10.5578/mb.20239907
- By:
- Publication type:
- Article
Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 3, p. 634, doi. 10.1007/s10875-021-01191-4
- By:
- Publication type:
- Article
Inflammatory Bowel Disease and Guillain Barre Syndrome in FCHO1 Deficiency.
- Published in:
- 2021
- By:
- Publication type:
- Letter
A Patient with Novel ICOS Mutation Presented with Progressive Loss of B Cells.
- Published in:
- 2021
- By:
- Publication type:
- Letter
ADA2 Deficiency: Case Series of Five Patients with Varying Phenotypes.
- Published in:
- Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 253, doi. 10.1007/s10875-019-00734-0
- By:
- Publication type:
- Article
Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 5, p. e1924, doi. 10.1210/clinem/dgac016
- By:
- Publication type:
- Article
Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 1, p. e106, doi. 10.1210/clinem/dgab619
- By:
- Publication type:
- Article
Evaluation of common NLRP3 Q703K variant in pediatric patients with autoinflammatory disease: CAPS and PFAPA.
- Published in:
- Turkish Journal of Pediatrics, 2023, v. 65, n. 4, p. 650, doi. 10.24953/turkjped.2023.166
- By:
- Publication type:
- Article
The Protective Effects of Pyridoxine on Linezolid-Induced Hematological Toxicity, Hepatotoxicity, and Oxidative Stress in Rats.
- Published in:
- Turkish Archives of Pediatrics, 2023, v. 58, n. 3, p. 298, doi. 10.5152/TurkArchPediatr.2023.21363
- By:
- Publication type:
- Article
Different Genotypes in Prader-Willi Syndrome.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 85
- By:
- Publication type:
- Article
Clinical Characteristics of Children with Neurodevelopmental Delay and Pathogenic Copy Number Variations in Chromosomal Microarray Analysis.
- Published in:
- Journal of the Child / Çocuk Dergisi, 2022, v. 22, n. 3, p. 151, doi. 10.26650/jchild.2022.1112958
- By:
- Publication type:
- Article
Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity.
- Published in:
- Pediatric Allergy & Immunology, 2024, v. 35, n. 6, p. 1, doi. 10.1111/pai.14171
- By:
- Publication type:
- Article
A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8<sup>+</sup> T cells.
- Published in:
- Pediatric Allergy & Immunology, 2022, v. 33, n. 3, p. 1, doi. 10.1111/pai.13756
- By:
- Publication type:
- Article
Parents of ataxia‐telangiectasia patients display a distinct cellular immune phenotype mimicking ATM‐mutated patients.
- Published in:
- Pediatric Allergy & Immunology, 2021, v. 32, n. 2, p. 349, doi. 10.1111/pai.13387
- By:
- Publication type:
- Article
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 3, p. 1, doi. 10.1007/s10875-024-01661-5
- By:
- Publication type:
- Article
Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01620-6
- By:
- Publication type:
- Article
Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 2062, doi. 10.1007/s10875-023-01585-6
- By:
- Publication type:
- Article
Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases.
- Published in:
- Clinical Rheumatology, 2021, v. 40, n. 6, p. 2327, doi. 10.1007/s10067-020-05492-8
- By:
- Publication type:
- Article
Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases.
- Published in:
- Clinical Rheumatology, 2020, v. 39, n. 12, p. 3733, doi. 10.1007/s10067-020-05108-1
- By:
- Publication type:
- Article
Different Genotypes in Prader-Willi Syndrome.
- Published in:
- 2015
- By:
- Publication type:
- Abstract