Found: 169
Select item for more details and to access through your institution.
Mitotically Active Follicular Nodule in Early Childhood: A Case Report with a Novel Mutation in the Thyroglobulin Gene.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2024, v. 16, n. 3, p. 340, doi. 10.4274/jcrpe.galenos.2022.2022-8-20
- By:
- Publication type:
- Article
Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Vascular endothelial growth factor +405 C/G polymorphism is highly associated with an increased risk of endometriosis in Turkish women.
- Published in:
- Archives of Gynecology & Obstetrics, 2011, v. 283, n. 2, p. 267, doi. 10.1007/s00404-009-1344-1
- By:
- Publication type:
- Article
Neu-Laxova syndrome, grossly appearing normal on 20 weeks ultrasonographic scan, that manifested late in pregnancy: a case report.
- Published in:
- 2007
- By:
- Publication type:
- Report
Mavi sklera varlığıyla birlikte farklı fenotipik özelliklere sahip osteogenez imperfekta tip 5 olgusu.
- Published in:
- Mersin Üniversitesi sağlık Bilimleri Dergisi, 2021, v. 14, n. 2, p. 354, doi. 10.26559/mersinsbd.808861
- By:
- Publication type:
- Article
Hypokalemia and hearing loss in a 3-year-old boy: Answers.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Hypokalemia and hearing loss in a 3-year-old boy: Questions.
- Published in:
- Pediatric Nephrology, 2020, v. 35, n. 4, p. 615, doi. 10.1007/s00467-019-04379-4
- By:
- Publication type:
- Article
Mild hypotonia and recurrent seizures in an 8-month-old boy: Questions.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 10, p. 1727, doi. 10.1007/s00467-019-04231-9
- By:
- Publication type:
- Article
Mild hypotonia and recurrent seizures in an 8-month-old boy: Answers.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Multiple Pterygium Sendromu: Olgu Sunumu, Fetal Akinezi Sekansı ve Pterygium Sendromu ile Karşılaştırıİması.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
Glucose-6-phosphate dehydrogenase gene Ala365Thr mutation in an Iraqi family with confusing clinical differences.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
First observation of hemoglobin G-Norfolk in the Turkish population.
- Published in:
- Turkish Journal of Biochemistry / Turk Biyokimya Dergisi, 2021, v. 46, n. 1, p. 95, doi. 10.1515/tjb-2019-0476
- By:
- Publication type:
- Article
Clinical and laboratory findings and etiologies of genetic homocystinemia: a single-center experience.
- Published in:
- Acta Neurologica Belgica, 2024, v. 124, n. 1, p. 213, doi. 10.1007/s13760-023-02356-1
- By:
- Publication type:
- Article
Could miglustat be a potential candidate in the treatment of action myoclonus renal failure syndrome?
- Published in:
- 2023
- By:
- Publication type:
- Letter
Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.
- Published in:
- Acta Neurologica Belgica, 2023, v. 123, n. 5, p. 1841, doi. 10.1007/s13760-022-02090-0
- By:
- Publication type:
- Article
Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine.
- Published in:
- Acta Neurologica Belgica, 2021, v. 121, n. 6, p. 1755, doi. 10.1007/s13760-020-01505-0
- By:
- Publication type:
- Article
Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients.
- Published in:
- Acta Neurologica Belgica, 2021, v. 121, n. 2, p. 529, doi. 10.1007/s13760-019-01246-9
- By:
- Publication type:
- Article
Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish child.
- Published in:
- 2020
- By:
- Publication type:
- Letter
p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
A novel mutation in the desmoplakin gene in two female siblings with a rare form of dilated cardiomyopathy: Carvajal syndrome.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
A child with L-2 hydroxyglutaric aciduria presenting with dilated cardiomyopathy: Coincidence or a new syndrome?
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Clinical Features and Outcomes of 23 Patients with Wiskott-Aldrich Syndrome: A Single-Center Experience.
- Published in:
- Turkish Journal of Hematology, 2020, v. 37, n. 4, p. 271, doi. 10.4274/tjh.galenos.2020.2020.0334
- By:
- Publication type:
- Article
Importance of DNA Sequencing for Abnormal Hemoglobins Detected by HPLC Screening.
- Published in:
- Turkish Journal of Hematology, 2020, v. 37, n. 2, p. 134, doi. 10.4274/tjh.galenos.2020.2019.0470
- By:
- Publication type:
- Article
Antioxidant Therapy in a Patient with Hyperprolinemia Type 1 Presenting with Mild Neuromotor Retardation and Speech Disturbance.
- Published in:
- 2021
- By:
- Publication type:
- letter
Cardiac Tamponade in Gorham-Stout Syndrome Associated with GATA2 Mutation.
- Published in:
- 2020
- By:
- Publication type:
- case study
Congenital Hypofibrinogenemia or Afibrinogenemia?; A Diagnostic Dilemma in Neonatal Period.
- Published in:
- Osmangazi Journal of Medicine / Osmangazi Tip Dergisi, 2021, v. 43, n. 3, p. 288, doi. 10.20515/otd.693468
- By:
- Publication type:
- Article
Siblings with Ethylmalonic Encephalopathy: Case Report.
- Published in:
- Journal of Pediatric Research, 2018, v. 5, p. 51, doi. 10.4274/jpr.65477
- By:
- Publication type:
- Article
"Double Hit" Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages.
- Published in:
- Journal of Pediatric Research, 2018, v. 5, p. 47, doi. 10.4274/jpr.55477
- By:
- Publication type:
- Article
A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome.
- Published in:
- Journal of Pediatric Research, 2018, v. 5, p. 54, doi. 10.4274/jpr.63825
- By:
- Publication type:
- Article
A Novel Beta Globin Gene Polymorphism in Turkish Population: IVS-II 706 G>A.
- Published in:
- 2015
- By:
- Publication type:
- Letter to the Editor
Further observation of Hemoglobin Fontainebleau (a21(B2) Ala-Pro) in a Turkish family.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s43042-020-0046-x
- By:
- Publication type:
- Article
A rare structural myopathy: Nemaline myopathy.
- Published in:
- Türk Pediatri Arşivi, 2019, v. 54, n. 1, p. 49, doi. 10.5152/TurkPediatriArs.2018.4402
- By:
- Publication type:
- Article
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Are low maternal estriol levels a predictor for pro-opiomelanocortin (POMC) deficiency caused by POMC mutation during pregnancy?
- Published in:
- Prenatal Diagnosis, 2013, v. 33, n. 13, p. 1297, doi. 10.1002/pd.4226
- By:
- Publication type:
- Article
Aceruloplasminemia Presenting with Asymmetric Chorea Due to a Novel Frameshift Mutation.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, p. S67, doi. 10.1002/mdc3.13062
- By:
- Publication type:
- Article
Genetic and Phenotypic Analysis of Patients with Mucopolysaccharidosis type IIIB Co-morbid with Autism Spectrum Disorder.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 6
- By:
- Publication type:
- Article
When a Common Symptom of a Neonate Become an Unusual Diagnosis: A Case Report of HMG-Coa Lyase Deficiency with a Novel Mutation.
- Published in:
- Gazi Medical Journal, 2019, v. 30, n. 3, p. 298, doi. 10.12996/gmj.2019.74
- By:
- Publication type:
- Article
Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 303, doi. 10.1159/000536295
- By:
- Publication type:
- Article
Distinct Autism Spectrum Disorder Phenotype and Hand-Flapping Stereotypes: Two Siblings with Novel Homozygous Mutation in TRAPPC9 Gene and Literature Review.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 4, p. 263, doi. 10.1159/000522041
- By:
- Publication type:
- Article
An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 2, p. 146, doi. 10.1159/000518825
- By:
- Publication type:
- Article
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 2, p. 112, doi. 10.1159/000513111
- By:
- Publication type:
- Article
Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 2, p. 90, doi. 10.1159/000506722
- By:
- Publication type:
- Article
A Delayed Presentation of Arginase Deficiency Presenting with Status Epilepticus.
- Published in:
- Journal of the College of Physicians & Surgeons Pakistan, 2022, v. 32, n. 12, p. 1629, doi. 10.29271/jcpsp.2022.12.1629
- By:
- Publication type:
- Article
Unilateral Ectrodactyly in a Newborn with Trisomy 18 Syndrome: An Unusual Association.
- Published in:
- Journal of the College of Physicians & Surgeons Pakistan, 2015, v. 25, n. 8, p. 619
- By:
- Publication type:
- Article
Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
A Novel Mutation in the Lysyl Hydroxylase 1 Gene Causes Decreased Lysyl Hydroxylase Activity in an Ehlers–Danlos VIA Patient.
- Published in:
- Journal of Investigative Dermatology, 2005, v. 124, n. 5, p. 914, doi. 10.1111/j.0022-202X.2005.23727.x
- By:
- Publication type:
- Article
Otoimmün Poliendokrinopati-Kandidiazis-Ektodermal Distrofi (APECED) Sendrom'lu İki Kız Kardeş.
- Published in:
- Firat Tip Dergisi, 2015, v. 20, n. 4, p. 225
- By:
- Publication type:
- Article
Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 2, p. 1, doi. 10.1371/journal.pgen.1000833
- By:
- Publication type:
- Article
Evaluation of segregation patterns of 21;21 Robertsonian translocation along with sex chromosomes and interchromosomal effects in sperm nuclei of carrier by FISH technique.
- Published in:
- Molecular Reproduction & Development, 2002, v. 63, n. 2, p. 232, doi. 10.1002/mrd.10166
- By:
- Publication type:
- Article
Prenatal and postnatal findings in a case with the autosomal recessive type of Robinow syndrome.
- Published in:
- 2006
- By:
- Publication type:
- journal article