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Newborn screening for SCID: the very first prospective pilot study from Türkiye.
- Published in:
- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1384195
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- Publication type:
- Article
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
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- 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
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- Publication type:
- Report
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
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- Publication type:
- Article
Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3).
- Published in:
- Neurological Sciences, 2021, v. 42, n. 9, p. 3871, doi. 10.1007/s10072-021-05100-w
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- Publication type:
- Article
Evaluation of MSX1 gene as the common candidate gene of nonsyndromic congenital hypodontia and cleft lip and palate.
- Published in:
- Journal of Cleft Lip Palate & Craniofacial Anomalies, 2017, v. 4, p. S31, doi. 10.4103/jclpca.jclpca_87_17
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- Publication type:
- Article
A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features.
- Published in:
- 2022
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- Publication type:
- Case Study
Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1707, doi. 10.1007/s00431-014-2330-6
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- Publication type:
- Article
Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I.
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00587
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- 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
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- 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
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- 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
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- 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
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- 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
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- Publication type:
- Article
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
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- Publication type:
- Article
A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 4, p. 431, doi. 10.4274/jcrpe.galenos.2022.2021-12-3
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- Publication type:
- Article
Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 1, p. 97, doi. 10.4274/jcrpe.galenos.2021.2020.0315
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- Publication type:
- Article
Central Precocious Puberty in an Infant with Sotos Syndrome and Response to Treatment.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2022, v. 14, n. 3, p. 356, doi. 10.4274/jcrpe.galenos.2021.2020.0273
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- Publication type:
- Article
Is Bioavailable Vitamin D Better Than Total Vitamin D to Evaluate Vitamin D Status in Obese Children?
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 4, p. 391, doi. 10.4274/jcrpe.galenos.2020.2021.0230
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- Publication type:
- Article
Clinical and Genetic Characteristics of Patients with Corticosterone Methyloxidase Deficiency Type 2: Novel Mutations in CYP11B2.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 2, p. 232, doi. 10.4274/jcrpe.galenos.2020.2019.0216
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- Publication type:
- Article
Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 1, p. 114, doi. 10.4274/jcrpe.galenos.2020.2020.0004
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- Publication type:
- Article
Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 3, p. 319, doi. 10.4274/jcrpe.galenos.2019.2019.0142
- By:
- Publication type:
- Article
A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2017, v. 9, n. 4, p. 371, doi. 10.4274/jcrpe.4577
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- Publication type:
- Article
Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2017, v. 9, n. 2, p. 163, doi. 10.4274/jcrpe.3839
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- Publication type:
- Article
A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2016, p. 484, doi. 10.4274/jcrpe.3128
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- Publication type:
- Article
Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis.
- Published in:
- 2016
- By:
- Publication type:
- Letter to the Editor
A Novel Missense Mutation in HSD17B3 Gene in Two 46,XY Siblings with Female External Gelitalia.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, p. 17
- By:
- Publication type:
- Article
Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis.
- Published in:
- 2016
- By:
- Publication type:
- Letter to the Editor
Crouzon Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, n. 3, p. 242, doi. 10.4274/jcrpe.2067
- By:
- Publication type:
- Article
Crouzon Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 83
- By:
- Publication type:
- Article
Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 83
- By:
- Publication type:
- Article
Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 7, p. 938, doi. 10.1177/0883073816630087
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- Publication type:
- Article
Two Novel Missense Mutations in Nonketotic Hyperglycinemia.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 6, p. 789, doi. 10.1177/0883073814535499
- By:
- Publication type:
- Article
Prenatal diagnosis of pulmonary arteriovenous malformations with a postnatal diagnosis of Osler–Weber–Rendu syndrome.
- Published in:
- Journal of Clinical Ultrasound, 2024, v. 52, n. 5, p. 658, doi. 10.1002/jcu.23681
- 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
Analysis of TP53 gene in uterine myomas: No mutations but P72R polymorphism is associated with myoma development.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2019, v. 45, n. 10, p. 2088, doi. 10.1111/jog.14071
- By:
- Publication type:
- Article
Combination of two different homozygote mutations in Pompe disease.
- Published in:
- Pediatrics International, 2016, v. 58, n. 3, p. 241, doi. 10.1111/ped.12873
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- Publication type:
- Article
Phenotypic and molecular characterization of five patients with PIK3CA‐related overgrowth spectrum (PROS).
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1792, doi. 10.1002/ajmg.a.62709
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- Publication type:
- Article
Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 705, doi. 10.1002/ajmg.a.61488
- By:
- Publication type:
- Article
Vici Syndrome in Siblings Born to Consanguineous Parents.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 220, doi. 10.1002/ajmg.a.37398
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- Publication type:
- Article
Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1239, doi. 10.1002/ajmg.a.36410
- 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
Histopathological analysis of the placental lesions in pregnancies complicated with IUGR and stillbirths in comparison with noncomplicated pregnancies.
- Published in:
- Journal of the Turkish-German Gynecological Association, 2011, v. 12, n. 2, p. 75, doi. 10.5152/jtgga.2011.19
- By:
- Publication type:
- Article
Hypomyelination and Congenital Cataract: Three Siblings Presentation.
- Published in:
- Journal of Pediatric Neurosciences, 2020, v. 15, n. 3, p. 270, doi. 10.4103/jpn.JPN_161_18
- By:
- Publication type:
- Article
Mitochondrial membrane protein-associated neurodegeneration in a Turkish patient.
- Published in:
- 2016
- By:
- Publication type:
- Letter to the Editor