Found: 31
Select item for more details and to access through your institution.
Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 2, p. 126, doi. 10.1159/000531113
- By:
- Publication type:
- Article
HETEROPLASMY-ASSOCIATED MITOCHONDRIAL DNA VARIANTS IN HUMAN BLOOD AND SKELETAL MUSCLE SAMPLES.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2024, v. 87, n. 1, p. 1, doi. 10.26650/IUITFD.1394708
- By:
- Publication type:
- Article
PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 4, p. 338, doi. 10.4274/jcrpe.galenos.2023.2023-4-4
- By:
- Publication type:
- Article
Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye.
- Published in:
- Medical Journal of Bakirkoy, 2023, v. 19, n. 2, p. 222, doi. 10.4274/BMJ.galenos.2023.2022.9-10
- By:
- Publication type:
- Article
Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye.
- Published in:
- Medical Journal of Bakirkoy, 2023, v. 19, n. 2, p. 222, doi. 10.4274/BMJ.galenos.2023.2022.9-10
- By:
- Publication type:
- Article
CLINICAL AND MOLECULAR RESULTS OF SIX CASES WITH ROBERTS SYNDROME: REVIEW OF CASES FROM TURKIYE.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2022, v. 85, n. 4, p. 501, doi. 10.26650/IUITFD.1130578
- By:
- Publication type:
- Article
TÜRK POPÜLASYONUNDA IRF7, TBK1, IFNAR1, IFNAR2 VE TLR3 GEN VARYANTLARININ POPÜLASYONLAR ARASI KARŞILAŞTIRMALARI VE ENFEKSİYON HASTALIKLARINDAKİ ÖNEMİ.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2022, v. 85, n. 3, p. 344, doi. 10.26650/IUITFD.1060030
- By:
- Publication type:
- Article
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2022, v. 14, n. 2, p. 153, doi. 10.4274/jcrpe.galenos.2022.2021-9-19
- By:
- Publication type:
- Article
BEND4 as a Candidate Gene for an Infection-Induced Acute Encephalopathy Characterized by a Cyst and Calcification of the Pons and Cerebellar Atrophy.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 12, doi. 10.1159/000517541
- By:
- Publication type:
- Article
Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
- Published in:
- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2021, v. 17, n. 3, p. 240, doi. 10.4274/tnd.2021.91298
- By:
- Publication type:
- Article
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2488, doi. 10.1002/ajmg.a.62261
- By:
- Publication type:
- Article
NOONAN SENDROMU’NUN PRENATAL TANISINDA PTPN11 GEN ANALİZLERİNİN ETKİNLİĞİ.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2021, v. 84, n. 1, p. 34, doi. 10.26650/IUITFD.2020.803356
- By:
- Publication type:
- Article
CHANGES IN CLINICAL AND CYTOGENETIC FINDINGS OF INVASIVE PRENATAL DIAGNOSIS FROM 1989 TO 2011 IN ISTANBUL; IMPACT OF THE BIOCHEMICAL SCREENING TESTS AND FETAL ULTRASONOGRAPHY.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2020, v. 83, n. 4, p. 315, doi. 10.26650/IUITFD.2020.0074
- By:
- Publication type:
- Article
Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 4, p. 183, doi. 10.1159/000509838
- By:
- Publication type:
- Article
Array-CGH Analizlerinde Saptanan De Novo Değişimlere Klinik Genetik Yaklaşım.
- Published in:
- Gazi Medical Journal, 2019, v. 30, n. 4, p. 361, doi. 10.12996/gmj.2019.93
- By:
- Publication type:
- Article
Utilization of neurosonography for evaluation of the corpus callosum malformations in the era of fetal magnetic resonance imaging.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2019, v. 45, n. 8, p. 1472, doi. 10.1111/jog.13995
- By:
- Publication type:
- Article
APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2019, v. 82, n. 1, p. 5, doi. 10.26650/IUITFD.413596
- By:
- Publication type:
- Article
RADİYAL IŞIN DEFEKTLERİNİN KLİNİK SINIFLANDIRMASI VE ETYOPATOGENEZİNİN ARAŞTIRILMASI.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2018, v. 81, n. 4, p. 127, doi. 10.26650/IUITFD.427250
- By:
- Publication type:
- Article
A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2018, v. 10, n. 3, p. 206, doi. 10.4274/jcrpe.0032
- By:
- Publication type:
- Article
Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases.
- Published in:
- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0395-z
- By:
- Publication type:
- Article
Interstitial Deletion 4q due to a Complex Rearrangement Involving Chromosomes 1, 2, 4, 8, 14 and 16.
- Published in:
- Gazi Medical Journal, 2018, v. 29, n. 3, p. 256, doi. 10.12996/gmj.2018.73
- By:
- Publication type:
- Article
Application of Next-Generation Sequencing Technology for CFTR Mutation Screening.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
Central Precocious Puberty in a Patient with Multiple Pituitary Hormone Deficiency Due to POU1F1 (PIT1) Gene Mutation.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
Multiple Pituitary Hormone Deficiency Associated with Pituitary Hyperplasia: A Case Report.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
Application of Next-Generation Sequencing Technology for CFTR Mutation Screening.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 55
- By:
- Publication type:
- Article
Central Precocious Puberty in a Patient with Multiple Pituitary Hormone Deficiency Due to POU1F1 (PIT1) Gene Mutation.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 72
- By:
- Publication type:
- Article
Multiple Pituitary Hormone Deficiency Associated with Pituitary Hyperplasia: A Case Report.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 81
- By:
- Publication type:
- Article
Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.
- Published in:
- Endocrine (1355008X), 2015, v. 49, n. 2, p. 479, doi. 10.1007/s12020-014-0498-1
- By:
- Publication type:
- Article
Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1322, doi. 10.1002/ajmg.a.36008
- By:
- Publication type:
- Article
A report of a patient with duplication of 7p13→pter and deletion of 2p23→pter due to a maternal 2p;7p translocation.
- Published in:
- Turkish Journal of Pediatrics, 2009, v. 51, n. 2, p. 174
- By:
- Publication type:
- Article
Pineal germinoma associated with multiple congenital melanocytic nevi: A unique presentation.
- Published in:
- Neuropathology, 2005, v. 25, n. 4, p. 336, doi. 10.1111/j.1440-1789.2005.00617.x
- By:
- Publication type:
- Article