Found: 17
Select item for more details and to access through your institution.
An 8-month-old infant with hypercalcemia and hyperphosphatemia—Answers.
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 3, p. 563, doi. 10.1007/s00467-020-04666-5
- By:
- Publication type:
- Article
An 8-month-old infant with hypercalcemia and hyperphosphatemia: Questions.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
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
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 characteristics of 26 fetuses with lethal multiple congenital contractures.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 6, p. 596, doi. 10.1111/cge.14490
- By:
- Publication type:
- Article
Revisiting TOP2B‐related phenotypes: Three new cases and literature review.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 2, p. 251, doi. 10.1111/cge.14341
- By:
- Publication type:
- Article
Functional loss of ubiquitin‐specific protease 14 may lead to a novel distal arthrogryposis phenotype.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 4, p. 421, doi. 10.1111/cge.14117
- By:
- Publication type:
- Article
Clinical exome sequencing in neuromuscular diseases: an experience from Turkey.
- Published in:
- Neurological Sciences, 2020, v. 41, n. 8, p. 2157, doi. 10.1007/s10072-020-04304-w
- By:
- Publication type:
- Article
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45933-5
- By:
- Publication type:
- Article
Successful Kidney Transplantation in MYH-9-Related Disease Presenting with Severe Macrothrombocytopenia.
- Published in:
- Turkish Journal of Hematology, 2023, v. 40, n. 3, p. 232, doi. 10.4274/tjh.galenos.2023.2023-0138
- 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
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
Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 498, doi. 10.1002/ajmg.a.63050
- 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
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
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