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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
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- Publication type:
- Article
Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
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- Fetal Diagnosis & Therapy, 2024, v. 51, n. 3, p. 285, doi. 10.1159/000536324
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- Publication type:
- Article
Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency.
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- Hormone Research in Paediatrics, 2024, v. 97, n. 2, p. 126, doi. 10.1159/000531113
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- Publication type:
- Article
A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy.
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- Hormone Research in Paediatrics, 2024, v. 97, n. 2, p. 157, doi. 10.1159/000532000
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- Publication type:
- Article
HETEROPLASMY-ASSOCIATED MITOCHONDRIAL DNA VARIANTS IN HUMAN BLOOD AND SKELETAL MUSCLE SAMPLES.
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- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2024, v. 87, n. 1, p. 1, doi. 10.26650/IUITFD.1394708
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- Publication type:
- Article
Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.
- Published in:
- Annals of Human Genetics, 2023, v. 87, n. 6, p. 285, doi. 10.1111/ahg.12523
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- Publication type:
- Article
JAG1 MUTATION SPECTRUM IN CASES WITH ALAGILLE SYNDROME FROM TURKIYE.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2023, v. 86, n. 4, p. 327, doi. 10.26650/IUITFD.1321220
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- Publication type:
- Article
A CASE REPORT OF A RARE NONSENSE ZP1 VARIANT IN A PATIENT WITH OOCYTE MATURATION DEFECT.
- Published in:
- 2023
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- Publication type:
- Case Study
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1191159
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- Publication type:
- Article
Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families.
- Published in:
- BMC Oral Health, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12903-023-03029-4
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- Publication type:
- Article
Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 2, p. 152, doi. 10.1159/000527955
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- 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
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- Publication type:
- Article
A new enrichment approach for candidate gene detection in unexplained recurrent pregnancy loss and implantation failure.
- Published in:
- Molecular Genetics & Genomics, 2023, v. 298, n. 1, p. 253, doi. 10.1007/s00438-022-01972-5
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- Publication type:
- Article
The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients.
- Published in:
- Turkish Archives of Pediatrics, 2023, v. 58, n. 1, p. 98, doi. 10.5152/TurkArchPediatr.2022.22223
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- Publication type:
- Article
Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1503, doi. 10.1002/pd.6208
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- Publication type:
- Article
Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 3, p. 201, doi. 10.1111/cge.14177
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- Publication type:
- Article
Evaluation of growth, puberty, osteoporosis, and the response to long‐term bisphosphonate therapy in four patients with osteoporosis‐pseudoglioma syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2061, doi. 10.1002/ajmg.a.62742
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- Publication type:
- Article
Ovarian and paraovarian adrenal rest tumors are not uncommon in gonadectomy materials of historical congenital adrenal hyperplasia cases in childhood.
- Published in:
- European Journal of Endocrinology, 2022, v. 187, n. 1, p. K13, doi. 10.1530/EJE-21-0913
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- Publication type:
- Article
Long‐term follow‐up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1639, doi. 10.1002/ajmg.a.62664
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- 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
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- Publication type:
- Article
Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants.
- Published in:
- Calcified Tissue International, 2021, v. 109, n. 6, p. 633, doi. 10.1007/s00223-021-00879-4
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- Publication type:
- Article
Different phenotypes of transthyretin-associated familial amyloid polyneuropathy due to a mutation in p.Glu109Gln in members of the same family.
- Published in:
- Northern Clinics of Istanbul, 2021, v. 8, n. 4, p. 398, doi. 10.14744/nci.2020.98852
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- 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
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- 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
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- 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
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- Publication type:
- Article
SENDROMİK VE NON-SENDROMİK KRANİYOSİNOSTOZ OLGULARINDA FGFR1-3, TWIST1, MSX2, POR, FREM1 VE RAB23 GENLERİNİN MOLEKÜLER ANALİZİ.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2019, v. 82, n. 2, p. 116, doi. 10.26650/IUITFD.422258
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- Publication type:
- Article
APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE.
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- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2019, v. 82, n. 1, p. 5, doi. 10.26650/IUITFD.413596
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- 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
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- Publication type:
- Article
ALX4 related parietal foramina mimicking encephalocele in prenatal period.
- Published in:
- 2016
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- Publication type:
- journal article
Ungual squamous cell carcinoma in a patient with Mal de Meleda.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2016, v. 14, n. 5, p. 514, doi. 10.1111/ddg.12865
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- Publication type:
- Article
Unguales Plattenepithelkarzinom bei einem Patienten mit Mal de Meleda.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2016, v. 14, n. 5, p. 514, doi. 10.1111/ddg.12865_g
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- Publication type:
- Article
Mutations in CDK5 RAP2 cause Seckel syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 5, p. 467, doi. 10.1002/mgg3.158
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- Publication type:
- Article
Galactosemia and phantom absence seizures.
- Published in:
- Journal of Pediatric Neurosciences, 2014, v. 9, n. 3, p. 253, doi. 10.4103/1817-1745.147581
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- Publication type:
- Article
Mild nasal clefting may be predictive for ALX4 heterozygotes.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2054, doi. 10.1002/ajmg.a.36578
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- 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
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- Publication type:
- Article
Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 484, doi. 10.1002/ajmg.a.36277
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- Publication type:
- Article
The Turkish Hereditary Angioedema Pilot Study (TURHAPS): The First Turkish Series of Hereditary Angioedema.
- Published in:
- International Archives of Allergy & Immunology, 2011, v. 156, n. 4, p. 443, doi. 10.1159/000323915
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- Publication type:
- Article