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Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center.
- Published in:
- Archives of Gynecology & Obstetrics, 2022, v. 305, n. 2, p. 323, doi. 10.1007/s00404-021-06125-4
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- Publication type:
- Article
Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features.
- Published in:
- 2017
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- Publication type:
- Case Study
IL11 is elevated in systemic sclerosis and IL11-dependent ERK signalling underlies TGFβ-mediated activation of dermal fibroblasts.
- Published in:
- Rheumatology, 2021, v. 60, n. 12, p. 5820, doi. 10.1093/rheumatology/keab168
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- Publication type:
- Article
De novo mutations in PLXND1 and REV3L cause Möbius syndrome.
- Published in:
- Nature Communications, 2015, v. 6, n. 6, p. 7199, doi. 10.1038/ncomms8199
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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
ALX4 related parietal foramina mimicking encephalocele in prenatal period.
- Published in:
- 2016
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- Publication type:
- journal article
A New Family with a Novel OTUD6B Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 3, p. 206, doi. 10.1159/000519557
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- 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
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- Publication type:
- Article
Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.
- Published in:
- EMBO Molecular Medicine, 2023, v. 15, n. 11, p. 1, doi. 10.15252/emmm.202317973
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- Publication type:
- Article
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing.
- Published in:
- EMBO Molecular Medicine, 2023, v. 15, n. 2, p. 1, doi. 10.15252/emmm.202216478
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- Publication type:
- Article
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of ?-dystroglycan.
- Published in:
- Nature Genetics, 2012, v. 44, n. 5, p. 581, doi. 10.1038/ng.2253
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- Publication type:
- Article
A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects.
- Published in:
- Advanced Science, 2021, v. 8, n. 13, p. 1, doi. 10.1002/advs.202101786
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- Publication type:
- Article
A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects.
- Published in:
- Advanced Science, 2021, v. 8, n. 13, p. 1, doi. 10.1002/advs.202101786
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- Publication type:
- Article
A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects.
- Published in:
- Advanced Science, 2021, v. 8, n. 5, p. 1, doi. 10.1002/advs.202001100
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- Publication type:
- Article
Neurodevelopmental Defects: A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects (Adv. Sci. 5/2021).
- Published in:
- Advanced Science, 2021, v. 8, n. 5, p. 1, doi. 10.1002/advs.202170027
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- 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
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- 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
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- 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
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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
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
Expanding the spectrum of syndromic PPP2R3C‐related XY gonadal dysgenesis to XX gonadal dysgenesis.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 2, p. 221, doi. 10.1111/cge.14086
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- Publication type:
- Article
A classical phenotype of Duchenne muscular dystrophy in a girl with X; autosome translocation.
- Published in:
- 2014
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- Publication type:
- Case Study
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.
- Published in:
- 2015
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- Publication type:
- journal 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
Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
- Published in:
- Fetal Diagnosis & Therapy, 2024, v. 51, n. 3, p. 285, doi. 10.1159/000536324
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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
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
- Published in:
- Human Mutation, 2020, v. 41, n. 1, p. 265, doi. 10.1002/humu.23921
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- Publication type:
- Article
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
- Published in:
- Human Mutation, 2016, v. 37, n. 9, p. 847, doi. 10.1002/humu.23026
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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
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
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- Publication type:
- Article
FETAL BRAIN SHRINKAGE: A RARE, MYSTIFYING ANOMALY.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2019, v. 82, n. 2, p. 123, doi. 10.26650/IUITFD.2018.0008
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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
PRENATAL DÖNEMDE TANI KOYULAN İZOLE YARIK EL/ AYAK MALFORMASYONU.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2018, v. 81, n. 1, p. 37
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- 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
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- Publication type:
- Article
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 21, p. 3729, doi. 10.1093/hmg/ddac120
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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
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
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
Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin‐B receptor (LBR)‐related regressive spondylometaphyseal dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 253, doi. 10.1002/ajmg.a.62479
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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
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2740, doi. 10.1002/ajmg.a.40662
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- Publication type:
- Article
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 187, doi. 10.1002/ajmg.a.38538
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- Publication type:
- Article
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3136, doi. 10.1002/ajmg.a.38490
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- Publication type:
- Article
An Unusual Presentation of Kabuki Syndrome with Orbital Cysts, Microphthalmia, and Cholestasis with Bile Duct Paucity.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3282, doi. 10.1002/ajmg.a.37931
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- Publication type:
- Article
Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1391, doi. 10.1002/ajmg.a.37652
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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
- By:
- Publication type:
- Article
Fraser syndrome due to mutations in GRIP1-Clinical phenotype in two families and expansion of the mutation spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 837, doi. 10.1002/ajmg.a.36343
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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
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006683
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- Publication type:
- Article
Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.
- Published in:
- 2019
- By:
- Publication type:
- Abstract