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Characteristic calcaneal ossification: an additional early radiographic finding in infants with fibrodysplasia ossificans progressiva.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome).
- Published in:
- 2005
- By:
- Publication type:
- journal article
Two male patients from an extended seven generation Turkish family diagnosed with Renpenning syndrome: identifying the causative mutation and review of the literature.
- Published in:
- European Research Journal, 2022, v. 8, n. 3, p. 420, doi. 10.18621/eurj.924346
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- 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
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- Publication type:
- 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
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.
- Published in:
- EMBO Molecular Medicine, 2023, v. 15, n. 5, p. 1, doi. 10.15252/emmm.202217078
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- Publication type:
- Article
Identification of the parental origin of polysomy in two 49,XXXXY cases.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 6, p. 426, doi. 10.1111/j.1399-0004.1997.tb02504.x
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- Publication type:
- Article
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23327-1
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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
Biallelic TERT variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1226, doi. 10.1002/ajmg.a.62602
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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
Characteristic dental pattern with hypodontia and short roots in Fraser syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1681, doi. 10.1002/ajmg.a.61610
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- Publication type:
- Article
Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 123, doi. 10.1002/ajmg.a.60686
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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
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 460, doi. 10.1002/ajmg.a.37426
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- Publication type:
- Article
Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2407, doi. 10.1002/ajmg.a.36640
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- Publication type:
- Article
Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2398, doi. 10.1002/ajmg.a.36648
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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
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
Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1798, doi. 10.1002/ajmg.a.35420
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- Publication type:
- Article
Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 236, doi. 10.1002/ajmg.a.34390
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- Publication type:
- Article
Prenatal diagnosis of frontonasal dysplasia with anterior encephalocele.
- Published in:
- 2013
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- Publication type:
- Case Study
Evaluation of mental retardation -- Part 2: The factors that elucidate the etiologic diagnosis of the patients with mental retardation or multiple congenital abnormality and mental retardation.
- Published in:
- Journal of Pediatric Neurosciences, 2007, v. 2, n. 2, p. 53, doi. 10.4103/1817-1745.36763
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- Publication type:
- Article
Evaluation of mental retardation -- Part 1: Etiologic classification of 4659 patients with mental retardation or multiple congenital abnormality and mental retardation.
- Published in:
- Journal of Pediatric Neurosciences, 2007, v. 2, n. 2, p. 45, doi. 10.4103/1817-1745.36762
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- Publication type:
- Article
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.
- Published in:
- Nature Genetics, 2012, v. 44, n. 6, p. 709, doi. 10.1038/ng.2259
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- Publication type:
- Article
CEP152 is a genome maintenance protein disrupted in Seckel syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 1, p. 23, doi. 10.1038/ng.725
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- Publication type:
- Article
Mutations in PYCR1 cause cutis laxa with progeroid features.
- Published in:
- Nature Genetics, 2009, v. 41, n. 9, p. 1016, doi. 10.1038/ng.413
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- Publication type:
- Article
Erratum: Mutations in different components of FGF signaling in LADD syndrome.
- Published in:
- 2006
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- Publication type:
- Correction Notice
Mutations in different components of FGF signaling in LADD syndrome.
- Published in:
- Nature Genetics, 2006, v. 38, n. 4, p. 414, doi. 10.1038/ng1757
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- Publication type:
- Article
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.
- Published in:
- Nature Genetics, 2005, v. 37, n. 5, p. 468, doi. 10.1038/ng1548
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- Publication type:
- Article
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.
- Published in:
- Nature Genetics, 2000, v. 25, n. 4, p. 423, doi. 10.1038/78113
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- Publication type:
- Article
Angelman syndrome: clinical findings and follow-up data of 14 patients.
- Published in:
- Turkish Journal of Pediatrics, 2008, v. 50, n. 2, p. 137
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- Publication type:
- Article
Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger.
- Published in:
- Pediatric Radiology, 2015, v. 45, n. 8, p. 1239, doi. 10.1007/s00247-015-3292-1
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- Publication type:
- Article
Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger.
- Published in:
- 2015
- By:
- Publication type:
- journal article
GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2022, v. 85, n. 2, p. 162, doi. 10.26650/IUITFD.1011501
- By:
- Publication type:
- Article
HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2021, v. 84, n. 2, p. 186, doi. 10.26650/IUITFD.2020.0071
- 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
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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
- By:
- Publication type:
- Article
17β-Hydroxysteroid Dehydrogenase-3 Deficiency: Diagnosis, Phenotypic Variability, Population Genetics, and Worldwide Distribution of Ancient and de Novo Mutations.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 12, p. 4713, doi. 10.1210/jc.84.12.4713
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- Publication type:
- Article
Etiologic Evaluation in 247 Children with Global Developmental Delay at Istanbul, Turkey.
- Published in:
- Journal of Tropical Pediatrics, 2005, v. 51, n. 5, p. 310, doi. 10.1093/tropej/fmi023
- By:
- Publication type:
- Article
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
- Published in:
- Human Genetics, 2012, v. 131, n. 11, p. 1761, doi. 10.1007/s00439-012-1197-8
- By:
- Publication type:
- Article
Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 729, doi. 10.1038/ejhg.2014.190
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- Publication type:
- Article
A large duplication involving the IHH locus mimics acrocallosal syndrome.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 639, doi. 10.1038/ejhg.2011.250
- By:
- Publication type:
- Article
Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 861, doi. 10.1038/sj.ejhg.5200552
- By:
- Publication type:
- Article