Found: 40
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A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.
- Published in:
- Child's Nervous System, 2012, v. 28, n. 12, p. 2181, doi. 10.1007/s00381-012-1905-7
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- Publication type:
- Article
Noonan syndrome: molecular and clinical findings in individuals with PTPN11 pathogenic variants.
- Published in:
- Pamukkale Medical Journal, 2024, v. 17, n. 3, p. 542, doi. 10.31362/patd.1438458
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- Publication type:
- Article
Evaluation of the frequency of MEFV gene variants in patients with a pre-diagnosis of Familial Mediterranean Fever (FMF) in southeast Türkiye.
- Published in:
- Pamukkale Medical Journal, 2023, v. 16, n. 3, p. 456, doi. 10.31362/patd.1255344
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- Publication type:
- Article
İnfertil erkek hastalarda karyotip analizi ve Y kromozom mikrodelesyon analiz sonuçları.
- Published in:
- Pamukkale Medical Journal, 2021, v. 14, n. 3, p. 620, doi. 10.31362/patd.855716
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- Publication type:
- Article
Unusual hair findings in a child with cardiofaciocutaneous syndrome.
- Published in:
- International Journal of Dermatology, 2019, v. 58, n. 3, p. 354, doi. 10.1111/ijd.14087
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- Publication type:
- Article
Fibrillin-1 gene intron 56 polymorphism in Turkish children with mitral valve prolapse.
- Published in:
- Cardiology in the Young, 2010, v. 20, n. 2, p. 173, doi. 10.1017/S1047951109991284
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- Publication type:
- Article
Case Report: Autistic Disorder in Kabuki Syndrome.
- Published in:
- 2008
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- Publication type:
- Letter
GJB6 geninde G11R mutasyonuna sahip Clouston sendromlu bir Türk aile.
- Published in:
- Archives of the Turkish Dermatology & Venerology / Turkderm, 2015, v. 49, n. 2, p. 164, doi. 10.4274/turkderm.46343
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- Publication type:
- Article
A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene.
- Published in:
- Türk Pediatri Arşivi, 2014, v. 49, n. 2, p. 154, doi. 10.5152/tpa.2014.1187
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- Publication type:
- Article
The Molecular Spectrum of Βeta Thalassemia Mutations in Southeastern, Turkey.
- Published in:
- Gazi Medical Journal, 2023, v. 34, n. 1, p. 63, doi. 10.12996/gmj.2023.12
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- Publication type:
- Article
Duplicated urethra and a possible mullerian-renal-cervical spine (MURCS) association in a male child: a case report.
- Published in:
- Turkish Journal of Urology, 2012, v. 38, n. 1, p. 52, doi. 10.5152/tud.2012.012
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- Publication type:
- Article
17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 7/8, p. 957, doi. 10.1515/jpem-2014-0354
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- Publication type:
- Article
Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.
- Published in:
- 2017
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- Publication type:
- Case Study
Two newborn babies with generalized arterial calcification of infancy, two new mutations.
- Published in:
- Turkish Journal of Pediatrics, 2016, v. 58, n. 4, p. 419
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- Publication type:
- Article
A novel mutation in a case of pseudohypoparathyroidism type Ia.
- Published in:
- Turkish Journal of Pediatrics, 2016, v. 58, n. 1, p. 101
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- Publication type:
- Article
Novel mutation in SUCLA2 identified on sequencing analysis.
- Published in:
- Pediatrics International, 2016, v. 58, n. 7, p. 659, doi. 10.1111/ped.12921
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- Publication type:
- Article
Detection of Marker Chromosome in the Abortion Material; Does It Reflect the Karyotype of the Pregnancy Lost Tissue or the Maternal Decidual Tissue? Case Report.
- Published in:
- Turkiye Klinikleri Journal of Medical Sciences, 2011, v. 31, n. 5, p. 1293, doi. 10.5336/medsci.2009-14578
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- Publication type:
- Article
Detection of Marker Chromosome in the Abortion Material; Does It Reflect the Karyotype of the Pregnancy Lost Tissue or the Maternal Decidual Tissue? Case Report.
- Published in:
- Turkiye Klinikleri Journal of Medical Sciences, 2011, v. 31, n. 4, p. 1293, doi. 10.5336/medsci.2009-14578
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- Publication type:
- Article
Monosomy 1p36 Syndrome: the first case report from Turkey.
- Published in:
- 2011
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- Publication type:
- Journal Article
An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.
- Published in:
- 2008
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- Publication type:
- journal article
Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Infantile Osteopetrosis.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 76
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- Publication type:
- Article
Seroepidemiological survey of bovine tick-borne infections in the Black Sea Region of Turkey.
- Published in:
- Turkish Journal of Veterinary & Animal Sciences, 2016, v. 40, n. 2, p. 170, doi. 10.3906/vet-1506-3
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- Publication type:
- Article
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
- Published in:
- Human Mutation, 2017, v. 38, n. 4, p. 451, doi. 10.1002/humu.23175
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- Publication type:
- Article
Cover Image, Volume 38, Issue 4.
- Published in:
- Human Mutation, 2017, v. 38, n. 4, p. i, doi. 10.1002/humu.23215
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- Publication type:
- Article
Kraniofrontonazal Sendrom'lu bir Türk olgu.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63654
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- Publication type:
- Article
Early onset disease, anarthria, areflexia, and dystonia can be the distinctive features of SPG64, a very rare form of hereditary spastic paraplegias.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2712, doi. 10.1002/ajmg.a.62878
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- Publication type:
- Article
Two novel variants in SCARF2 gene underlie van den Ende‐Gupta syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1881, doi. 10.1002/ajmg.a.62707
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- Publication type:
- Article
From cataract to syndrome diagnosis: Revaluation of Warburg‐Micro syndrome Type 1 patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2325, doi. 10.1002/ajmg.a.62234
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- Publication type:
- Article
Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3132, doi. 10.1002/ajmg.a.38491
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- Publication type:
- Article
Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 385, doi. 10.1002/ajmg.a.36429
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- Publication type:
- Article
Gorlin-chaudhry-moss syndrome revisited: Expanding the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1737, doi. 10.1002/ajmg.a.35954
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- Publication type:
- Article
A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis.
- Published in:
- Turkish Journal of Pediatrics, 2011, v. 53, n. 3, p. 346
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- Publication type:
- Article
A case with a ring chromosome 22.
- Published in:
- 2008
- By:
- Publication type:
- Case Study
Targeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes: Analysis of a Turkish cohort.
- Published in:
- Journal of Orofacial Orthopedics/Fortschritte der Kieferorthopadie, 2022, v. 83, p. 65, doi. 10.1007/s00056-021-00284-4
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- Publication type:
- Article
A case with de novo inv dup del(8p) associated with dextrocardia and corpus callosum agenesis.
- Published in:
- Pediatrics International, 2010, v. 52, n. 5, p. 845, doi. 10.1111/j.1442-200X.2010.03181.x
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- Publication type:
- Article
Şanlıurfa yöresindeki Anofel larvalarının morfolojik tanımlanması ve üreme alanlarının fiziksel ve ekolojik özelliklerinin araştırılması.
- Published in:
- Turkish Bulletin of Hygiene & Experimental Biology / Türk Hijyen ve Deneysel Biyoloji, 2020, v. 77, n. 2, p. 207, doi. 10.5505/TurkHijyen.2019.00087
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- Publication type:
- Article
Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Osteopetrosis of Infancy.
- Published in:
- 2015
- By:
- Publication type:
- Letter to the Editor
Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Infantile Osteopetrosis.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 7, p. 938, doi. 10.1177/0883073816630087
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- Publication type:
- Article