Found: 27
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Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 3, p. 200, doi. 10.1159/000519364
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- Publication type:
- Article
A Novel Missense Mutation in HSD17B3 Gene in Two 46,XY Siblings with Female External Gelitalia.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, p. 17
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- Publication type:
- Article
A Case of Achondrogenesis Type 2/Hypochondrogenesis Due to a De Novo Mutation in the COL2A1 Gene.
- Published in:
- 2015
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- Publication type:
- Abstract
A Case of Achondrogenesis Type 2/Hypochondrogenesis Due to a De Novo Mutation in the COL2A1 Gene.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 80
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- Publication type:
- Article
Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 4, p. 523, doi. 10.1177/0883073815599262
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- Publication type:
- Article
Length polymorphism of heterochromatic segment of the Y chromosome in boys with acute leukemia.
- Published in:
- Pediatrics International, 1995, v. 37, n. 5, p. 614, doi. 10.1111/j.1442-200X.1995.tb03387.x
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- Publication type:
- Article
Long-standing fever and Angelman syndrome: Report of two cases.
- Published in:
- Journal of Paediatrics & Child Health, 2008, v. 44, n. 5, p. 308, doi. 10.1111/j.1440-1754.2008.01302.x
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- Publication type:
- Article
Mediterranean Fever (MEFV) Gene Variants in Kawasaki Disease in Turkish Children: Do They Influence the Disease Course?
- Published in:
- Journal of Clinical Practice & Research, 2024, v. 46, n. 3, p. 275, doi. 10.14744/cpr.2024.83003
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- Publication type:
- Article
Clinical and Cytogenetic Evaluations of Patients with Turner Syndrome: Are We Aware Enough?
- Published in:
- Erciyes Medical Journal / Erciyes Tip Dergisi, 2017, v. 39, n. 1, p. 12, doi. 10.5152/etd.2017.15070
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- Publication type:
- Article
Hemoglobin A<sub>1C</sub> can differentiate subjects with GCK mutations among patients suspected to have MODY.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 12, p. 1528, doi. 10.1515/jpem-2022-0381
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- Publication type:
- Article
Growth in Familial Mediterranean Fever: Effect of Attack Rate, Genotype and Colchicine Treatment.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2008, v. 21, n. 8, p. 789, doi. 10.1515/jpem.2008.21.8.789
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- Publication type:
- Article
Phenotypic spectrum of CHARGE syndrome based on clinical characteristics.
- Published in:
- Turkish Journal of Medical Sciences, 2018, v. 48, n. 5, p. 911, doi. 10.3906/sag-1611-107
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- Publication type:
- Article
Sık Görülen Pediatrik Gastrointestinal Sistem Hastalıklarına Genetik Yaklaşım.
- Published in:
- Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi, 2016, v. 25, n. 3, p. 159, doi. 10.5336/pediatr.2015-44876
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- Publication type:
- Article
Nadir Görülen Bir Turner Sendromu Karyotipi: 45,X/47,XXX.
- Published in:
- Journal of Current Pediatrics / Guncel Pediatri, 2014, v. 12, n. 1, p. 43, doi. 10.4274/jcp.02996
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- Publication type:
- Article
Expanding spectrum of SCN1A-related phenotype with novel mutations.
- Published in:
- Turkish Journal of Pediatrics, 2017, v. 59, n. 5, p. 570, doi. 10.24953/turkjped.2017.05.010
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- Publication type:
- Article
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study
Türkiye'de 2014 Yılı İçinde İzole Edilen Karbapeneme Dirençli Escherichia coli ve Klebsiella pneumoniae İzolatlarında Karbapenemaz Varlığının Araştırılması.
- Published in:
- Bulletin of Microbiology / Mikrobiyoloji Bulteni, 2016, v. 50, n. 1, p. 21, doi. 10.5578/mb.10695
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- Publication type:
- Article
Identification of PCDH19 gene mutations/deletions in patients with early onset epilepsy.
- Published in:
- Annals of Indian Academy of Neurology, 2020, v. 23, n. 2, p. 206, doi. 10.4103/aian.AIAN_465_19
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- Publication type:
- Article
Kayseri-Hacılar'da İlköğretim Okulu Öğrencilerinde Bağırsak Parazitlerinin Araştırılması.
- Published in:
- Turkish Journal of Parasitology / Türkiye Parazitoloji Dergisi, 2011, v. 35, n. 2, p. 96, doi. 10.5152/tpd.2011.24
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- Publication type:
- Article
Metisilin dirençli Staphylococcus aureus suşlarının antibiyotiklere in-vitro duyarlılıkları.
- Published in:
- Dicle Medical Journal / Dicle Tip Dergisi, 2011, v. 38, n. 4, p. 466, doi. 10.5798/diclemedj.0921.2011.04.0067
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- Publication type:
- Article
Termination of pregnancy for fetal abnormalities: main arguments and a decision-tree model.
- Published in:
- 2015
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- Publication type:
- journal article
Turner Syndrome and Its Variants.
- Published in:
- Journal of Pediatric Research, 2017, v. 4, n. 4, p. 171, doi. 10.4274/jpr.35744
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- Publication type:
- Article
A RARE CAUSE OF MALE PSEUDOHERMAPHRODITISM: 46, XY GONADAL DYSGENESIS (SWYER SYNDROME).
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum.
- Published in:
- Cytogenetic & Genome Research, 2018, v. 153, n. 4, p. 175, doi. 10.1159/000486775
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- Publication type:
- Article
Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center.
- Published in:
- International Journal of Developmental Neuroscience, 2023, v. 83, n. 5, p. 456, doi. 10.1002/jdn.10278
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- Publication type:
- Article
Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 298, doi. 10.1111/j.1399-0004.1991.tb03029.x
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- Publication type:
- Article
Inversion Of Chromosome 15 In A Family With Benign Familial Infantile Seizures.
- Published in:
- Journal of Neurological Sciences, 2008, v. 25, n. 1, p. 55
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- Publication type:
- Article