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Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 5, p. 2045, doi. 10.1007/s10072-020-04988-0
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- Publication type:
- Article
Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation.
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- Molecular Syndromology, 2021, v. 12, n. 5, p. 269, doi. 10.1159/000515697
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- Publication type:
- Article
Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome.
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- Molecular Syndromology, 2019, v. 10, n. 6, p. 339, doi. 10.1159/000504829
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- Publication type:
- Article
Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature.
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- Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 4, p. 358, doi. 10.4274/jcrpe.galenos.2020.2019.0001
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- Publication type:
- Article
Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-of- Function Mutation.
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- Journal of Clinical Research in Pediatric Endocrinology, 2019, v. 11, n. 4, p. 444, doi. 10.4274/jcrpe.galenos.2019.2018.0230
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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
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1549, doi. 10.3390/ijms22041549
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- Publication type:
- Article
Clinical and Molecular Features of Our Pompe Patients: Single-Center Experience.
- Published in:
- Medical Journal of Bakirkoy, 2020, v. 16, n. 1, p. 49, doi. 10.5222/BMJ.2020.91855
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- Publication type:
- Article
Neonatal bacterial meningitis in Turkey: epidemiology, risk factors, and prognosis.
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- Journal of Infection in Developing Countries, 2013, v. 7, n. 2, p. 73
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- Publication type:
- Article
Brucellosis impairs endothelial functions in chronic symptomatic patients without overt cardiac involvement.
- Published in:
- Archives of the Turkish Society of Cardiology / Türk Kardiyoloji Derneği Arşivi, 2015, v. 43, n. 3, p. 242, doi. 10.5543/tkda.2015.72025
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- Publication type:
- Article
Clinical and Cytogenetic Evaluations of Patients with Turner Syndrome: Are We Aware Enough?
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- 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
Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 6, p. 575, doi. 10.1515/jpem-2023-0551
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- Publication type:
- Article
Screening of non-syndromic early-onset child and adolescent obese patients in terms of LEP, LEPR, MC4R and POMC gene variants by next-generation sequencing.
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- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 8, p. 1041, doi. 10.1515/jpem-2022-0027
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- Publication type:
- Article
Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development.
- Published in:
- Turkish Journal of Medical Sciences, 2020, v. 50, n. 6, p. 1573, doi. 10.3906/sag-1901-170
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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
Kromozom 22q11.2 Delesyon Sendromu Tanılı Hastaların Klinik ve Laboratuvar Özellikleri.
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- Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi, 2021, v. 30, n. 2, p. 117, doi. 10.5336/pediatr.2021-81283
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- Publication type:
- Article
Galaktozemi tanılı olgularımızın klinik ve genetik değerlendirilmesi.
- Published in:
- Türk Pediatri Arşivi, 2016, v. 51, n. 4, p. 204, doi. 10.5152/TurkPediatriArs.2016.3759
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- Publication type:
- Article
A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissue.
- Published in:
- Turkish Journal of Pediatrics, 2020, v. 62, n. 5, p. 826, doi. 10.24953/turkjped.2020.05.015
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- Publication type:
- Article
The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome.
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- Turkish Journal of Pediatrics, 2019, v. 61, n. 4, p. 589, doi. 10.24953/turkjped.2019.04.017
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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
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 1, p. 69, doi. 10.1093/hmg/ddab224
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- Publication type:
- Article
A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.938814
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- Publication type:
- Article
Spectrum of Clinical Manifestations in Turkish Patients with Williams-Beuren Syndrome: A Monocentric Study.
- Published in:
- Journal of Pediatric Research, 2021, v. 8, n. 3, p. 297, doi. 10.4274/jpr.galenos.2021.10179
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- Publication type:
- 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
Orodental, Facial and Clinical Features of Mutation-Positive Noonan Syndrome: A Monocentric Study.
- Published in:
- 2020
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- Publication type:
- journal article
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
A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall–Smith syndrome and Malan syndrome.
- Published in:
- International Journal of Developmental Neuroscience, 2023, v. 83, n. 5, p. 479, doi. 10.1002/jdn.10280
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- Publication type:
- Article