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Akademický článek

Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center.

Autor: Kocabey M; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey., Özkalaycı H; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey., Çankaya T; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey., Yılmaz Uzman C; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey., Çağlayan AO; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey., Ülgenalp A; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey., Erçal MD; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.

Publikováno v: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience [Int J Dev Neurosci] 2023 Aug; Vol. 83 (5), pp. 456-465. Date of Electronic Publication: 2023 Jun 06.

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Akademický článek

Hemoglobin A 1C can differentiate subjects with GCK mutations among patients suspected to have MODY.

Autor: Yılmaz Uzman C; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey., Erbaş İM; Department of Pediatric Endocrinology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey., Giray Bozkaya Ö; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey., Paketçi A; Department of Pediatric Endocrinology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey., Çağlayan AO; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey., Abacı A; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey., Kulalı MA; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey., Böber E; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey., Kekilli A; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey., Çinleti T; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey., Erçal MD; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey.; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey., Demir K; Department of Pediatric Endocrinology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey.

Publikováno v: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2022 Oct 05; Vol. 35 (12), pp. 1528-1536. Date of Electronic Publication: 2022 Oct 05 (Print Publication: 2022).

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Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct.

Autor: Cinleti T; Branch of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, İzmir, Turkey., Yılmaz Uzman C; Branch of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, İzmir, Turkey., Akyol Ş; Branch of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, İzmir, Turkey., Tüfekçi Ö; Branch of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, İzmir, Turkey., Erçal MD; Branch of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, İzmir, Turkey., Giray Bozkaya Ö; Branch of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, İzmir, Turkey.

Publikováno v: Molecular syndromology [Mol Syndromol] 2022 May; Vol. 13 (3), pp. 200-205. Date of Electronic Publication: 2022 Jan 12.

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Akademický článek

Length polymorphism of heterochromatic segment of the Y chromosome in boys with acute leukemia.

Autor: Erçal MD; Department of Pediatrics, Dokuz Eylül University Hospital, Izmir, Turkey., Bröndum-Nielsen K

Publikováno v: Acta paediatrica Japonica : Overseas edition [Acta Paediatr Jpn] 1995 Oct; Vol. 37 (5), pp. 614-6.

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Akademický článek

Robinow syndrome: with special emphasis on dermatoglyphics and hand malformations (split hand).

Autor: Balci S; Hacettepe University, Department of Clinical Genetics, Ankara, Turkey., Erçal MD, Say B, Atasü M

Publikováno v: Clinical dysmorphology [Clin Dysmorphol] 1993 Jul; Vol. 2 (3), pp. 199-207.

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Akademický článek

Autosomal recessive alobar holoprosencephaly with cyclops in three female sibs: prenatal ultrasonographic diagnosis at 18th week.

Autor: Balci S; Department of Pediatrics, Hacettepe University, School of Medicine, Ankara, Turkey., Onol B, Erçal MD, Günay M, Besim A, Eryilmaz M

Publikováno v: Clinical dysmorphology [Clin Dysmorphol] 1993 Apr; Vol. 2 (2), pp. 165-8.

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