Výsledky vyhledávání - "Kaymakcalan, H."

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Eighth case of Li-Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype.

Autor: Edizadeh M; Medical Genetics Department, Genoks Genetic Diagnosis Center, Ankara, Turkey., Kaymakcalan H; Medical Genetics Department, Faculty of Medicine, Demiroğlu Bilim University, İstanbul, Turkey., Valilou SF; Medical Genetics Network (MeGeNe), Universal Scientific Education and Research Network (USERN), Tehran, Iran., Şahin Y; Medical Genetics Department, Genoks Genetic Diagnosis Center, Ankara, Turkey.; Fulgent Genetics, Temple City, California, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 May; Vol. 191 (5), pp. 1465-1469. Date of Electronic Publication: 2023 Feb 09.

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Prevalence of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly

Autor: Kaymakcalan, H., Kaya, I., Binici, N. Cevher, Ozbaran, B., Ozyurt, G., Erbilgin, S., Majroh, N.

[No Abstract Available]
'PTEN Research' in London, UK
Grant for this study is awarded by 'PTEN Research' in London, UK.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______9436::c223c4ab4c1a2456e3a0a13d4f431b7a
https://hdl.handle.net/11454/70179

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Akademický článek

Mutation spectrum of congenital heart disease in a consanguineous Turkish population.

Autor: Dong W; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York, USA., Kaymakcalan H; Department of Pediatrics, Demiroglu Bilim University, Istanbul, Turkey., Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA., Diab NS; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA., Tanıdır C; Department of Pediatrics, Mehmet Akif Ersoy Hospital, Istanbul, Turkey., Yalcin ASY; Department of Pediatrics, Demiroglu Bilim University, Istanbul, Turkey., Ercan-Sencicek AG; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Biomedical research and translational medicine, Masonic Medical Research Institute, Utica, New York, USA., Mane S; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA., Gunel M; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA., Lifton RP; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York, USA., Bilguvar K; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Department of Genetics, Yale Center for Genomic Analysis, New Haven, Connecticut, USA., Brueckner M; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Jun; Vol. 10 (6), pp. e1944. Date of Electronic Publication: 2022 Apr 28.

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Akademický článek

Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.

Autor: Kaymakcalan H; Pediatric Genetics Unit, Department of Pediatrics, Demiroglu Bilim University, Istanbul, Turkey., Kaya İ; Department of Child and Adolescent Psychiatry, Istanbul University Istanbul Faculty of Medicine, Istanbul, Turkey., Cevher Binici N; Department of Child and Adolescent Psychiatry, Dr Behcet Uz Child Disease and Surgery Training and Research Hospital, Istanbul, Turkey., Nikerel E; Department of Bioinformatics, Yeditepe University, Istanbul, Turkey., Özbaran B; Department of Child and Adolescent Psychiatry, Ege University Faculty of Medicine, Izmir, Turkey., Görkem Aksoy M; Department of Child and Adolescent Psychiatry, Ege University Faculty of Medicine, Izmir, Turkey., Erbilgin S; Department of Child and Adolescent Psychiatry, Prof. Dr. Cemil Tascioglu City Hospital, Istanbul, Turkey., Özyurt G; Department of Child and Adolescent Psychiatry, Izmir Katip Celebi University Faculty of Medicine, Izmir, Turkey., Jahan N; Department of Child and Adolescent Psychiatry, Ege University Faculty of Medicine, Izmir, Turkey., Çelik D; Department of Child and Adolescent Psychiatry, Ege University Faculty of Medicine, Izmir, Turkey., Yararbaş K; Department of Medical Genetics, Demiroglu Bilim University, Istanbul, Turkey., Yalçınkaya L; Department of Molecular Biology and Genetics, Bilkent University Faculty of Science, Ankara, Turkey., Köse S; Department of Child and Adolescent Psychiatry, Ege University Faculty of Medicine, Izmir, Turkey., Durak S; Department of Child and Adolescent Psychiatry, Dr Behcet Uz Child Disease and Surgery Training and Research Hospital, Istanbul, Turkey., Ercan-Sencicek AG; Masonic Medical Research Institute, Utica, New York, USA.; Yale University School of Medicine, New Haven, Connecticut, USA.; Department of Neurosurgery, Program on Neurogenetics, New Haven, Connecticut, USA.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Aug; Vol. 9 (8), pp. e1739. Date of Electronic Publication: 2021 Jul 16.

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FBOX07 mutation with juvenile Parkinsonism and behavioral disorders

Autor: ÇAĞLAYAN, AHMET OKAY, Kuzu, M., Durmaz, F. N., ULUKAN, Çağrı, Kaymakcalan, H., Akbostanci, C.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2605::e654677ddea79f359d2deb303472e222
https://avesis.deu.edu.tr/publication/details/366a8c3c-c373-42bc-a870-14576d5dc780/oai

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Akademický článek

miR-124 coordinates metabolic regulators acting at early stages of human neurogenesis.

Autor: Son, Geurim¹ (AUTHOR), Na, Yongwoo^2,3 (AUTHOR), Kim, Yongsung⁴ (AUTHOR), Son, Ji-Hoon¹ (AUTHOR), Clemenson, Gregory D.⁴ (AUTHOR), Schafer, Simon T.⁴ (AUTHOR), Yoo, Jong-Yeon⁵ (AUTHOR), Parylak, Sarah L.⁴ (AUTHOR), Paquola, Apua^4,6,7 (AUTHOR), Do, Hyunsu¹ (AUTHOR), Kim, Dayeon¹ (AUTHOR), Ahn, Insook¹ (AUTHOR), Ju, Mingyu¹ (AUTHOR), Kang, Chanhee S.¹ (AUTHOR), Ju, Younghee^5,8 (AUTHOR), Jung, Eunji¹ (AUTHOR), McDonald, Aidan H.⁴ (AUTHOR), Park, Youngjin⁹ (AUTHOR), Kim, Gilhyun¹⁰ (AUTHOR), Paik, Se-Bum^9,11 (AUTHOR)

Publikováno v: Communications Biology. 10/25/2024, Vol. 7 Issue 1, p1-14. 14p.

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