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Filiz Hazan

Showing results (41-50 of 53) with videos related to

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The Turkish Journal of Pediatrics|May 11, 2018
Child with RET proto-oncogene codon 634 mutationDilek İnce, Bengü Demirağ, Eda Ataseven, et al.
European Journal of Medical Genetics|November 1, 2015
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genesAsli Ece Solmaz, Huseyin Onay, Tahir Atik, et al.
British Journal of Haematology|February 8, 2017
HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosisTuba H Karapınar, Deniz Yılmaz Karapinar, Yeşim Oymak, et al.
Molecular Syndromology|December 17, 2025
A Candidate Gene for Cerebro-Oculo-Nasal Syndrome: A Zinc-Finger Gene <i>ZNF185</i> Located at Xq28Filiz Hazan, Ceren Yılmaz Uzman, Durdugül Ayyıldız Emecen, et al.
BMC Immunology|November 12, 2025
Expanding the clinical spectrum of Cernunnos/XLF deficiency: a literature review of a rare cause of severe combined immunodeficiency including a novel caseGizem Kabadayı, Özge Atay, Damla Baysal Bakır, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 14, 2021
Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variantsFiliz Hazan, Semra Gürsoy, Aycan Unalp, et al.
Turk Patoloji Dergisi|March 19, 2014
Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2CGülden Dınız, Filiz Hazan, Hülya Tosun Yildirim, et al.
Journal of Medical Genetics|October 7, 2016
A novel <i>TRAPPC11</i> mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrimaKatrin Koehler, Miroslav P Milev, Keshika Prematilake, et al.
Archivos Argentinos De Pediatria|May 16, 2017
Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case reportNagehan Katipoğlu, Tuba H Karapinar, Korean Demir, et al.
Plos One|August 1, 2012
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variantsStefania Zampieri, Silvia Cattarossi, Ana Maria Oller Ramirez, et al.
Pageof 6

Showing results (41-50 of 53) with videos related to

Sort By:
Pageof 6
The Turkish Journal of Pediatrics|May 11, 2018
Child with RET proto-oncogene codon 634 mutationDilek İnce, Bengü Demirağ, Eda Ataseven, et al.
European Journal of Medical Genetics|November 1, 2015
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genesAsli Ece Solmaz, Huseyin Onay, Tahir Atik, et al.
British Journal of Haematology|February 8, 2017
HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosisTuba H Karapınar, Deniz Yılmaz Karapinar, Yeşim Oymak, et al.
Molecular Syndromology|December 17, 2025
A Candidate Gene for Cerebro-Oculo-Nasal Syndrome: A Zinc-Finger Gene <i>ZNF185</i> Located at Xq28Filiz Hazan, Ceren Yılmaz Uzman, Durdugül Ayyıldız Emecen, et al.
BMC Immunology|November 12, 2025
Expanding the clinical spectrum of Cernunnos/XLF deficiency: a literature review of a rare cause of severe combined immunodeficiency including a novel caseGizem Kabadayı, Özge Atay, Damla Baysal Bakır, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 14, 2021
Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variantsFiliz Hazan, Semra Gürsoy, Aycan Unalp, et al.
Turk Patoloji Dergisi|March 19, 2014
Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2CGülden Dınız, Filiz Hazan, Hülya Tosun Yildirim, et al.
Journal of Medical Genetics|October 7, 2016
A novel <i>TRAPPC11</i> mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrimaKatrin Koehler, Miroslav P Milev, Keshika Prematilake, et al.
Archivos Argentinos De Pediatria|May 16, 2017
Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case reportNagehan Katipoğlu, Tuba H Karapinar, Korean Demir, et al.
Plos One|August 1, 2012
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variantsStefania Zampieri, Silvia Cattarossi, Ana Maria Oller Ramirez, et al.
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