Biallelic Variants in Kitlg Cause Waardenburg Syndrome Type 2, Albinism-Deafness Syndrome and Oculocutaneous Albinism
| dc.contributor.author | Girisha, Katta | |
| dc.contributor.author | Vona, Barbara | |
| dc.contributor.author | Schwartzbaum, Daniel | |
| dc.contributor.author | Rodriguez, Alejandro A. | |
| dc.contributor.author | Lewis, Solange S. | |
| dc.contributor.author | Toosi, Mehran Beiraghi | |
| dc.contributor.author | Maroofian, Reza | |
| dc.date.accessioned | 2025-05-10T17:46:38Z | |
| dc.date.available | 2025-05-10T17:46:38Z | |
| dc.date.issued | 2023 | |
| dc.description | Vona, Barbara/0000-0002-6719-3447 | en_US |
| dc.description.sponsorship | Bio-CARe Woman Scientist Award, Department of Biotechnology, Ministry of Science and Technology, Government of India [BT/Bio-CARe/07/9889/2013-14]; John T. and Winifred M. Hayward Foundation; German Research Foundation Collaborative Research Center 889 | en_US |
| dc.description.sponsorship | Funding was provided by the Bio-CARe Woman Scientist Award, Department of Biotechnology, Ministry of Science and Technology, Government of India (grant no. BT/Bio-CARe/07/9889/2013-14) (SSL and KMG), the John T. and Winifred M. Hayward Foundation (to MT), and the German Research Foundation Collaborative Research Center 889 (BV). | en_US |
| dc.identifier.issn | 1018-4813 | |
| dc.identifier.issn | 1476-5438 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14720/16773 | |
| dc.language.iso | en | en_US |
| dc.publisher | Springernature | en_US |
| dc.relation.ispartof | 55th European-Society-of-Human-Genetics (ESHG) Conference -- JUN 11-14, 2022 -- Vienna, AUSTRIA | en_US |
| dc.rights | info:eu-repo/semantics/closedAccess | en_US |
| dc.title | Biallelic Variants in Kitlg Cause Waardenburg Syndrome Type 2, Albinism-Deafness Syndrome and Oculocutaneous Albinism | en_US |
| dc.type | Conference Object | en_US |
| dspace.entity.type | Publication | |
| gdc.author.id | Vona, Barbara/0000-0002-6719-3447 | |
| gdc.author.wosid | Toosi, Mehran/K-7403-2019 | |
| gdc.author.wosid | Ghayoor Karimiani, Ehsan/Afs-7844-2022 | |
| gdc.author.wosid | Duman, Duygu/Aaf-8093-2020 | |
| gdc.author.wosid | Nampoothiri, Sheela/Aaq-4854-2021 | |
| gdc.author.wosid | Houge, Sofia/I-2049-2019 | |
| gdc.author.wosid | Houlden, Henry/C-1532-2008 | |
| gdc.author.wosid | Vona, Barbara/H-7377-2019 | |
| gdc.coar.access | metadata only access | |
| gdc.coar.type | text::conference output | |
| gdc.description.department | T.C. Van Yüzüncü Yıl Üniversitesi | en_US |
| gdc.description.departmenttemp | [Girisha, Katta; Lewis, Solange S.] Kasturba Med Coll & Hosp, Dept Med Genet, Manipal, India; [Girisha, Katta; Lewis, Solange S.] Manipal Acad Higher Educ, Manipal, India; [Girisha, Katta; Radhakrishnan, Periyasamy] Manipal Univ Technol Business Incubator Manipal, Suma Genom Private Ltd, Manipal, Karnataka, India; [Vona, Barbara] Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany; [Vona, Barbara] Univ Med Ctr Gottingen, Inst Auditory Neurosci, Gottingen, Germany; [Vona, Barbara] Univ Med Ctr Gottingen, InnerEarLab, Gottingen, Germany; [Schwartzbaum, Daniel; Rodriguez, Alejandro A.; Sineni, Claire J.; Bademci, Guney; Tekin, Mustafa] Univ Miami, John P Hussman Inst Human Genom, Miller Sch Med, Miami, FL USA; [Toosi, Mehran Beiraghi] Mashhad Uni Med Sci, Ghaem Hosp, Pediat Neurol Dept, Mashhad, Razavi Khorasan, Iran; [Bozan, Nazim; Akin, Ramazan] Yuzuncu Yil Univ, Dept Otolaryngol, Fac Med, Van, Turkiye; [Doosti, Mohammad] Next Generat Genet Polyclin, Dept Med Genet, Mashhad, Razavi Khorasan, Iran; [Manju, Ramachandran] Renai Medicity, Cochin, Kerala, India; [Duman, Duygu] Ankara Univ, Dept Audiol, Fac Hlth Sci, Ankara, Turkiye; [Nampoothiri, Sheela] Amrita Inst Med Sci & Res Ctr, Dept Paediat Genet, Kochi, India; [Karimiani, Ehsan Ghayoor] St Georges Univ London, Mol & Clin Sci Inst, Cranmer Terrace, London SW17 0RE, England; [Karimiani, Ehsan Ghayoor] Islamic Azad Univ, Mashhad Branch, Innovat Med Res Ctr, Mashhad, Razavi Khorasan, Iran; [Houl-Den, Henry] UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England; [Bademci, Guney; Tekin, Mustafa] Univ Miami, Dr John T Macdonald Fdn, Miller Sch Med, Dept Human Genet, Miami, FL USA; [Houge, Sofia Douzgou] Haukeland Hosp, Dept Med Genet, Bergen, Norway; [Houge, Sofia Douzgou] Univ Manchester, Div Evolut Infect & Gen, Sch Biol Sci, Fac Biol Med & Hlth, Manchester M13 9PL, England | en_US |
| gdc.description.endpage | 369 | en_US |
| gdc.description.publicationcategory | Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı | en_US |
| gdc.description.scopusquality | Q1 | |
| gdc.description.startpage | 369 | en_US |
| gdc.description.volume | 31 | en_US |
| gdc.description.woscitationindex | Science Citation Index Expanded - Conference Proceedings Citation Index - Science | |
| gdc.description.wosquality | Q1 | |
| gdc.identifier.wos | WOS:001050507001240 | |
| gdc.index.type | WoS |