Authors: Maryam Hajilari, Atefeh Sharifinya, Teymoor Khosravi, Anvarsadat Kianmehr, Mohammad Hossein Taziki, Ayyoob Khosravi, Morteza Oladnabi
Superior Title: International Journal of Pediatrics, Vol 11, Iss 1, Pp 17286-17298 (2023)
Subject Terms: hearing loss, ،c.35delg mutation, ،gjb2 gene, ،connexin 26, ،autosomal recessive nonsyndromic hearing loss (arnshl), Pediatrics, RJ1-570
File Description: electronic resource
Authors: Rosemary Ida Kabahuma, Wolf‐Dieter Schubert, Christiaan Labuschagne, Denise Yan, Michael Sean Pepper, Xue‐Zhong Liu
Superior Title: Molecular Genetics & Genomic Medicine, Vol 10, Iss 10, Pp n/a-n/a (2022)
Subject Terms: autosomal recessive nonsyndromic hearing loss, DFNB28, indigenous South Africans, TRIOBP R1 and R2 repeat motifs, Genetics, QH426-470
File Description: electronic resource
Relation: https://doaj.org/toc/2324-9269
Authors: Kabahuma, Rosemary Ida, Schubert, Wolf-Dieter, Labuschagne, Christiaan, Yan, Denise, Pepper, Michael Sean, Liu, Xue-Zhong
Subject Terms: Autosomal recessive nonsyndromic hearing loss, DFNB28, Indigenous South Africans, TRIOBP R1 and R2 repeat motifs
File Description: application/pdf
Relation: Kabahuma, R.I., Schubert, W-D, Labuschagne, C., Yan, D., Pepper, M.S., & Liu, X-Z (2022). Elucidation of repeat motifs R1- and R2- related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals. Molecular Genetics & Genomic Medicine, 10, e2015. https://doi.org/10.1002/mgg3.2015.; 2324-9269 (online); http://hdl.handle.net/2263/91512
Authors: Čada, ZdeněkAff1, Šafka Brožková, Dana, Balatková, Zuzana, Plevová, Pavlína, Rašková, Dagmar, Laštůvková, Jana, Černý, Rudolf, Bandúrová, Veronika, Koucký, Vladimír, Hrubá, Silvie, Komarc, Martin, Jenčík, Ján, Poisson Marková, Simona, Plzák, Jan, Kluh, Jan, Seeman, Pavel
Superior Title: European Archives of Oto-Rhino-Laryngology: and Head & Neck. 276(12):3353-3358
Superior Title: Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Subject Terms: autosomal recessive nonsyndromic hearing loss, connexin 26, connexin 30, GJB2 mutation, GJB6 mutation, Genetics, QH426-470
File Description: electronic resource
Relation: https://doaj.org/toc/2324-9269
Authors: Parya Alipour, Mohammad Amin Tabatabaiefar, Somayeh Reiisi, Najmeh Fattahi, Azam Pourahmadian, Mortaza Hashemzadeh-Chaleshtori
Superior Title: مجله دانشکده پزشکی اصفهان, Vol 33, Iss 346, Pp 1308-1317 (2015)
Subject Terms: DFNB63, LRTOMT gene, Autosomal recessive nonsyndromic hearing loss, Genetic linkage analysis, Iran, Medicine, Medicine (General), R5-920
File Description: electronic resource
Authors: Battelino, Saba, Klancar, Gasper, Kovac, Jernej, Battelino, Tadej, Trebusak Podkrajsek, Katarina
Superior Title: European Archives of Oto-Rhino-Laryngology: and Head & Neck. May 2016 273(5):1151-1154
Superior Title: Journal of Kerman University of Medical Sciences, Vol 21, Iss 6, Pp 540-550 (2014)
Subject Terms: d7s2425 marker, slc26a4, autosomal recessive nonsyndromic hearing loss (arnshl), iranian population, Immunologic diseases. Allergy, RC581-607, Diseases of the circulatory (Cardiovascular) system, RC666-701
File Description: electronic resource
Authors: Atefeh Khosh-Aeen, Fatemeh Pourfatemi, Kimia Kahrizi, Yaser Riaz-Alhosseini, Marziyeh Mohseni, Niloufar Bazzaz-Zadegan, Nooshin Nik-Zaat, Hossein Najm-Abadi
Superior Title: Journal of Rehabilitation, Vol 5, Iss 1, Pp 27-31 (2004)
Subject Terms: GJB2, CX26, Autosomal recessive nonsyndromic hearing loss, Therapeutics. Pharmacology, RM1-950
File Description: electronic resource
Authors: Majava, M. (Marja)
Subject Terms: Stickler syndrome, autosomal recessive nonsyndromic hearing loss, high myopia, predominantly ocular variant
File Description: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pissn/0355-3221; info:eu-repo/semantics/altIdentifier/eissn/1796-2234
Availability: http://urn.fi/urn:isbn:9789514283628
Index Terms: Stickler syndrome, autosomal recessive nonsyndromic hearing loss, high myopia, predominantly ocular variant, info:eu-repo/semantics/doctoralThesis, info:eu-repo/semantics/publishedVersion
URL:
info:eu-repo/semantics/altIdentifier/pissn/0355-3221
info:eu-repo/semantics/altIdentifier/eissn/1796-2234