Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Deafness and COL4A5[original query] |
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Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2002 Jul 17 (7): 1218-27. Gross Oliver, Netzer Kai-Olaf, Lambrecht Romy, Seibold Stefan, Weber Manfr |
[Genetic variants of familial hematuria associated genes in three families with hematuria with probands initially diagnosed as IgA nephropathy]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2019 Sep 57 (9): 674-679. Liu J W, Wang P, Huang J, Nie X J, Zhao F, Chen L Z, Li Z, Yu Z |
Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study. Molecular genetics & genomic medicine 2020 12 9 (2): e1576. Uliana Vera, Sebastio Paola, Riva Matteo, Carli Diana, Ruberto Claudio, Bianchi Laura, Graziano Claudio, Capelli Irene, Faletra Flavio, Pillon Roberto, Mattina Teresa, Sensi Alberto, Bonatti Francesco, Percesepe Anton |
Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife. Kidney international 2020 12 99 (6): 1451-1458. ?urowska Aleksandra M, Bielska Olga, Daca-Roszak Patrycja, Jankowski Maciej, Szczepa?ska Maria, Roszkowska-Bjanid Dagmara, Ku?ma-Mroczkowska El?bieta, Pa?czyk-Tomaszewska Ma?gorzata, Moczulska Anna, Dro?d? Dorota, Hadjipanagi Despina, Deltas Constantinos, Ostalska-Nowicka Danuta, Rabiega Alina, Taraszkiewicz Janina, Taranta-Janusz Katarzyna, Wieczorkiewicz-Plaza Anna, Jobs Katarzyna, Mews Judyta, Musia? Kinga, Jakubowska Anna, Nosek Hanna, Jander Anna E, Koutsofti Constantina, Stanis?awska-Sachadyn Anna, Kuleszo Dominka, Zi?tkiewicz Ewa, Lipska-Zi?tkiewicz Beata |
Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing. Gene 2022 2 819 146258. Liu Ya, Tan Meihua, Cai Luhang, Lv Lihui, Chen Qingqing, Chen Wei, Yang Hang, Xu Yapi |
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