Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Retinitis Pigmentosa and GJB2[original query] |
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The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. Pediatric research 2004 Jun 55 (6): 995-1000. Brownstein Zippora, Ben-Yosef Tamar, Dagan Orit, Frydman Moshe, Abeliovich Dvorah, Sagi Michal, Abraham Fabian A, Taitelbaum-Swead Riki, Shohat Mordechai, Hildesheimer Minka, Friedman Thomas B, Avraham Karen |
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genetics in medicine : official journal of the American College of Medical Genetics 2010 Aug 12 (8): 512-6. Kimberling William J, Hildebrand Michael S, Shearer A Eliot, Jensen Maren L, Halder Jennifer A, Trzupek Karmen, Cohn Edward S, Weleber Richard G, Stone Edwin M, Smith Richard J |
Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population. Journal of advanced research 2021 7 31 13-24. Souissi Amal, Ben Said Mariem, Ben Ayed Ikhlas, Elloumi Ines, Bouzid Amal, Mosrati Mohamed Ali, Hasnaoui Mehdi, Belcadhi Malek, Idriss Nabil, Kamoun Hassen, Gharbi Nourhene, Gibriel Abdullah A, Tlili Abdelaziz, Masmoudi Sab |
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