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Kidney International|January 25, 2007
The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effectM T F Wolf, B B Beck, F Zaucke, et al.Clinical Genetics|May 21, 2013
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndromeR G Coussa, E A Otto, H-Y Gee, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|June 22, 2000
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31M Vollmer, N Jeck, H H Lemmink, et al.Journal of Medical Genetics|June 11, 2009
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)E A Otto, K Tory, M Attanasio, et al.Journal of Medical Genetics|October 3, 2009
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mappingH M Harville, S Held, A Diaz-Font, et al.Kidney International|October 26, 2007
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisisM T F Wolf, S Saunier, J F O'Toole, et al.Nature Genetics|November 1, 2001
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failureR Birkenhäger, E Otto, M J Schürmann, et al.Kidney International|August 17, 2006
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disordersK Hasselbacher, R C Wiggins, V Matejas, et al.American Journal of Human Genetics|June 19, 1998
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndromeR Vargas-Poussou, D Feldmann, M Vollmer, et al.Pageof 8