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Results 1 - 4 of 4 for weber congenital amaurosis 6
  1. ... retinal ganglion cells in patients with X-linked congenital stationary night ... Hellebrand H, Lorenz B, Weber BH, Wutz K, Gutwillinger N, Ruther K, Drescher ...
  2. ... Singh A, Koschak A, Striessnig J. Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression. J Neurochem. 2006 Mar;96(6):1648-58. doi: 10.1111/j.1471-4159. ...
  3. Port-Wine Stains (Nemours Foundation)  
    Birthmarks/Specifics ... Birthmarks ... Nemours Foundation ... birthmark, port-wine stain, port wine stain, rash, red birthmark, vascular birthmarks, strawberry birthmark, ...
  4. ... Ophthalmol. 2013 Sep-Nov;28(5-6):392-6. doi: 10.3109/08820538.2013.825299. Citation on PubMed Molday RS, Kellner U, Weber BH. X-linked juvenile retinoschisis: clinical diagnosis, genetic ...