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Results 1 - 10 of 21 for Mendelian inheritance
  1. Bardet-Biedl syndrome 
    ... PJ, Davidson WS, Beales PL, Lupski JR. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science. 2001 Sep 21;293(5538): ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  2. Cornelia de Lange syndrome 
    ... K, Wilson LC; University of Washington Center for Mendelian Genomics; ... fontanelle and X-linked inheritance. Hum Mol Genet. 2014 Jun 1;23(11): ...
    https://medlineplus.gov/.../condition/cornelia-de-lange-syndrome - Genetics
  3. Robinow syndrome 
    ... Sutton VR, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics; Lupski JR, Brunner HG, van Bon BW, ... Jhangiani SN, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics; Brunner HG, Sutton VR, Lupski JR, Carvalho ...
    https://medlineplus.gov/genetics/condition/robinow-syndrome - Genetics
  4. Perrault syndrome 
    ... MJ, Warner TT; University of Washington Center for Mendelian Genomics; Black GC, Trump D, Davis JR, Ahmad ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  5. Intestinal pseudo-obstruction 
    ... Muzny DM, Jhangiani S; Baylor-Hopkins Center for Mendelian Genomics; Gibbs RA, Lupski JR, Beaudet A. Heterozygous ...
    https://medlineplus.gov/.../condition/intestinal-pseudo-obstruction - Genetics
  6. Severe congenital neutropenia 
    ... L, Dale DC; University of Washington, Center for Mendelian Genomics; Jarvik GP. Association Between Absolute Neutrophil Count ...
    https://medlineplus.gov/.../condition/severe-congenital-neutropenia - Genetics
  7. Septo-optic dysplasia 
    ... L, McCarrier J, University Of Washington Center For Mendelian Genomics, Semina EV. Novel Genetic Diagnoses in Septo- ...
    https://medlineplus.gov/genetics/condition/septo-optic-dysplasia - Genetics
  8. Encephalocraniocutaneous lipomatosis 
    ... S, Amor DJ; University of Washington Center for Mendelian Genomics; Care4Rare Canada Consortium; Majewski J, Biesecker LG, ...
    https://medlineplus.gov/.../encephalocraniocutaneous-lipomatosis - Genetics
  9. Miller syndrome 
    ... in a family--remarks on the mode of inheritance: report on two sibs. Am J Med ... identifies the cause of a mendelian disorder. Nat Genet. 2010 Jan;42(1):30- ...
    https://medlineplus.gov/genetics/condition/miller-syndrome - Genetics
  10. SLC35A2-congenital disorder of glycosylation 
    ... J, Bamshad MJ; University of Washington Center for Mendelian Genomics; Freeze HH. Mosaicism of the UDP-galactose ...
    https://medlineplus.gov/...35a2-congenital-disorder-of-glycosylation - Genetics
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