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796 results
  1. ... GALE Gene and Variant Databases NCBI Gene ClinVar References Fridovich-Keil J, Bean L, He M, Schroer R. Epimerase Deficiency Galactosemia. ...
  2. ... ZEB2 Gene and Variant Databases NCBI Gene ClinVar References Adam MP, Conta J, Bean LJH. Mowat-Wilson Syndrome. 2007 Mar 28 [updated ...
  3. ... WILSON SYNDROME; MOWS Scientific Articles on PubMed PubMed References Adam MP, Conta J, Bean LJH. Mowat-Wilson Syndrome. 2007 Mar 28 [updated ...
  4. ... for the CAG repeat expansion has been described [ Bean & Bayrak-Toydemir 2014 ]. Table 7. Notable HTT Variants View in own window Reference Sequences DNA Nucleotide Change Predicted Protein Change Repeat ...
  5. ... Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, ... CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2003 Jul 17 [updated 2012 Aug 16]. ...
  6. ... Loss and Deafness, DFNA3 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 1998 Sep 28 [updated 2016 Dec 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [ ...
  7. ... Academy of Family Physicians) Also in Spanish Specifics Beans, Peas, and Lentils ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  8. ... CHAR SYNDROME; CHAR Scientific Articles on PubMed PubMed References Gelb BD. Char Syndrome. 2003 Aug 15 [updated 2020 May 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [ ...
  9. ... ADAR Gene and Variant Databases NCBI Gene ClinVar References Crow YJ. Aicardi-Goutieres Syndrome. 2005 Jun 29 [updated 2016 Nov 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [ ...
  10. ... RETENTION DISEASE; CMRD Scientific Articles on PubMed PubMed References Burnett JR, Hooper AJ, Hegele RA. Chylomicron Retention Disease. 2022 Mar 24. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [ ...
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