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Results 1 - 10 of 131 for dh
  1. NF1 gene 
    ... 1; NF1 NCBI Gene ClinVar Arun D, Gutmann DH. Recent advances in neurofibromatosis type 1. Curr Opin ... 2310-3. Citation on PubMed Dasgupta B, Gutmann DH. Neurofibromatosis 1: closing the GAP between mice and ...
    https://medlineplus.gov/genetics/gene/nf1 - Genetics
  2. COL2A1 gene 
    ... art.27354. Citation on PubMed Korkko J, Cohn DH, Ala-Kokko L, Krakow D, Prockop DJ. Widely ... A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH. Report of five novel and one recurrent COL2A1 ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  3. FLNB gene 
    ... S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP. A molecular and clinical ... L, Wessels MW, Bialer MG, Willems PJ, Cohn DH, Krakow D, Robertson SP. Mutations in FLNB cause ...
    https://medlineplus.gov/genetics/gene/flnb - Genetics
  4. Miller-Dieker syndrome 
    ... DIEKER LISSENCEPHALY SYNDROME; MDLS PubMed Allanson JE, Ledbetter DH, Dobyns WB. Classical lissencephaly syndromes: does the face ... Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH. Refinement of a 400-kb critical region allows ...
    https://medlineplus.gov/genetics/condition/miller-dieker-syndrome - Genetics
  5. Achondrogenesis 
    ... 0216.1. Citation on PubMed Korkko J, Cohn DH, Ala-Kokko L, Krakow D, Prockop DJ. Widely ... Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR. Lethal skeletal ...
    https://medlineplus.gov/genetics/condition/achondrogenesis - Genetics
  6. STIM1 gene 
    ... KJ, Hyun C, Woo JS, Park CS, Kim DH, Lee EH. Stromal interaction molecule 1 (STIM1) regulates ... JS, Hwang JH, Hyun C, Cho CH, Kim DH, Lee EH. STIM1 negatively regulates Ca(2)(+) release ...
    https://medlineplus.gov/genetics/gene/stim1 - Genetics
  7. Metatropic dysplasia 
    ... S, Vriens J, Nilius B, Boyce BF, Cohn DH. Dominant TRPV4 mutations in nonlethal and lethal metatropic ... T, Rimoin DL, Lachman RS, Nilius B, Cohn DH. Mutations in the gene encoding the calcium-permeable ...
    https://medlineplus.gov/genetics/condition/metatropic-dysplasia - Genetics
  8. 17q12 deletion syndrome 
    ... D, Myers SM, Levy RV, Turner S, Ledbetter DH, Martin CL. 17q12 Recurrent Deletion Syndrome. 2016 Dec ... JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH. Deletion 17q12 is a recurrent copy number variant ...
    https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome - Genetics
  9. 16p11.2 deletion syndrome 
    ... FK, Olson J, Sherr E, Martin CL, Ledbetter DH, Spiro JE, Chung WK; Simons Variation in Individuals ... E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Mannik K, Martinet D, Mukherjee P, ...
    https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome - Genetics
  10. Lennox-Gastaut syndrome 
    ... Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, ... RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
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