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Results 1 - 10 of 61 for rfs
  1. ADNP syndrome 
    ... Pasmanik-Chor M, Cappuyns E, Elpeleg O, Kooy RF, Bedrosian-Sermone S. Premature primary tooth eruption in ... Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N. A SWI/ ...
    https://medlineplus.gov/genetics/condition/adnp-syndrome - Genetics
  2. TRNT1 deficiency 
    ... L, Hughes S, Bonney DK, Bottomley SS, Wynn RF, Laxer RM, Minniti CP, Moppett J, Bordon V, ... RM, Schnieders MJ, Lentz SR, Tucker BA, Mullins RF, Scheetz TE, Stone EM, Slusarski DC. Hypomorphic mutations ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  3. JAK3-deficient severe combined immunodeficiency 
    ... G, Savoldi G, Cranston T, Vihinen M, Schumacher RF. Mutations in severe combined immune deficiency (SCID) due ... PubMed Vihinen M, Villa A, Mella P, Schumacher RF, Savoldi G, O'Shea JJ, Candotti F, Notarangelo ...
    https://medlineplus.gov/...eficient-severe-combined-immunodeficiency - Genetics
  4. ADNP gene 
    ... Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N. A SWI/ ... T, Eichler EE, Van der Aa N, Kooy RF. The transcriptional regulator ADNP links the BAF (SWI/ ...
    https://medlineplus.gov/genetics/gene/adnp - Genetics
  5. TRNT1 gene 
    ... L, Hughes S, Bonney DK, Bottomley SS, Wynn RF, Laxer RM, Minniti CP, Moppett J, Bordon V, ... RM, Schnieders MJ, Lentz SR, Tucker BA, Mullins RF, Scheetz TE, Stone EM, Slusarski DC. Hypomorphic mutations ...
    https://medlineplus.gov/genetics/gene/trnt1 - Genetics
  6. JAK3 gene 
    ... G, Savoldi G, Cranston T, Vihinen M, Schumacher RF. Mutations in severe combined immune deficiency (SCID) due ... PubMed Vihinen M, Villa A, Mella P, Schumacher RF, Savoldi G, O'Shea JJ, Candotti F, Notarangelo ...
    https://medlineplus.gov/genetics/gene/jak3 - Genetics
  7. FMR1 gene 
    ... Hazlett HC, Bailey DB Jr, Moine H, Kooy RF, Tassone F, Gantois I, Sonenberg N, Mandel JL, ... Kros JM, Severijnen LA, Berry-Kravis EM, Berman RF, Hagerman PJ, Willemsen R, Hagerman RJ, Hukema RK. ...
    https://medlineplus.gov/genetics/gene/fmr1 - Genetics
  8. CDKN2A gene 
    ... J, Hogg D, Holland EA, Kanetsky PA, Kefford RF, Landi MT, Lang J, Leachman SA, Mackie RM, ...
    https://medlineplus.gov/genetics/gene/cdkn2a - Genetics
  9. Senior-Løken syndrome 
    ... GA, Traboulsi EI, Lam BL, Fulton AB, Mullins RF, Sheffield VC, Jacobson SG. Variations in NPHP5 in ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  10. COL11A2 gene 
    ... GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
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