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Results 1 - 10 of 11 for "Schuurs-Hoeijmakers" syndrome
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  1. PACS1 syndrome 
    ... disability-craniofacial dysmorphism-cryptorchidism syndrome PACS1-related syndrome Schuurs-Hoeijmakers syndrome SHMS Genetic Testing Registry: Schuurs-hoeijmakers syndrome PACS1- ...
    https://medlineplus.gov/genetics/condition/pacs1-syndrome - Genetics
  2. 16p11.2 deletion syndrome 
    ... Disorders (NORD) ClinicalTrials.gov CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB PubMed Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, Fransen van de Putte ...
    https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome - Genetics
  3. IFT43 gene 
    ... Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet. 2011 Jun;48(6):390- ...
    https://medlineplus.gov/genetics/gene/ift43 - Genetics
  4. PACS1 gene 
    ... 37476. Epub 2016 Feb 3. Citation on PubMed ... recognizable intellectual-disability syndrome. Am J Hum Genet. 2012 Dec 7;91( ...
    https://medlineplus.gov/genetics/gene/pacs1 - Genetics
  5. ADNP syndrome 
    ... Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, ... SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat ...
    https://medlineplus.gov/genetics/condition/adnp-syndrome - Genetics
  6. ADNP gene 
    ... Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, ... SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat ...
    https://medlineplus.gov/genetics/gene/adnp - Genetics
  7. SETBP1 haploinsufficiency disorder 
    ... disorder SETBP1 LoF syndrome SETBP1 loss of function syndrome SETBP1 related developmental delay ... Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill ...
    https://medlineplus.gov/.../setbp1-haploinsufficiency-disorder - Genetics
  8. White-Sutton syndrome 
    ... Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens ...
    https://medlineplus.gov/genetics/condition/white-sutton-syndrome - Genetics
  9. MEGDEL syndrome 
    ... Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  10. SERAC1 gene 
    ... Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans ...
    https://medlineplus.gov/genetics/gene/serac1 - Genetics
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