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Hecht syndrome
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- ... on PubMed Hall CR, Wu Y, Shaffer LG, Hecht JT. Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4. Clin ... Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG. ... involved in Potocki-Shaffer syndrome. Eur J Hum Genet. 2005 May;13(5): ...
- ... Kruger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D. PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. Am J Hum Genet. 2013 Apr 4;92( ...
- ... Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG. Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Eur J Hum Genet. 2005 May;13(5): ...
- ... Thiele H, Nurnberg P, Yigit G, Jager M, Hecht J, Kruger U, Mielke T, Krawitz ... Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am ...
- ... Isau M, Fischer A, Dahl A, Kerick M, Hecht J, Kohler S, Jager M, Grunhagen J, de ... mental retardation syndrome. Nat Genet. 2010 Oct;42(10):827-9. ...
- ... IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002 ... K, Poletta FA, Orioli IM, Hecht JT, Buxo CJ, Butali A, Adeyemo WL, Vieira ...
- ... PubMed Central Lu J, Tiao G, Folkerth R, Hecht J, Walsh C, Sheen V. Overlapping expression of ...
- ... PubMed Tompson SW, Faqeih EA, Ala-Kokko L, Hecht JT, Miki R, Funari T, Funari VA, Nevarez ...
- ... Krawitz PM, Robinson PN, Ibrahim DM, Franke M, Hecht J, Lohan S, Dathe K, Nardone AM, Ferrari ...
- ... M001913200. Citation on PubMed Krawitz PM, Murakami Y, Hecht J, Kruger U, Holder SE, Mortier GR, Delle ...