 | Up a level |
Utsch, B; Brun-Heath, I; Staatz, G; Gravou-Apostolatou, C; Karle, S; Jacobs, U; Ludwig, M; Zenker, M; Dörr, H-G; Rascher, W; Mornet, E; Dötsch, J (2009). Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain? Experimental and clinical endocrinology & diabetes, 117(1), pp. 28-33. Stuttgart: Thieme 10.1055/s-2008-1073157
Gambhir, L; Höller, T; Müller, M; Schott, G; Vogt, H; Detlefsen, B; Ebert, A-K; Fisch, M; Beaudoin, S; Stein, R; Boyadjiev, S A; Gearhart, J P; Rösch, W; Utsch, B; Boemers, T M; Reutter, H; Ludwig, M (2008). Epidemiological survey of 214 families with bladder exstrophy-epispadias complex. Journal of urology, 179(4), pp. 1539-43. New York, N.Y.: Elsevier 10.1016/j.juro.2007.11.092
Hoefele, Julia; Wolf, Matthias T F; O'Toole, John F; Otto, Edgar A; Schultheiss, Ulla; Dêschenes, Georges; Attanasio, Massimo; Utsch, Boris; Antignac, Corinne; Hildebrandt, Friedhelm (2007). Evidence of oligogenic inheritance in nephronophthisis. Journal of the American Society of Nephrology, 18(10), pp. 2789-95. Hagerstown, Md.: Lippincott Williams & Wilkins 10.1681/ASN.2007020243
Buderus, S; Utsch, B; Huebner, A; Lentze, M J; Roth, C (2007). Dysphagia due to triple A syndrome: successful treatment of achalasia by balloon dilatation. Experimental and clinical endocrinology & diabetes, 115(8), pp. 533-6. Stuttgart: Thieme 10.1055/s-2007-973852
Utsch, Boris; McCabe, Colleen D; Galbraith, Kenneth; Gonzalez, Ricardo; Born, Mark; Dötsch, Jörg; Ludwig, Michael; Reutter, Heiko; Innis, Jeffrey W (2007). Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome. American journal of medical genetics. Part A, 143A(24), pp. 3161-8. Hoboken, N.J.: Wiley-Liss 10.1002/ajmg.a.31967
Helou, Juliana; Otto, Edgar A; Attanasio, Massimo; Allen, Susan J; Parisi, Melissa A; Glass, Ian; Utsch, Boris; Hashmi, Seema; Fazzi, Elisa; Omran, Heymut; O'Toole, John F; Sayer, John A; Hildebrandt, Friedhelm (2007). Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. Journal of medical genetics, 44(10), pp. 657-63. London: BMJ Publishing Group 10.1136/jmg.2007.052027
