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Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. Online.
Wang Q, Verhoef S, Tempelaars AM, Bakker PL, Vrtel R, Hesseling-Janssen AL, Nellist M, Oranje AP, Stroink H, Lindhout D, Halley DJ, van den Ouweland AM. Wang Q, et al. Among authors: oranje ap. Hum Mutat. 1998;11(4):331-2. doi: 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3. Hum Mutat. 1998. PMID: 10215407
Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations.
Breuning MH, Oranje AP, Langemeijer RA, Hovius SE, Diepstraten AF, den Hollander JC, Baumgartner N, Dwek JR, Sommer A, Toriello H. Breuning MH, et al. Among authors: oranje ap. Am J Med Genet. 2000 Sep 11;94(2):91-101. doi: 10.1002/1096-8628(20000911)94:2<91::aid-ajmg1>3.0.co;2-d. Am J Med Genet. 2000. PMID: 10982965
X-linked ichthyosis and congenital abdominal wall defects.
Bousema MT, Oranje AP, van Diggelen OP. Bousema MT, et al. Among authors: oranje ap. Int J Dermatol. 1991 Jan;30(1):53. doi: 10.1111/j.1365-4362.1991.tb05882.x. Int J Dermatol. 1991. PMID: 1825203 No abstract available.
251 results