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1. Miller, RI; Stephan, MJ; Hume, RF; Walker, WO; Kelly, P; Calhoun, BC; Hoeldtke, NJ; Hayden, JE; Martin, LS
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   R.I. Miller et al., "Extreme elevation of maternal serum alpha-fetoprotein associated with mosaic trisomy 8 in a liveborn", FETAL DIAGN, 16(2), 2001, pp. 120-122
2. Frizzley, JK; Stephan, MJ; Lamb, AN; Jonas, PP; Hinson, RM; Moffitt, DR; Shkolny, DL; McDermid, HE
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   J.K. Frizzley et al., "Ring 22 duplication/deletion mosaicism: clinical, cytogenetic, and molecular characterisation", J MED GENET, 36(3), 1999, pp. 237-241
3. ANDERSON AJ; STEPHAN MJ; WALKER WO; KELLEY RI
   VARIANT RSH SMITH-LEMLI-OPITZ-SYNDROME WITH ATYPICAL STEROL-METABOLISM/
   American journal of medical genetics
   
   A.J. Anderson et al., "VARIANT RSH SMITH-LEMLI-OPITZ-SYNDROME WITH ATYPICAL STEROL-METABOLISM/", American journal of medical genetics, 78(5), 1998, pp. 413-418
4. NELSON ML; RAYMOND WR; WROBLEWSKI KJ; CHUN BB; STEPHAN MJ
   OCULAR FINDINGS IN ROBINOW (FETAL FACE) SYNDROME
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   M.L. Nelson et al., "OCULAR FINDINGS IN ROBINOW (FETAL FACE) SYNDROME", Investigative ophthalmology & visual science, 38(4), 1997, pp. 2723-2723
5. STEPHAN MJ; BROOKS KL; MOORE DC; COLL EJ; GOHO C
   HYPOTHALAMIC HAMARTOMA IN ORAL-FACIAL-DIGITAL SYNDROME TYPE-VI (VARADI-SYNDROME)
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   M.J. Stephan et al., "HYPOTHALAMIC HAMARTOMA IN ORAL-FACIAL-DIGITAL SYNDROME TYPE-VI (VARADI-SYNDROME)", American journal of medical genetics, 51(2), 1994, pp. 131-136
6. VANDERHOOFT SL; STEPHAN MJ; SYBERT VP
   SEVERE SKIN EROSIONS AND SCALP INFECTIONS IN AEC SYNDROME
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   S.L. Vanderhooft et al., "SEVERE SKIN EROSIONS AND SCALP INFECTIONS IN AEC SYNDROME", Pediatric dermatology, 10(4), 1993, pp. 334-340