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Page 1
Autosomal dominant hypohidrotic ectodermal dysplasia in a large family.
Aswegan AL, Josephson KD, Mowbray R, Pauli RM, Spritz RA, Williams MS. Aswegan AL, et al. Among authors: pauli rm. Am J Med Genet. 1997 Nov 12;72(4):462-7. doi: 10.1002/(sici)1096-8628(19971112)72:4<462::aid-ajmg17>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9375732
Filippi syndrome: report of three additional cases.
Williams MS, Williams JL, Wargowski DS, Pauli RM, Pletcher BA. Williams MS, et al. Among authors: pauli rm. Am J Med Genet. 1999 Nov 19;87(2):128-33. Am J Med Genet. 1999. PMID: 10533026 Review.
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.
Rosenberg MJ, Killoran C, Dziadzio L, Chang S, Stone DL, Meck J, Aughton D, Bird LM, Bodurtha J, Cassidy SB, Graham JM Jr, Grix A, Guttmacher AE, Hudgins L, Kozma C, Michaelis RC, Pauli R, Peters KF, Rosenbaum KN, Tifft CJ, Wargowski D, Williams MS, Biesecker LG. Rosenberg MJ, et al. Hum Genet. 2001 Sep;109(3):311-8. doi: 10.1007/s004390100559. Hum Genet. 2001. PMID: 11702212
Toriello-Carey syndrome: delineation and review.
Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E. Toriello HV, et al. Am J Med Genet A. 2003 Nov 15;123A(1):84-90. doi: 10.1002/ajmg.a.20493. Am J Med Genet A. 2003. PMID: 14556252 Review.
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT; Baylor-Hopkins Center for Mendelian Genomics; Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM. Lee CS, et al. Am J Hum Genet. 2017 Nov 2;101(5):815-823. doi: 10.1016/j.ajhg.2017.09.019. Am J Hum Genet. 2017. PMID: 29100092 Free PMC article.
168 results