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Frontonasal malformation and deletion of 22q11.
Kirkpatrick SJ, Pauli RM. Kirkpatrick SJ, et al. Among authors: pauli rm. Am J Med Genet. 1998 Feb 3;75(4):443-4. Am J Med Genet. 1998. PMID: 9482658 No abstract available.
Pre- and postnatal findings in trisomy 17 mosaicism.
Utermann B, Riegel M, Leistritz D, Karall T, Wisser J, Meisner L, Fauth C, Baldinger R, Johnson J, Erdel M, Taralczak M, Pauli RM, Baumer A, Schinzel A, Kotzot D. Utermann B, et al. Among authors: pauli rm. Am J Med Genet A. 2006 Aug 1;140(15):1628-36. doi: 10.1002/ajmg.a.31319. Am J Med Genet A. 2006. PMID: 16802327
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
Kohlhase J, Taschner PE, Burfeind P, Pasche B, Newman B, Blanck C, Breuning MH, ten Kate LP, Maaswinkel-Mooy P, Mitulla B, Seidel J, Kirkpatrick SJ, Pauli RM, Wargowski DS, Devriendt K, Proesmans W, Gabrielli O, Coppa GV, Wesby-van Swaay E, Trembath RC, Schinzel AA, Reardon W, Seemanova E, Engel W. Kohlhase J, et al. Among authors: pauli rm. Am J Hum Genet. 1999 Feb;64(2):435-45. doi: 10.1086/302238. Am J Hum Genet. 1999. PMID: 9973281 Free PMC article.
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
Optic atrophy, hearing loss, and peripheral neuropathy.
Hagemoser K, Weinstein J, Bresnick G, Nellis R, Kirkpatrick S, Pauli RM. Hagemoser K, et al. Among authors: pauli rm. Am J Med Genet. 1989 May;33(1):61-5. doi: 10.1002/ajmg.1320330108. Am J Med Genet. 1989. PMID: 2665489 Review.
167 results