Kirkpatrick SJ - Search Results

1

Neonatal death in cousins with trisomy 10q and monosomy 4p due to a familial translocation.

Pauli RM, Kirkpatrick SJ, Meisner LF, Mijanovich JR, Spritz RA. Pauli RM, et al. Among authors: kirkpatrick sj. Clin Genet. 1982 Dec;22(6):340-7. doi: 10.1111/j.1399-0004.1982.tb01850.x. Clin Genet. 1982. PMID: 7160105

2

Frontonasal malformation and deletion of 22q11.

Kirkpatrick SJ, Pauli RM. Kirkpatrick SJ, et al. Am J Med Genet. 1998 Feb 3;75(4):443-4. Am J Med Genet. 1998. PMID: 9482658 No abstract available.

3

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: kirkpatrick sj. Am J Hum Genet. 1999 Feb;64(2):435-45. doi: 10.1086/302238. Am J Hum Genet. 1999. PMID: 9973281 Free PMC article.

4

Wisconsin Stillbirth Service Program: I. Establishment and assessment of a community-based program for etiologic investigation of intrauterine deaths.

Pauli RM, Reiser CA, Lebovitz RM, Kirkpatrick SJ. Pauli RM, et al. Among authors: kirkpatrick sj. Am J Med Genet. 1994 Apr 1;50(2):116-34. doi: 10.1002/ajmg.1320500204. Am J Med Genet. 1994. PMID: 8010345 Review.

5

Optic atrophy, hearing loss, and peripheral neuropathy.

Hagemoser K, Weinstein J, Bresnick G, Nellis R, Kirkpatrick S, Pauli RM. Hagemoser K, et al. Am J Med Genet. 1989 May;33(1):61-5. doi: 10.1002/ajmg.1320330108. Am J Med Genet. 1989. PMID: 2665489 Review.

6

Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care.

Greer KJ, Kirkpatrick SJ, Weksberg R, Pauli RM. Greer KJ, et al. Among authors: kirkpatrick sj. Am J Med Genet A. 2008 Jul 1;146A(13):1707-12. doi: 10.1002/ajmg.a.32332. Am J Med Genet A. 2008. PMID: 18546283 Review.

7

Further evidence that arthrogryposis multiplex congenita in the human sometimes is caused by an intrauterine vascular accident.

Robertson WL, Glinski LP, Kirkpatrick SJ, Pauli RM. Robertson WL, et al. Among authors: kirkpatrick sj. Teratology. 1992 Apr;45(4):345-51. doi: 10.1002/tera.1420450405. Teratology. 1992. PMID: 1533956

8

Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region.

Jabs EW, Coss CA, Hayflick SJ, Whitmore TE, Pauli RM, Kirkpatrick SJ, Meyers DA, Goldberg R, Day DW, Rosenbaum KN. Jabs EW, et al. Among authors: kirkpatrick sj. Genomics. 1991 Sep;11(1):188-92. doi: 10.1016/0888-7543(91)90117-w. Genomics. 1991. PMID: 1684950 Free article.

9

Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.

Schimmenti LA, Shim HH, Wirtschafter JD, Panzarino VA, Kashtan CE, Kirkpatrick SJ, Wargowski DS, France TD, Michel E, Dobyns WB. Schimmenti LA, et al. Among authors: kirkpatrick sj. Hum Mutat. 1999;14(5):369-76. doi: 10.1002/(SICI)1098-1004(199911)14:5<369::AID-HUMU2>3.0.CO;2-E. Hum Mutat. 1999. PMID: 10533062

10

Structural variation of chromosomes in autism spectrum disorder.

Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicolson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW. Marshall CR, et al. Am J Hum Genet. 2008 Feb;82(2):477-88. doi: 10.1016/j.ajhg.2007.12.009. Epub 2008 Jan 17. Am J Hum Genet. 2008. PMID: 18252227 Free PMC article.

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