S. Kirkpatrick

发表

Structural variation of chromosomes in autism spectrum disorder.

D. Pinto, L. Feuk, S. Scherer, 2008, American journal of human genetics.

Frontonasal malformation and deletion of 22q11.

R. Pauli, S. Kirkpatrick, 1998, American journal of medical genetics.

Localization of a non-specific X-linked mental retardation gene, MRX23, to Xq23-q24.

R. Gregg, S. Kirkpatrick, C. Palmer, 1996, Human molecular genetics.

Beckwith‐Wiedemann syndrome in adults: Observations from one family and recommendations for care

R. Weksberg, R. Pauli, S. Kirkpatrick, 2008, American journal of medical genetics. Part A.

Imprinted Gene for Familial Nonchromaffin

M. James, G. Evans, W. Rubinstein, 2006 .

WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH

S. Cheung, D. Scott, S. Kirkpatrick, 2006, American journal of medical genetics. Part A.

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

R. Pauli, S. Kirkpatrick, R. Lebovitz, 1994, American journal of medical genetics.

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.

E. Jabs, D. Meyers, R. Pauli, 1991, Genomics.

The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future

L. Shaffer, B. Ballif, J. Coppinger, 2007, American journal of medical genetics. Part C, Seminars in medical genetics.

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

W. Reardon, K. Devriendt, O. Gabrielli, 1999, American journal of human genetics.

Human Chromosome 7: DNA Sequence and Biology

Junjun Zhang, Nazneen Rahman, Alexander K. Hudek, 2003, Science.

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

R. Pauli, L. Meisner, S. Kirkpatrick, 1982, Clinical genetics.

Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23.

M. James, G. Evans, W. Rubinstein, 1997, American journal of human genetics.

Optic atrophy, hearing loss, and peripheral neuropathy.

G. Bresnick, R. Pauli, J. Weinstein, 1989, American journal of medical genetics.

Dubowitz syndrome: long-term follow-up of an original patient.

R. Laxová, K. Hansen, S. Kirkpatrick, 1995, American journal of medical genetics.

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

W. L. Robertson, R. Pauli, S. Kirkpatrick, 1992, Teratology.

Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of Renal‐Coloboma syndrome

W. Dobyns, L. Schimmenti, S. Kirkpatrick, 1999, Human mutation.

Waardenburg syndrome type I in a child with deletion (2) (q35q36.2)

R. Laxová, S. Kirkpatrick, G. Sekhon, 1992, American journal of medical genetics.