Stalker HJ - Search Results

1

NF1 mutation analysis using a combined heteroduplex/SSCP approach.

Abernathy CR, Rasmussen SA, Stalker HJ, Zori R, Driscoll DJ, Williams CA, Kousseff BG, Wallace MR. Abernathy CR, et al. Among authors: stalker hj. Hum Mutat. 1997;9(6):548-54. doi: 10.1002/(SICI)1098-1004(1997)9:6<548::AID-HUMU8>3.0.CO;2-Y. Hum Mutat. 1997. PMID: 9195229

2

Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.

Krkljus S, Abernathy CR, Johnson JS, Williams CA, Driscoll DJ, Zori R, Stalker HJ, Rasmussen SA, Collins FS, Kousseff BG, Baumbach L, Wallace MR. Krkljus S, et al. Among authors: stalker hj. Hum Mutat. 1998;11(5):411. doi: 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU11>3.0.CO;2-2. Hum Mutat. 1998. PMID: 10336779

3

Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.

Hill-Harfe KL, Kaplan L, Stalker HJ, Zori RT, Pop R, Scherer G, Wallace MR. Hill-Harfe KL, et al. Among authors: stalker hj. Am J Hum Genet. 2005 Apr;76(4):663-71. doi: 10.1086/429254. Am J Hum Genet. 2005. PMID: 15717285 Free PMC article.

4

Genetic counseling in Angelman syndrome: the challenges of multiple causes.

Stalker HJ, Williams CA. Stalker HJ, et al. Am J Med Genet. 1998 Apr 28;77(1):54-9. Am J Med Genet. 1998. PMID: 9557895 Review.

5

Angelman syndrome.

Williams CA, Zori RT, Hendrickson J, Stalker H, Marum T, Whidden E, Driscoll DJ. Williams CA, et al. Curr Probl Pediatr. 1995 Aug;25(7):216-31. doi: 10.1016/s0045-9380(06)80036-8. Curr Probl Pediatr. 1995. PMID: 8521718 Review. No abstract available.

6

Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: a form of arterial dysplasia.

Kumar A, Stalker HJ, Williams CA. Kumar A, et al. Among authors: stalker hj. Am J Med Genet. 1993 Mar 15;45(6):739-42. doi: 10.1002/ajmg.1320450614. Am J Med Genet. 1993. PMID: 8456853 Review.

7

Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication?

Rasmussen SA, Williams CA, Ayoub EM, Sleasman JW, Gray BA, Bent-Williams A, Stalker HJ, Zori RT. Rasmussen SA, et al. Among authors: stalker hj. Am J Med Genet. 1996 Sep 6;64(4):546-50. doi: 10.1002/(SICI)1096-8628(19960906)64:4<546::AID-AJMG4>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8870920

8

Variable expression of rib, pectus, and scapular anomalies with Robin-type cleft palate in a 5-generation family: a new syndrome?

Stalker HJ, Zori RT. Stalker HJ, et al. Am J Med Genet. 1997 Dec 19;73(3):247-50. Am J Med Genet. 1997. PMID: 9415678

9

Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency.

Zori RT, Boyar FZ, Williams WN, Gray BA, Bent-Williams A, Stalker HJ, Rimer LA, Nackashi JA, Driscoll DJ, Rasmussen SA, Dixon-Wood V, Williams CA. Zori RT, et al. Among authors: stalker hj. Am J Med Genet. 1998 Apr 28;77(1):8-11. Am J Med Genet. 1998. PMID: 9557885

10

Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy.

Zhang J, Kumar A, Stalker HJ, Virdi G, Ferrans VJ, Horiba K, Fricker FJ, Wallace MR. Zhang J, et al. Among authors: stalker hj. Clin Genet. 2001 Apr;59(4):248-56. doi: 10.1034/j.1399-0004.2001.590406.x. Clin Genet. 2001. PMID: 11298680

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