Goodman BK - Search Results

1

Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome.

Goodman BK, Rutberg J, Lin WW, Pulver AE, Thomas GH. Goodman BK, et al. J Inherit Metab Dis. 2000 Dec;23(8):847-8. doi: 10.1023/a:1026773005303. J Inherit Metab Dis. 2000. PMID: 11196113 No abstract available.

2

Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome.

Cargile CB, Goh DL, Goodman BK, Chen XN, Korenberg JR, Semenza GL, Thomas GH. Cargile CB, et al. Among authors: goodman bk. Am J Med Genet. 2002 Apr 22;109(2):133-8. doi: 10.1002/ajmg.10323. Am J Med Genet. 2002. PMID: 11977162

3

Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome.

Sigurdardottir S, Goodman BK, Rutberg J, Thomas GH, Jabs EW, Geraghty MT. Sigurdardottir S, et al. Among authors: goodman bk. Am J Med Genet. 1999 Dec 22;87(5):384-90. doi: 10.1002/(sici)1096-8628(19991222)87:5<384::aid-ajmg3>3.0.co;2-r. Am J Med Genet. 1999. PMID: 10594875

4

Cryptic subtelomeric translocations in the 22q13 deletion syndrome.

Praphanphoj V, Goodman BK, Thomas GH, Raymond GV. Praphanphoj V, et al. Among authors: goodman bk. J Med Genet. 2000 Jan;37(1):58-61. doi: 10.1136/jmg.37.1.58. J Med Genet. 2000. PMID: 10633138 Free PMC article.

5

Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12).

Cargile CB, McIntosh I, Clough MV, Rutberg J, Yaghmai R, Goodman BK, Chen XN, Korenberg JR, Thomas GH, Geraghty MT. Cargile CB, et al. Among authors: goodman bk. Am J Med Genet. 2000 Jun 19;92(5):328-35. doi: 10.1002/1096-8628(20000619)92:5<328::aid-ajmg7>3.0.co;2-p. Am J Med Genet. 2000. PMID: 10861662

6

Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect.

Goodman BK, Capone GT, Hennessey J, Thomas GH. Goodman BK, et al. Am J Med Genet. 1997 Dec 12;73(2):119-24. doi: 10.1002/(sici)1096-8628(19971212)73:2<119::aid-ajmg3>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9409859

7

Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).

Praphanphoj V, Goodman BK, Thomas GH, Niel KM, Toomes C, Dixon MJ, Geraghty MT. Praphanphoj V, et al. Among authors: goodman bk. Genomics. 2000 Apr 1;65(1):67-9. doi: 10.1006/geno.2000.6157. Genomics. 2000. PMID: 10777667 Free article.

8

Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families.

Goodman BK, Shaffer LG, Rutberg J, Leppert M, Harum K, Gagos S, Ray JH, Bialer MG, Zhou X, Pletcher BA, Shapira SK, Geraghty MT. Goodman BK, et al. Am J Med Genet. 1998 Dec 4;80(4):377-84. doi: 10.1002/(sici)1096-8628(19981204)80:4<377::aid-ajmg14>3.0.co;2-7. Am J Med Genet. 1998. PMID: 9856567

9

Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.

Arch EM, Goodman BK, Van Wesep RA, Liaw D, Clarke K, Parsons R, McKusick VA, Geraghty MT. Arch EM, et al. Among authors: goodman bk. Am J Med Genet. 1997 Sep 5;71(4):489-93. Am J Med Genet. 1997. PMID: 9286463

10

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.

Camacho JA, Obie C, Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D. Camacho JA, et al. Among authors: goodman bk. Nat Genet. 1999 Jun;22(2):151-8. doi: 10.1038/9658. Nat Genet. 1999. PMID: 10369256

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

52 results

Search Page

Filters