Weksberg R - Search Results

1

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

Fauth C, Steindl K, Toutain A, Farrell S, Witsch-Baumgartner M, Karall D, Joset P, Böhm S, Baumer A, Maier O, Zschocke J, Weksberg R, Marshall CR, Rauch A. Fauth C, et al. Among authors: weksberg r. Am J Med Genet A. 2016 Feb;170A(2):392-402. doi: 10.1002/ajmg.a.37452. Epub 2015 Nov 6. Am J Med Genet A. 2016. PMID: 26545172

2

Velo-cardio-facial syndrome and psychotic disorders: implications for psychiatric genetics.

Chow EW, Bassett AS, Weksberg R. Chow EW, et al. Among authors: weksberg r. Am J Med Genet. 1994 Jun 15;54(2):107-12. doi: 10.1002/ajmg.1320540205. Am J Med Genet. 1994. PMID: 8074160 Free PMC article.

3

Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis.

Terespolsky D, Farrell SA, Siegel-Bartelt J, Weksberg R. Terespolsky D, et al. Among authors: weksberg r. Am J Med Genet. 1995 Nov 20;59(3):329-33. doi: 10.1002/ajmg.1320590310. Am J Med Genet. 1995. PMID: 8599356

4

MRI findings in macrocephaly-cutis marmorata telangiectatica congenita.

Carcao M, Blaser SI, Grant RM, Weksberg R, Siegel-Bartelt J. Carcao M, et al. Among authors: weksberg r. Am J Med Genet. 1998 Mar 5;76(2):165-7. Am J Med Genet. 1998. PMID: 9511980

5

22q11 deletion syndrome in adults with schizophrenia.

Bassett AS, Hodgkinson K, Chow EW, Correia S, Scutt LE, Weksberg R. Bassett AS, et al. Among authors: weksberg r. Am J Med Genet. 1998 Jul 10;81(4):328-37. Am J Med Genet. 1998. PMID: 9674980 Free PMC article.

6

Cardiac anomalies in the Simpson-Golabi-Behmel syndrome.

Lin AE, Neri G, Hughes-Benzie R, Weksberg R. Lin AE, et al. Among authors: weksberg r. Am J Med Genet. 1999 Apr 23;83(5):378-81. Am J Med Genet. 1999. PMID: 10232747 Review.

7

Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome.

Brzustowicz LM, Farrell S, Khan MB, Weksberg R. Brzustowicz LM, et al. Among authors: weksberg r. Am J Hum Genet. 1999 Sep;65(3):779-83. doi: 10.1086/302527. Am J Hum Genet. 1999. PMID: 10441586 Free PMC article.

8

Phenotype of adults with the 22q11 deletion syndrome: A review.

Cohen E, Chow EW, Weksberg R, Bassett AS. Cohen E, et al. Among authors: weksberg r. Am J Med Genet. 1999 Oct 8;86(4):359-65. doi: 10.1002/(sici)1096-8628(19991008)86:4<359::aid-ajmg10>3.0.co;2-v. Am J Med Genet. 1999. PMID: 10494092 Free PMC article. Review.

9

GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.

Li M, Shuman C, Fei YL, Cutiongco E, Bender HA, Stevens C, Wilkins-Haug L, Day-Salvatore D, Yong SL, Geraghty MT, Squire J, Weksberg R. Li M, et al. Among authors: weksberg r. Am J Med Genet. 2001 Aug 1;102(2):161-8. doi: 10.1002/1096-8628(20010801)102:2<161::aid-ajmg1453>3.0.co;2-o. Am J Med Genet. 2001. PMID: 11477610

10

Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith syndrome.

Barr CL, Best L, Weksberg R. Barr CL, et al. Among authors: weksberg r. Am J Med Genet. 2001 Nov 22;104(2):120-6. doi: 10.1002/ajmg.1587. Am J Med Genet. 2001. PMID: 11746041

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