Salafsky I - Search Results

1

Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes.

Court F, Martin-Trujillo A, Romanelli V, Garin I, Iglesias-Platas I, Salafsky I, Guitart M, Perez de Nanclares G, Lapunzina P, Monk D. Court F, et al. Among authors: salafsky i. Hum Mutat. 2013 Apr;34(4):595-602. doi: 10.1002/humu.22276. Epub 2013 Feb 19. Hum Mutat. 2013. PMID: 23335487

2

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.

Morava E, Lefeber DJ, Urban Z, de Meirleir L, Meinecke P, Gillessen Kaesbach G, Sykut-Cegielska J, Adamowicz M, Salafsky I, Ranells J, Lemyre E, van Reeuwijk J, Brunner HG, Wevers RA. Morava E, et al. Among authors: salafsky i. Eur J Hum Genet. 2008 Jan;16(1):28-35. doi: 10.1038/sj.ejhg.5201947. Epub 2007 Oct 31. Eur J Hum Genet. 2008. PMID: 17971833

3

Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20.

Salafsky IS, MacGregor SN, Claussen U, von Eggeling F. Salafsky IS, et al. Prenat Diagn. 2001 Oct;21(10):860-3. doi: 10.1002/pd.158. Prenat Diagn. 2001. PMID: 11746130

4

Clinical implications of atypical chromosome abnormalities diagnosed prenatally.

Silver RK, Blum K, Geibel LJ, Beaird JA, Salafsky I, MacGregor SN. Silver RK, et al. Among authors: salafsky i. Obstet Gynecol. 1999 Dec;94(6):925-8. doi: 10.1016/s0029-7844(99)00475-5. Obstet Gynecol. 1999. PMID: 10576177

5

American College of Medical Genetics statement on folic acid: fortification and supplementation.

Crandall BF, Corson VL, Evans MI, Goldberg JD, Knight G, Salafsky IS. Crandall BF, et al. Among authors: salafsky is. Am J Med Genet. 1998 Jul 24;78(4):381. Am J Med Genet. 1998. PMID: 9714444 No abstract available.

6

Folic acid and pregnancy.

Crandall BF, Corson VL, Goldberg JD, Knight G, Salafsky IS. Crandall BF, et al. Among authors: salafsky is. Am J Med Genet. 1995 Jan 2;55(1):134-5. doi: 10.1002/ajmg.1320550133. Am J Med Genet. 1995. PMID: 7702087 No abstract available.

7

Deletion of band 5q21 in association with a de novo translocation involving 2p and 5q.

Yung JF, Williamson N, Salafsky I, Hoo JJ. Yung JF, et al. Among authors: salafsky i. J Med Genet. 1988 Aug;25(8):570-2. doi: 10.1136/jmg.25.8.570. J Med Genet. 1988. PMID: 2459386 Free PMC article.

8

Computerized tomography and ultrasound in the diagnosis of cerebro-hepato-renal syndrome of Zellweger.

Weese-Mayer DE, Smith KM, Reddy JK, Salafsky I, Poznanski AK. Weese-Mayer DE, et al. Among authors: salafsky i. Pediatr Radiol. 1987;17(2):170-2. doi: 10.1007/BF02388104. Pediatr Radiol. 1987. PMID: 3550671

9

Dysplasia of the knee associated with the syndrome of thrombocytopenia and absent radius.

Schoenecker PL, Cohn AK, Sedgwick WG, Manske PR, Salafsky I, Millar EA. Schoenecker PL, et al. Among authors: salafsky i. J Bone Joint Surg Am. 1984 Mar;66(3):421-7. J Bone Joint Surg Am. 1984. PMID: 6699059

10

Fetal alcohol syndrome in dizygotic twins.

Christoffel KK, Salafsky I. Christoffel KK, et al. Among authors: salafsky i. J Pediatr. 1975 Dec;87(6 Pt 1):963-7. doi: 10.1016/s0022-3476(75)80919-x. J Pediatr. 1975. PMID: 1185405

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