Geiger D - Search Results

1

Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein.

Birnbaum RY, Zvulunov A, Hallel-Halevy D, Cagnano E, Finer G, Ofir R, Geiger D, Silberstein E, Feferman Y, Birk OS. Birnbaum RY, et al. Among authors: geiger d. Nat Genet. 2006 Jul;38(7):749-51. doi: 10.1038/ng1813. Epub 2006 Jun 4. Nat Genet. 2006. PMID: 16751772

2

Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13.

Narkis G, Landau D, Manor E, Elbedour K, Tzemach A, Fishelson M, Geiger D, Ofir R, Carmi R, Birk OS. Narkis G, et al. Among authors: geiger d. Am J Med Genet A. 2004 Oct 15;130A(3):272-6. doi: 10.1002/ajmg.a.30266. Am J Med Genet A. 2004. PMID: 15378541

3

Integration of SNP genotyping confidence scores in IBD inference.

Markus B, Birk OS, Geiger D. Markus B, et al. Among authors: geiger d. Bioinformatics. 2011 Oct 15;27(20):2880-7. doi: 10.1093/bioinformatics/btr486. Epub 2011 Aug 23. Bioinformatics. 2011. PMID: 21862568 Free PMC article.

4

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene.

Renbaum P, Kellerman E, Jaron R, Geiger D, Segel R, Lee M, King MC, Levy-Lahad E. Renbaum P, et al. Among authors: geiger d. Am J Hum Genet. 2009 Aug;85(2):281-9. doi: 10.1016/j.ajhg.2009.07.006. Epub 2009 Jul 30. Am J Hum Genet. 2009. PMID: 19646678 Free PMC article.

5

Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3-13.1.

Genzer-Nir M, Khayat M, Kogan L, Cohen HI, Hershkowitz M, Geiger D, Falik-Zaccai TC. Genzer-Nir M, et al. Among authors: geiger d. Eur J Hum Genet. 2010 Jun;18(6):662-7. doi: 10.1038/ejhg.2009.236. Epub 2010 Feb 10. Eur J Hum Genet. 2010. PMID: 20145678 Free PMC article.

6

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.

Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC. Zivony-Elboum Y, et al. Among authors: geiger d. J Med Genet. 2012 Jul;49(7):462-72. doi: 10.1136/jmedgenet-2012-100742. Epub 2012 Jun 20. J Med Genet. 2012. PMID: 22717650

7

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.

Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E. Lugassy J, et al. Among authors: geiger d. Am J Hum Genet. 2006 Oct;79(4):724-30. doi: 10.1086/507792. Epub 2006 Aug 25. Am J Hum Genet. 2006. PMID: 16960809 Free PMC article.

8

Familial steroid-sensitive nephrotic syndrome in Southern Israel: clinical and genetic observations.

Landau D, Oved T, Geiger D, Abizov L, Shalev H, Parvari R. Landau D, et al. Among authors: geiger d. Pediatr Nephrol. 2007 May;22(5):661-9. doi: 10.1007/s00467-006-0409-7. Epub 2007 Jan 12. Pediatr Nephrol. 2007. PMID: 17219184

9

Modeling haplotype block variation using Markov chains.

Greenspan G, Geiger D. Greenspan G, et al. Among authors: geiger d. Genetics. 2006 Apr;172(4):2583-99. doi: 10.1534/genetics.105.042978. Epub 2005 Dec 15. Genetics. 2006. PMID: 16361244 Free PMC article.

10

A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.

Topaz O, Indelman M, Chefetz I, Geiger D, Metzker A, Altschuler Y, Choder M, Bercovich D, Uitto J, Bergman R, Richard G, Sprecher E. Topaz O, et al. Among authors: geiger d. Am J Hum Genet. 2006 Oct;79(4):759-64. doi: 10.1086/508069. Epub 2006 Aug 24. Am J Hum Genet. 2006. PMID: 16960814 Free PMC article.

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