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Showing results (21-30 of 29) with videos related to

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American Journal of Human Genetics|August 1, 1995
Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational familiesJ Stein, J B Mulliken, S Stal, et al.
Neurology|August 22, 2008
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre typeL Van Maldergem, M Yuksel-Apak, H Kayserili, et al.
The Journal of Biological Chemistry|April 16, 1998
Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchangerP Jarolim, C Shayakul, D Prabakaran, et al.
Current Biology : CB|July 13, 2001
Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunitV Ranganathan, W F Heine, D N Ciccone, et al.
American Journal of Human Genetics|February 11, 1999
Molecular analysis of SALL1 mutations in Townes-Brocks syndromeJ Kohlhase, P E Taschner, P Burfeind, et al.
Clinical Genetics|November 29, 2007
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndromeA L Schulz, B Albrecht, C Arici, et al.
Journal of Medical Genetics|October 30, 2007
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populationsM Witsch-Baumgartner, I Schwentner, M Gruber, et al.
Journal of Medical Genetics|October 4, 2002
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophyL Van Maldergem, J Magré, T E Khallouf, et al.
Nature Genetics|August 2, 2001
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13J Magré, M Delépine, E Khallouf, et al.
Pageof 3

Showing results (21-30 of 29) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 29 results.
American Journal of Human Genetics|August 1, 1995
Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational familiesJ Stein, J B Mulliken, S Stal, et al.
Neurology|August 22, 2008
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre typeL Van Maldergem, M Yuksel-Apak, H Kayserili, et al.
The Journal of Biological Chemistry|April 16, 1998
Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchangerP Jarolim, C Shayakul, D Prabakaran, et al.
Current Biology : CB|July 13, 2001
Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunitV Ranganathan, W F Heine, D N Ciccone, et al.
American Journal of Human Genetics|February 11, 1999
Molecular analysis of SALL1 mutations in Townes-Brocks syndromeJ Kohlhase, P E Taschner, P Burfeind, et al.
Clinical Genetics|November 29, 2007
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndromeA L Schulz, B Albrecht, C Arici, et al.
Journal of Medical Genetics|October 30, 2007
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populationsM Witsch-Baumgartner, I Schwentner, M Gruber, et al.
Journal of Medical Genetics|October 4, 2002
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophyL Van Maldergem, J Magré, T E Khallouf, et al.
Nature Genetics|August 2, 2001
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13J Magré, M Delépine, E Khallouf, et al.
Pageof 3