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S Mundlos

Showing results (51-60 of 94) with videos related to

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Journal of Medical Genetics|December 24, 2005
Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17pS Türkmen, O Demirhan, K Hoffmann, et al.
Folia Biologica|May 25, 2010
Impairment of Sox9 expression in limb buds of rats homozygous for hypodactyly mutationF Liska, P Snajdr, S Stricker, et al.
American Journal of Medical Genetics. Part A|March 19, 2008
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from OmanAnna Rajab, U Kornak, B S Budde, et al.
Archives of Dermatological Research|January 1, 1994
Ehlers-Danlos syndrome type VII: phenotype and genotypeH W Lehmann, S Mundlos, A Winterpacht, et al.
Journal of Medical Genetics|June 1, 1996
Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneityR S Ramesar, J Greenberg, R Martin, et al.
Development (Cambridge, England)|November 1, 1992
PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumorsA Poleev, H Fickenscher, S Mundlos, et al.
The Journal of Biological Chemistry|August 30, 1996
Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrixS Mundlos, D Chan, Y M Weng, et al.
Clinical Genetics|July 12, 2008
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4E Steichen-Gersdorf, I Gassner, A Superti-Furga, et al.
Genetic Counseling (Geneva, Switzerland)|February 26, 2013
EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case reportM Okur, R Eroz, S Mundlos, et al.
Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists|May 15, 2016
Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approachE M Olech, T Zemojtel, A Sowińska-Seidler, et al.
Pageof 10

Showing results (51-60 of 94) with videos related to

Sort By:
Pageof 10
Journal of Medical Genetics|December 24, 2005
Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17pS Türkmen, O Demirhan, K Hoffmann, et al.
Folia Biologica|May 25, 2010
Impairment of Sox9 expression in limb buds of rats homozygous for hypodactyly mutationF Liska, P Snajdr, S Stricker, et al.
American Journal of Medical Genetics. Part A|March 19, 2008
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from OmanAnna Rajab, U Kornak, B S Budde, et al.
Archives of Dermatological Research|January 1, 1994
Ehlers-Danlos syndrome type VII: phenotype and genotypeH W Lehmann, S Mundlos, A Winterpacht, et al.
Journal of Medical Genetics|June 1, 1996
Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneityR S Ramesar, J Greenberg, R Martin, et al.
Development (Cambridge, England)|November 1, 1992
PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumorsA Poleev, H Fickenscher, S Mundlos, et al.
The Journal of Biological Chemistry|August 30, 1996
Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrixS Mundlos, D Chan, Y M Weng, et al.
Clinical Genetics|July 12, 2008
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4E Steichen-Gersdorf, I Gassner, A Superti-Furga, et al.
Genetic Counseling (Geneva, Switzerland)|February 26, 2013
EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case reportM Okur, R Eroz, S Mundlos, et al.
Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists|May 15, 2016
Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approachE M Olech, T Zemojtel, A Sowińska-Seidler, et al.
Pageof 10