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Showing results (81-90 of 93) with videos related to

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Nature Genetics|June 3, 2000
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determinationK W Gripp, D Wotton, M C Edwards, et al.
Nature Genetics|December 30, 1999
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type IP Momeni, G Glöckner, O Schmidt, et al.
American Journal of Medical Genetics|March 13, 1995
Further delineation of the branchio-oculo-facial syndromeA E Lin, R J Gorlin, I W Lurie, et al.
American Journal of Human Genetics|April 1, 1996
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11O Bartsch, W Wuyts, W Van Hul, et al.
Clinical Dysmorphology|October 1, 1993
The Peters'-Plus syndrome: description of 16 patients and review of the literatureR C Hennekam, M J Van Schooneveld, H H Ardinger, et al.
European Journal of Human Genetics : EJHG|November 1, 2007
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylationE Morava, D J Lefeber, Z Urban, et al.
Human Molecular Genetics|November 11, 1999
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephalyL Nanni, J E Ming, M Bocian, et al.
Journal of Medical Genetics|May 2, 2006
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndromeW Seifert, M Holder-Espinasse, S Spranger, et al.
Human Molecular Genetics|August 11, 1999
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndromeM Kalff-Suske, A Wild, J Topp, 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.
Pageof 10

Showing results (81-90 of 93) with videos related to

Sort By:
Pageof 10
Nature Genetics|June 3, 2000
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determinationK W Gripp, D Wotton, M C Edwards, et al.
Nature Genetics|December 30, 1999
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type IP Momeni, G Glöckner, O Schmidt, et al.
American Journal of Medical Genetics|March 13, 1995
Further delineation of the branchio-oculo-facial syndromeA E Lin, R J Gorlin, I W Lurie, et al.
American Journal of Human Genetics|April 1, 1996
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11O Bartsch, W Wuyts, W Van Hul, et al.
Clinical Dysmorphology|October 1, 1993
The Peters'-Plus syndrome: description of 16 patients and review of the literatureR C Hennekam, M J Van Schooneveld, H H Ardinger, et al.
European Journal of Human Genetics : EJHG|November 1, 2007
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylationE Morava, D J Lefeber, Z Urban, et al.
Human Molecular Genetics|November 11, 1999
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephalyL Nanni, J E Ming, M Bocian, et al.
Journal of Medical Genetics|May 2, 2006
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndromeW Seifert, M Holder-Espinasse, S Spranger, et al.
Human Molecular Genetics|August 11, 1999
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndromeM Kalff-Suske, A Wild, J Topp, 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.
Pageof 10