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S Schuffenhauer

Showing results (11-20 of 45) with videos related to

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Clinical Genetics|November 1, 1992
De novo interstitial deletion 16(q12.1q13) of paternal origin in a 10-year-old boyS Schuffenhauer, D F Callen, H Seidel, et al.
Journal of Medical Genetics|April 16, 1999
De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findingsS Schuffenhauer, H J Leifheit, P Lichtner, et al.
American Journal of Medical Genetics|May 8, 1999
No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585O Bartsch, A Wagner, G K Hinkel, et al.
Journal of Medical Genetics|February 24, 2001
Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetryH Schmidt, S Uhrig, G Lederer, et al.
Human Mutation|January 1, 1996
A familial deletion in the Prader-Willi syndrome region including the imprinting control regionS Schuffenhauer, T Buchholz, S Stengel-Rutkowski, et al.
Der Internist|June 4, 1999
[29-year-old patient with gynecomastia and small testis]S Brand, T M Strom, M M Weber, et al.
Annales De Genetique|January 1, 1995
DiGeorge syndrome and partial monosomy 10p: case report and reviewS Schuffenhauer, H Seidel, H Oechsler, et al.
Journal of Medical Genetics|August 1, 1997
Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis familyA Golla, P Lichmer, S von Gernet, et al.
The European Journal of Neuroscience|March 28, 1998
Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptorsB Wissinger, F Müller, I Weyand, et al.
American Journal of Medical Genetics|October 2, 1996
Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cenS Schuffenhauer, A Kobelt, C Daumer-Haas, et al.
Pageof 5

Showing results (11-20 of 45) with videos related to

Sort By:
Pageof 5
Clinical Genetics|November 1, 1992
De novo interstitial deletion 16(q12.1q13) of paternal origin in a 10-year-old boyS Schuffenhauer, D F Callen, H Seidel, et al.
Journal of Medical Genetics|April 16, 1999
De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findingsS Schuffenhauer, H J Leifheit, P Lichtner, et al.
American Journal of Medical Genetics|May 8, 1999
No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585O Bartsch, A Wagner, G K Hinkel, et al.
Journal of Medical Genetics|February 24, 2001
Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetryH Schmidt, S Uhrig, G Lederer, et al.
Human Mutation|January 1, 1996
A familial deletion in the Prader-Willi syndrome region including the imprinting control regionS Schuffenhauer, T Buchholz, S Stengel-Rutkowski, et al.
Der Internist|June 4, 1999
[29-year-old patient with gynecomastia and small testis]S Brand, T M Strom, M M Weber, et al.
Annales De Genetique|January 1, 1995
DiGeorge syndrome and partial monosomy 10p: case report and reviewS Schuffenhauer, H Seidel, H Oechsler, et al.
Journal of Medical Genetics|August 1, 1997
Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis familyA Golla, P Lichmer, S von Gernet, et al.
The European Journal of Neuroscience|March 28, 1998
Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptorsB Wissinger, F Müller, I Weyand, et al.
American Journal of Medical Genetics|October 2, 1996
Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cenS Schuffenhauer, A Kobelt, C Daumer-Haas, et al.
Pageof 5