Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

B Zoll

Showing results (51-60 of 63) with videos related to

Pageof 7
Sort By:
American Journal of Medical Genetics. Part A|July 12, 2005
Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delayG von Beust, S M Sauter, T Liehr, et al.
Prenatal Diagnosis|March 1, 2006
Prenatal diagnosis of a large de novo terminal deletion of chromosome 11qD Boehm, F Laccone, P Burfeind, et al.
American Journal of Medical Genetics|March 1, 1992
Prenatal diagnosis of the Pallister-Killian mosaic aneuploidy syndrome by CVSJ Bernert, I Bartels, G Gatz, et al.
Cytogenetic and Genome Research|February 14, 2003
A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosisR Trappe, D Böhm, J Kohlhase, et al.
Journal of Medical Genetics|May 15, 2003
Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndromeM Meins, P Burfeind, S Motsch, et al.
American Journal of Medical Genetics. Part A|April 23, 2004
First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndromeM Meins, D Böhm, A Großmann, et al.
Science (New York, N.Y.)|August 7, 1992
The skeletal muscle chloride channel in dominant and recessive human myotoniaM C Koch, K Steinmeyer, C Lorenz, et al.
Journal of Medical Genetics|September 1, 1991
Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17M C Koch, K Ricker, M Otto, et al.
Human Genetics|December 1, 1990
The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII geneD S Millar, R A Steinbrecher, K Wieland, et al.
Human Genetics|November 1, 1991
Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17M C Koch, K Ricker, M Otto, et al.
Pageof 7

Showing results (51-60 of 63) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics. Part A|July 12, 2005
Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delayG von Beust, S M Sauter, T Liehr, et al.
Prenatal Diagnosis|March 1, 2006
Prenatal diagnosis of a large de novo terminal deletion of chromosome 11qD Boehm, F Laccone, P Burfeind, et al.
American Journal of Medical Genetics|March 1, 1992
Prenatal diagnosis of the Pallister-Killian mosaic aneuploidy syndrome by CVSJ Bernert, I Bartels, G Gatz, et al.
Cytogenetic and Genome Research|February 14, 2003
A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosisR Trappe, D Böhm, J Kohlhase, et al.
Journal of Medical Genetics|May 15, 2003
Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndromeM Meins, P Burfeind, S Motsch, et al.
American Journal of Medical Genetics. Part A|April 23, 2004
First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndromeM Meins, D Böhm, A Großmann, et al.
Science (New York, N.Y.)|August 7, 1992
The skeletal muscle chloride channel in dominant and recessive human myotoniaM C Koch, K Steinmeyer, C Lorenz, et al.
Journal of Medical Genetics|September 1, 1991
Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17M C Koch, K Ricker, M Otto, et al.
Human Genetics|December 1, 1990
The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII geneD S Millar, R A Steinbrecher, K Wieland, et al.
Human Genetics|November 1, 1991
Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17M C Koch, K Ricker, M Otto, et al.
Pageof 7