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

L Poenaru

Showing results (61-70 of 92) with videos related to

Pageof 10
Sort By:
The Journal of Biological Chemistry|May 5, 1990
A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs diseaseS Akli, J Chelly, C Mezard, et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie|January 1, 1983
Reactivating factors of human alpha-mannosidase mutantM C Miranda, S Gautron, H Puissant, et al.
Prenatal Diagnosis|September 1, 1984
Prenatal diagnosis of atypical Tay-Sachs disease by chorionic villi samplingA M Besançon, J P Belon, L Castelnau, et al.
American Journal of Human Genetics|July 31, 1998
Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher diseaseD P Germain, J P Puech, C Caillaud, et al.
Enzyme|January 1, 1984
Age dependency of serum acid phosphatase in controls and Gaucher patientsJ Magalhães, R Pinto, M Lemos, et al.
Journal of Inherited Metabolic Disease|January 1, 1988
First trimester prenatal diagnosis of metachromatic leukodystrophy on chorionic villi by 'immunoprecipitation-electrophoresis'L Poenaru, L Castelnau, A M Besançon, et al.
Clinical Genetics|November 1, 1976
Prenatal diagnosis of fucosidosisL Poenaru, J C Dreyfus, J Boue, et al.
Prenatal Diagnosis|April 1, 1990
Prenatal diagnosis of mucolipidosis type II on first-trimester amniotic fluidL Poenaru, C Mezard, S Akli, et al.
Biochemical and Biophysical Research Communications|June 9, 1997
Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patientsM Nicolino, J P Puech, F Letourneur, et al.
La Nouvelle Presse Medicale|December 18, 1982
[Acid maltase deficiency with diaphragmatic paralysis and respiratory insufficiency in adults]J Lissac, M Fardeau, F Contamin, et al.
Pageof 10

Showing results (61-70 of 92) with videos related to

Sort By:
Pageof 10
The Journal of Biological Chemistry|May 5, 1990
A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs diseaseS Akli, J Chelly, C Mezard, et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie|January 1, 1983
Reactivating factors of human alpha-mannosidase mutantM C Miranda, S Gautron, H Puissant, et al.
Prenatal Diagnosis|September 1, 1984
Prenatal diagnosis of atypical Tay-Sachs disease by chorionic villi samplingA M Besançon, J P Belon, L Castelnau, et al.
American Journal of Human Genetics|July 31, 1998
Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher diseaseD P Germain, J P Puech, C Caillaud, et al.
Enzyme|January 1, 1984
Age dependency of serum acid phosphatase in controls and Gaucher patientsJ Magalhães, R Pinto, M Lemos, et al.
Journal of Inherited Metabolic Disease|January 1, 1988
First trimester prenatal diagnosis of metachromatic leukodystrophy on chorionic villi by 'immunoprecipitation-electrophoresis'L Poenaru, L Castelnau, A M Besançon, et al.
Clinical Genetics|November 1, 1976
Prenatal diagnosis of fucosidosisL Poenaru, J C Dreyfus, J Boue, et al.
Prenatal Diagnosis|April 1, 1990
Prenatal diagnosis of mucolipidosis type II on first-trimester amniotic fluidL Poenaru, C Mezard, S Akli, et al.
Biochemical and Biophysical Research Communications|June 9, 1997
Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patientsM Nicolino, J P Puech, F Letourneur, et al.
La Nouvelle Presse Medicale|December 18, 1982
[Acid maltase deficiency with diaphragmatic paralysis and respiratory insufficiency in adults]J Lissac, M Fardeau, F Contamin, et al.
Pageof 10