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P Labrune

Showing results (111-120 of 122) with videos related to

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Blood|July 27, 2000
Triose phosphate isomerase deficiency in 3 French families: two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris)C Valentin, S Pissard, J Martin, et al.
The European Respiratory Journal|August 9, 2002
Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesisM Humbert, P Labrune, O Sitbon, et al.
American Journal of Medical Genetics. Part A|January 27, 2010
Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20N Guediche, S Brisset, J-J Benichou, et al.
Clinical Genetics|December 1, 1996
Increased paternal age in CHARGE associationA L Tellier, S Lyonnet, V Cormier-Daire, et al.
Journal of Medical Genetics|June 17, 2003
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13N V Morgan, C Bacchelli, P Gissen, et al.
Prenatal Diagnosis|January 22, 2009
Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literatureJ M Levaillant, D Moeglin, K Zouiten, et al.
Orphanet Journal of Rare Diseases|July 9, 2024
Short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde studyD A Weinstein, R J Jackson, E A Brennan, et al.
Hepatology (Baltimore, Md.)|August 1, 1996
Current therapy for Crigler-Najjar syndrome type 1: report of a world registryC N van der Veere, M Sinaasappel, A F McDonagh, et al.
Orphanet Journal of Rare Diseases|August 30, 2024
Correction to: short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde studyD A Weinstein, R J Jackson, E A Brennan, et al.
American Journal of Medical Genetics|April 29, 1998
CHARGE syndrome: report of 47 cases and reviewA L Tellier, V Cormier-Daire, V Abadie, et al.
Pageof 13

Showing results (111-120 of 122) with videos related to

Sort By:
Pageof 13
Blood|July 27, 2000
Triose phosphate isomerase deficiency in 3 French families: two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris)C Valentin, S Pissard, J Martin, et al.
The European Respiratory Journal|August 9, 2002
Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesisM Humbert, P Labrune, O Sitbon, et al.
American Journal of Medical Genetics. Part A|January 27, 2010
Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20N Guediche, S Brisset, J-J Benichou, et al.
Clinical Genetics|December 1, 1996
Increased paternal age in CHARGE associationA L Tellier, S Lyonnet, V Cormier-Daire, et al.
Journal of Medical Genetics|June 17, 2003
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13N V Morgan, C Bacchelli, P Gissen, et al.
Prenatal Diagnosis|January 22, 2009
Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literatureJ M Levaillant, D Moeglin, K Zouiten, et al.
Orphanet Journal of Rare Diseases|July 9, 2024
Short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde studyD A Weinstein, R J Jackson, E A Brennan, et al.
Hepatology (Baltimore, Md.)|August 1, 1996
Current therapy for Crigler-Najjar syndrome type 1: report of a world registryC N van der Veere, M Sinaasappel, A F McDonagh, et al.
Orphanet Journal of Rare Diseases|August 30, 2024
Correction to: short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde studyD A Weinstein, R J Jackson, E A Brennan, et al.
American Journal of Medical Genetics|April 29, 1998
CHARGE syndrome: report of 47 cases and reviewA L Tellier, V Cormier-Daire, V Abadie, et al.
Pageof 13