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L Messiaen

Showing results (41-50 of 57) with videos related to

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Genomics|September 21, 2000
Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPESE De Baere, Y Fukushima, K Small, et al.
European Journal of Human Genetics : EJHG|January 1, 1996
Refined genetic and physical mapping of BPES type IIL Messiaen, B P Leroy, S De Bie, et al.
Prenatal Diagnosis|January 26, 2002
Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)B Loeys, L Nuytinck, P Van Acker, et al.
European Journal of Gastroenterology & Hepatology|September 21, 2001
Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis CH Van Vlierberghe, J R Delanghe, S De Bie, et al.
Genes, Chromosomes & Cancer|November 12, 2005
Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patientsK Wimmer, S Yao, K Claes, et al.
Journal of Medical Genetics|February 5, 2003
Independent NF1 mutations in two large families with spinal neurofibromatosisL Messiaen, V Riccardi, J Peltonen, et al.
Human Genetics|December 18, 1998
Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversionW Courtens, D Grossman, N Van Roy, et al.
Journal of Medical Genetics|December 10, 2002
Evolution and expression of FOXL2J Cocquet, E Pailhoux, F Jaubert, et al.
American Journal of Nephrology|January 1, 1996
Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failureA Van Loo, R Vanholder, K Madsen, et al.
Human Mutation|November 22, 2007
RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interferenceJ Etzler, A Peyrl, A Zatkova, et al.
Pageof 6

Showing results (41-50 of 57) with videos related to

Sort By:
Pageof 6
Genomics|September 21, 2000
Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPESE De Baere, Y Fukushima, K Small, et al.
European Journal of Human Genetics : EJHG|January 1, 1996
Refined genetic and physical mapping of BPES type IIL Messiaen, B P Leroy, S De Bie, et al.
Prenatal Diagnosis|January 26, 2002
Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)B Loeys, L Nuytinck, P Van Acker, et al.
European Journal of Gastroenterology & Hepatology|September 21, 2001
Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis CH Van Vlierberghe, J R Delanghe, S De Bie, et al.
Genes, Chromosomes & Cancer|November 12, 2005
Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patientsK Wimmer, S Yao, K Claes, et al.
Journal of Medical Genetics|February 5, 2003
Independent NF1 mutations in two large families with spinal neurofibromatosisL Messiaen, V Riccardi, J Peltonen, et al.
Human Genetics|December 18, 1998
Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversionW Courtens, D Grossman, N Van Roy, et al.
Journal of Medical Genetics|December 10, 2002
Evolution and expression of FOXL2J Cocquet, E Pailhoux, F Jaubert, et al.
American Journal of Nephrology|January 1, 1996
Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failureA Van Loo, R Vanholder, K Madsen, et al.
Human Mutation|November 22, 2007
RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interferenceJ Etzler, A Peyrl, A Zatkova, et al.
Pageof 6