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Human mutation

Showing results (1001-1010 of 6,552) with videos related to

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Human Mutation|March 29, 2000
Novel de novo nonsense mutation of MECP2 in a patient with Rett syndromeS J Kim, E H Cook
Human Mutation|March 29, 2000
Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patientsM Medlej-Hashim, M Rawashdeh, E Chouery, et al.
Human Mutation|March 29, 2000
Novel mutations of the RPGR gene in RP3 familiesI Zito, M B Gorin, C Plant, et al.
Human Mutation|March 29, 2000
A novel mutation, Y103X, and exon skipping in a patient with Hunter diseaseG Bonuccelli, M Filocamo, S Regis, et al.
Human Mutation|March 29, 2000
A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)J Y Wu, C F Yang, C C Lee, et al.
Human Mutation|March 29, 2000
Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease)M C Wu, F J Tsai, C C Le, et al.
Human Mutation|March 29, 2000
Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinuricsW L Gitomer, B Y Reed, C Y Pak
Human Mutation|March 29, 2000
An R223P mutation in EXT2 gene causes hereditary multiple exostosesY R Shi, J Y Wu, F J Tsai, et al.
Human Mutation|February 19, 2000
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genesW Wuyts, W Van Hul
Human Mutation|February 19, 2000
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)B Wirth
Pageof 656

Showing results (1001-1010 of 6,552) with videos related to

Sort By:
Pageof 656
Human Mutation|March 29, 2000
Novel de novo nonsense mutation of MECP2 in a patient with Rett syndromeS J Kim, E H Cook
Human Mutation|March 29, 2000
Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patientsM Medlej-Hashim, M Rawashdeh, E Chouery, et al.
Human Mutation|March 29, 2000
Novel mutations of the RPGR gene in RP3 familiesI Zito, M B Gorin, C Plant, et al.
Human Mutation|March 29, 2000
A novel mutation, Y103X, and exon skipping in a patient with Hunter diseaseG Bonuccelli, M Filocamo, S Regis, et al.
Human Mutation|March 29, 2000
A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)J Y Wu, C F Yang, C C Lee, et al.
Human Mutation|March 29, 2000
Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease)M C Wu, F J Tsai, C C Le, et al.
Human Mutation|March 29, 2000
Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinuricsW L Gitomer, B Y Reed, C Y Pak
Human Mutation|March 29, 2000
An R223P mutation in EXT2 gene causes hereditary multiple exostosesY R Shi, J Y Wu, F J Tsai, et al.
Human Mutation|February 19, 2000
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genesW Wuyts, W Van Hul
Human Mutation|February 19, 2000
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)B Wirth
Pageof 656