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A Munnich

Showing results (231-240 of 426) with videos related to

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Archives Francaises De Pediatrie|October 1, 1992
[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene]F Rey, V Abadie, S Lyonnet, et al.
Nature Genetics|November 1, 1995
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patientsE Bussaglia, O Clermont, E Tizzano, et al.
Nature Genetics|August 1, 1993
A duplication in the L1CAM gene associated with X-linked hydrocephalusG Van Camp, L Vits, P Coucke, et al.
The Journal of Clinical Investigation|June 1, 1994
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiencyT Bourgeron, D Chretien, J Poggi-Bach, et al.
Genomics|November 1, 1989
CpG dinucleotides are mutation hot spots in phenylketonuriaV Abadie, S Lyonnet, N Maurin, et al.
Molecular Human Reproduction|August 10, 2006
Multiple displacement amplification improves PGD for fragile X syndromeP Burlet, N Frydman, N Gigarel, et al.
Antisense & Nucleic Acid Drug Development|July 12, 2001
Mitochondria transfection by oligonucleotides containing a signal peptide and vectorized by cationic liposomesV Geromel, A Cao, D Briane, et al.
The Journal of Pediatrics|December 1, 1992
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defectsK M Gibson, M J Bennett, C E Mize, et al.
The Journal of Biological Chemistry|May 25, 1991
A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuriaC Caillaud, S Lyonnet, F Rey, et al.
Human Molecular Genetics|September 25, 1997
Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetusesA L Delezoide, C Lasselin-Benoist, L Legeai-Mallet, et al.
Pageof 43

Showing results (231-240 of 426) with videos related to

Sort By:
Pageof 43
Archives Francaises De Pediatrie|October 1, 1992
[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene]F Rey, V Abadie, S Lyonnet, et al.
Nature Genetics|November 1, 1995
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patientsE Bussaglia, O Clermont, E Tizzano, et al.
Nature Genetics|August 1, 1993
A duplication in the L1CAM gene associated with X-linked hydrocephalusG Van Camp, L Vits, P Coucke, et al.
The Journal of Clinical Investigation|June 1, 1994
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiencyT Bourgeron, D Chretien, J Poggi-Bach, et al.
Genomics|November 1, 1989
CpG dinucleotides are mutation hot spots in phenylketonuriaV Abadie, S Lyonnet, N Maurin, et al.
Molecular Human Reproduction|August 10, 2006
Multiple displacement amplification improves PGD for fragile X syndromeP Burlet, N Frydman, N Gigarel, et al.
Antisense & Nucleic Acid Drug Development|July 12, 2001
Mitochondria transfection by oligonucleotides containing a signal peptide and vectorized by cationic liposomesV Geromel, A Cao, D Briane, et al.
The Journal of Pediatrics|December 1, 1992
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defectsK M Gibson, M J Bennett, C E Mize, et al.
The Journal of Biological Chemistry|May 25, 1991
A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuriaC Caillaud, S Lyonnet, F Rey, et al.
Human Molecular Genetics|September 25, 1997
Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetusesA L Delezoide, C Lasselin-Benoist, L Legeai-Mallet, et al.
Pageof 43