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Journal of Inherited Metabolic Disease
|
January 1, 1995
Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up
J Amiel, J C Maziere, I Beucler, et al.
Pediatric Research
|
August 14, 1999
Hematologic involvement in mitochondrial cytopathies in childhood: a retrospective study of bone marrow smears
B Bader-Meunier, F Miélot, J Breton-Gorius, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
September 1, 1991
Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid
D Pham-Dinh, J L Popot, O Boespflug-Tanguy, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
July 19, 2001
Efficacy of high dose steroid therapy in children with severe acute transverse myelitis
P Defresne, L Meyer, M Tardieu, et al.
Neuropediatrics
|
August 25, 2001
Respiratory chain deficiency in Alpers syndrome
M Gauthier-Villars, P Landrieu, V Cormier-Daire, et al.
The Journal of Clinical Investigation
|
June 1, 1994
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency
T Bourgeron, D Chretien, J Poggi-Bach, et al.
European Journal of Human Genetics : EJHG
|
January 1, 1993
Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event
I Henry, A Puech, A Riesewijk, et al.
Human Mutation
|
April 27, 2004
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus
I Maystadt, M Zarhrate, P Landrieu, et al.
The Journal of Clinical Investigation
|
September 1, 1996
Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association
L Bürglen, J Amiel, L Viollet, et al.
British Journal of Haematology
|
June 1, 1994
Refractory anaemia and mitochondrial cytopathy in childhood
B Bader-Meunier, A Rötig, F Mielot, et al.
Page
of 13
Search research articles
Search
Showing results (111-120 of 126) with videos related to
Sort By:
Page
of 13
Journal of Inherited Metabolic Disease
|
January 1, 1995
Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up
J Amiel, J C Maziere, I Beucler, et al.
Pediatric Research
|
August 14, 1999
Hematologic involvement in mitochondrial cytopathies in childhood: a retrospective study of bone marrow smears
B Bader-Meunier, F Miélot, J Breton-Gorius, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
September 1, 1991
Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid
D Pham-Dinh, J L Popot, O Boespflug-Tanguy, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
July 19, 2001
Efficacy of high dose steroid therapy in children with severe acute transverse myelitis
P Defresne, L Meyer, M Tardieu, et al.
Neuropediatrics
|
August 25, 2001
Respiratory chain deficiency in Alpers syndrome
M Gauthier-Villars, P Landrieu, V Cormier-Daire, et al.
The Journal of Clinical Investigation
|
June 1, 1994
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency
T Bourgeron, D Chretien, J Poggi-Bach, et al.
European Journal of Human Genetics : EJHG
|
January 1, 1993
Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event
I Henry, A Puech, A Riesewijk, et al.
Human Mutation
|
April 27, 2004
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus
I Maystadt, M Zarhrate, P Landrieu, et al.
The Journal of Clinical Investigation
|
September 1, 1996
Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association
L Bürglen, J Amiel, L Viollet, et al.
British Journal of Haematology
|
June 1, 1994
Refractory anaemia and mitochondrial cytopathy in childhood
B Bader-Meunier, A Rötig, F Mielot, et al.
Page
of 13