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American Journal of Human Genetics
|
September 1, 1995
The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients
A Shaag, Y Anikster, E Christensen, et al.
Bone Marrow Transplantation
|
January 1, 1993
Fetal liver transplantation: biology and clinical results
J L Touraine, M G Roncarolo, R Bacchetta, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1985
Combined deficiency of xanthine oxidase and sulphite oxidase: diagnosis of a new case followed by an antenatal diagnosis
P Desjacques, B Mousson, C Vianey-Liaud, et al.
Pediatrie
|
January 1, 1993
[Value of skin fibroblasts in culture for the diagnosis of mitochondrial cell dysfunction. Apropos of 5 cases with cytochrome c oxidase deficiency]
J M Collombet, M T Zabot, M Vidailhet, et al.
Prenatal Diagnosis
|
March 4, 2000
Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in northern Israel using polymorphic DNA markers
A Shalata, H Mandel, C Dorche, et al.
Bone Marrow Transplantation
|
January 1, 1992
In utero transplantation of stem cells in humans: immunological aspects and clinical follow-up of patients
J L Touraine, D Raudrant, A Rebaud, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1991
The place of fetal liver transplantation in the treatment of inborn errors of metabolism
J L Touraine, S Laplace, F Rezzoug, et al.
American Journal of Human Genetics
|
June 23, 1998
Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping
A Shalata, H Mandel, J Reiss, et al.
American Journal of Human Genetics
|
March 1, 1996
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII
R Vervoort, M R Islam, W S Sly, et al.
Annals of Neurology
|
August 17, 2001
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease
O P van Diggelen, S Thobois, C Tilikete, et al.
Page
of 6
Search research articles
Search
Showing results (41-50 of 54) with videos related to
Sort By:
Page
of 6
American Journal of Human Genetics
|
September 1, 1995
The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients
A Shaag, Y Anikster, E Christensen, et al.
Bone Marrow Transplantation
|
January 1, 1993
Fetal liver transplantation: biology and clinical results
J L Touraine, M G Roncarolo, R Bacchetta, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1985
Combined deficiency of xanthine oxidase and sulphite oxidase: diagnosis of a new case followed by an antenatal diagnosis
P Desjacques, B Mousson, C Vianey-Liaud, et al.
Pediatrie
|
January 1, 1993
[Value of skin fibroblasts in culture for the diagnosis of mitochondrial cell dysfunction. Apropos of 5 cases with cytochrome c oxidase deficiency]
J M Collombet, M T Zabot, M Vidailhet, et al.
Prenatal Diagnosis
|
March 4, 2000
Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in northern Israel using polymorphic DNA markers
A Shalata, H Mandel, C Dorche, et al.
Bone Marrow Transplantation
|
January 1, 1992
In utero transplantation of stem cells in humans: immunological aspects and clinical follow-up of patients
J L Touraine, D Raudrant, A Rebaud, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1991
The place of fetal liver transplantation in the treatment of inborn errors of metabolism
J L Touraine, S Laplace, F Rezzoug, et al.
American Journal of Human Genetics
|
June 23, 1998
Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping
A Shalata, H Mandel, J Reiss, et al.
American Journal of Human Genetics
|
March 1, 1996
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII
R Vervoort, M R Islam, W S Sly, et al.
Annals of Neurology
|
August 17, 2001
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease
O P van Diggelen, S Thobois, C Tilikete, et al.
Page
of 6