المؤلفون: C. Larher-Loyer, Claudine Barrez, Gilles Daugan, Sylvie Durfort, Anne-Sylvie Cartron-Kernaleguen, Brigitte Le Mintier, Danièle Meledo, Marie-Odile Rolland-Jacob

المساهمون: Centre de Recherche Juridique de l'Ouest

المصدر: Revue Judiciaire de l'Ouest 9(1):100-134

الوصول الحر: http://www.persee.fr/doc/juro_0243-9069_1985_num_9_1_1291Test

المؤلفون: Marie-Odile Rolland-Jacob

المساهمون: Centre de Recherche Juridique de l'Ouest

المصدر: Revue Judiciaire de l'Ouest 8(2):80-95

الوصول الحر: http://www.persee.fr/doc/juro_0243-9069_1984_num_8_2_3407Test

المؤلفون: Jérme Jérôme Harambat, Gérard Champion, Marie-Alice Macher, Pierre Cochat, Rémi Salomon, Bruno Ranchin, Claude Guyot, Marie-France Gagnadoux, Jean-Pierre J.-P. Berthélémé, Sophie S. Taque, Marie-Odile Rolland, Françoise Janssen, Bernard Boudailliez, Hubert Nivet, Brigitte B. Llanas, Sonia Fargue, Michel Tsimaratos

المصدر: Kidney International. 76(7):767-773

مصطلحات موضوعية: Nephrology, medicine.medical_specialty, medicine.medical_treatment, Renal function, survival, renal insufficiency, Primary hyperoxaluria, primary hyperoxaluria type 1, Internal medicine, medicine, Humans, Renal replacement therapy, orphan disease, Age of Onset, Child, Dialysis, Retrospective Studies, Kidney, business.industry, Disease Management, medicine.disease, Surgery, Transplantation, medicine.anatomical_structure, Child, Preschool, Hyperoxaluria, Primary, Kidney Diseases, business, Kidney disease, Glomerular Filtration Rate

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39617f5559ad92db8e8c5a7e695276c2Test

المؤلفون: Andrés Nascimento, Rosaline Froissart, Isidro Ferrer, Cecilia Jimenez-Mallebrera, Jaume Colomer, Victoria Cusi, Montse Olivé, Marie-Odile Rolland, J. Corbera

المصدر: Histopathology. 54:765-768

مصطلحات موضوعية: Glycogen Branching Enzyme Deficiency, Pediatrics, medicine.medical_specialty, Histology, business.industry, medicine, Muscle weakness, General Medicine, Congenital hypotonia, medicine.symptom, business, Perinatal period, Pathology and Forensic Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ae2efdcd8ad0fa706995d86383b9ef54Test
https://doi.org/10.1111/j.1365-2559.2009.03281.xTest

المؤلفون: Nathalie Guffon, Yusuke Aoki, Marie-Odile Rolland, Gaixiu Zhang, Toshiyuki Fukao, Marie-Therese Zabot, Naomi Kondo

المصدر: Molecular Genetics and Metabolism. 92:375-378

مصطلحات موضوعية: Mitochondrial Diseases, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Alu element, Biology, Polymerase Chain Reaction, Biochemistry, Exon, Endocrinology, Tandem repeat, Alu Elements, Gene Duplication, Gene duplication, Genetics, Humans, Acetyl-CoA C-Acetyltransferase, Molecular Biology, Recombination, Genetic, Genome, Human, Thiolase, Intron, Exons, Molecular biology, Female, Tandem exon duplication, Homologous recombination

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16377325da319f766bf776154d256431Test
https://doi.org/10.1016/j.ymgme.2007.07.007Test

المؤلفون: Pascale de Lonlay, Anne-Marie Prieur, Marianne Debré, Vassili Valayannopoulos, Marina Cavazzana-Calvo, Stéphane Blanche, Daniel Rabier, Alain Fischer, Marie-Odile Rolland, Pierre Quartier, Laurence Cuisset, Bénédicte Neven

المصدر: New England Journal of Medicine. 356:2700-2703

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Ataxia, Mevalonate kinase deficiency, biology, business.industry, Hyper-IgD syndrome, Mevalonate kinase, General Medicine, medicine.disease, Transplantation, medicine.anatomical_structure, Endocrinology, Mevalonic aciduria, Internal medicine, Immunology, biology.protein, Medicine, Missense mutation, Bone marrow, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9d93fae8cdf1933b0b846f49266ac201Test
https://doi.org/10.1056/nejmoa070715Test

المؤلفون: Aurélia Liutkus, Sonia Fargue, Marie-Odile Rolland, Odile Basmaison, Bruno Ranchin, Pierre Cochat

المصدر: Pediatric Nephrology. 21:1075-1081

مصطلحات موضوعية: Nephrology, medicine.medical_specialty, Kidney, business.industry, Urinary system, medicine.medical_treatment, Urology, Renal function, Liver transplantation, medicine.disease, Transplantation, Primary hyperoxaluria, medicine.anatomical_structure, Endocrinology, Internal medicine, Hyperoxaluria, Primary, Pediatrics, Perinatology and Child Health, Humans, Medicine, Child, business, Dialysis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6adddd9a6619b1cdf64215fbd7bf06e8Test
https://doi.org/10.1007/s00467-006-0124-4Test

المؤلفون: Stanley H. Korman, Alisa Gutman, Marie Odile Rolland, Junko Kanno, Shigeo Kure, Isaiah D. Wexler

المصدر: Annals of Neurology. 59:411-415

مصطلحات موضوعية: medicine.medical_specialty, Hyperglycinemia, Hyperglycinemia, Nonketotic, DNA Mutational Analysis, Glycine encephalopathy, GCSH, Cerebrospinal fluid, Multienzyme Complexes, Transferases, Sodium Benzoate, Internal medicine, Humans, Medicine, Missense mutation, Prospective Studies, Aldehydes, Glycine cleavage system, business.industry, Infant, Newborn, medicine.disease, Neonatal hypotonia, Endocrinology, Neurology, Cord blood, Glycine Dehydrogenase, Mutation, Epoxy Compounds, Female, Ketamine, Amino Acid Oxidoreductases, Neurology (clinical), Carrier Proteins, business, Excitatory Amino Acid Antagonists, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7018393aebfd17d4a81f058cf51262ebTest
https://doi.org/10.1002/ana.20759Test

المؤلفون: Françoise Chevalier-Porst, Pierre Cochat, Dominique Bozon, Marie-Odile Rolland

المصدر: American Journal of Medical Genetics Part A. :80-83

مصطلحات موضوعية: Male, Non-Mendelian inheritance, DNA Mutational Analysis, Mothers, Biology, Frameshift mutation, Primary hyperoxaluria, Exon, Genetics, medicine, Humans, Allele, Frameshift Mutation, Alleles, Transaminases, Genetics (clinical), Homozygote, Chromosome, DNA, Telomere, Uniparental Disomy, medicine.disease, Uniparental disomy, Mutagenesis, Insertional, Minisatellite, Chromosomes, Human, Pair 2, Hyperoxaluria, Primary, Female, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dd609d616dcfede2a11d38cd77fdfa4Test
https://doi.org/10.1002/ajmg.a.30375Test

المؤلفون: Naoki Matsuo, Masashi Kondo, Naomi Kondo, Marie-Therese Zabot, Toshiyuki Fukao, Gai Xiu Zhang, Marie-Odile Rolland, Gilles Renom, Elias Touma

المصدر: Pediatric Research. 56:60-64

مصطلحات موضوعية: Male, medicine.medical_specialty, DNA, Complementary, Beta-ketothiolase deficiency, Immunoblotting, Mutant, Biology, medicine.disease_cause, Severity of Illness Index, Internal medicine, medicine, Humans, Point Mutation, Cell Line, Transformed, Mutation, Thiolase, Point mutation, Infant, Newborn, Infant, Fibroblasts, Acetyl-CoA C-Acyltransferase, medicine.disease, Mitochondria, Enzyme Activation, Endocrinology, Inborn error of metabolism, Child, Preschool, Pediatrics, Perinatology and Child Health, Acetyl-CoA C-acetyltransferase, Acyl Coenzyme A, Isoleucine, Metabolism, Inborn Errors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91f34346d932a952a41557059d4c40b5Test
https://doi.org/10.1203/01.pdr.0000129657.48122.52Test