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1Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21–cen
المؤلفون: H Kääriäinen, Klaus Zerres, T. Lennert, Hph. Neumann, Yves Pirson, Sabine Rudnik-Schöneborn, Brunhilde Wirth, L. Bachner, Joachim Misselwitz, T. Eggermann, V. Steinbicker, Michael Knapp, Karl Schärer, Gabi Mücher, Ke. Vonmuhlendahl, G. Deschennes
المصدر: Nature Genetics. 7:429-432
مصطلحات موضوعية: Genetic Markers, Male, Molecular Sequence Data, 030232 urology & nephrology, Fibrocystin, Genes, Recessive, Prenatal diagnosis, DNA, Satellite, 03 medical and health sciences, 0302 clinical medicine, Gene mapping, Genetic linkage, Prenatal Diagnosis, Genetics, medicine, Humans, Polycystic Kidney, Autosomal Recessive, 030304 developmental biology, 0303 health sciences, Base Sequence, biology, Genetic heterogeneity, Infant, Newborn, Chromosome Mapping, Infant, Autosomal recessive polycystic kidney disease (ARPKD), medicine.disease, Autosomal Recessive Polycystic Kidney Disease, Pedigree, 3. Good health, Haplotypes, Chromosomal region, biology.protein, Chromosomes, Human, Pair 6, Female, Lod Score
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a54cd27f82f86dc57a4c253fcfdc98b5
https://doi.org/10.1038/ng0794-429 -
2
المؤلفون: Said Akli, Jean-Claude Chomel, Axel Kahn, L. Bachner, J. M. Lacorte, L. Poenaru
المصدر: Human Molecular Genetics. 2:61-67
مصطلحات موضوعية: Adult, Molecular Sequence Data, Population, Biology, Polymerase Chain Reaction, Exon, Hexosaminidase A, Gene Frequency, Ethnicity, Genetics, medicine, Humans, Point Mutation, Missense mutation, Amino Acid Sequence, RNA, Messenger, education, Molecular Biology, Gene, Cells, Cultured, Genetics (clinical), education.field_of_study, Tay-Sachs Disease, Base Sequence, Point mutation, Tay-Sachs disease, Nucleic acid sequence, Infant, Exons, General Medicine, Fibroblasts, medicine.disease, Molecular biology, Introns, beta-N-Acetylhexosaminidases, Open reading frame, Oligodeoxyribonucleotides, Jews
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80163f3c54a6c68a666648de2a7079d4
https://doi.org/10.1093/hmg/2.1.61 -
3
المؤلفون: T Bienvenu, Pierre Billuart, L. Bachner, Jacques Motte, M C Vinet, V. des Portes, Olivier Dulac, Jamel Chelly, D Smadja, Alain Carrié, Isabelle Desguerre, Cherif Beldjord, JM Pinard, G Ponsot, M.-L. Moutard, Odile Boespflug-Tanguy, Axel Kahn
المصدر: Journal of medical genetics. 34(3)
مصطلحات موضوعية: Adult, Male, X Chromosome, Genetic Linkage, Lissencephaly, Locus (genetics), Biology, Germline, Gene mapping, Genetic linkage, Intellectual Disability, Genetics, medicine, Humans, Child, Genetics (clinical), X chromosome, Sex Chromosome Aberrations, Genes, Dominant, Cerebral Cortex, Epilepsy, Breakpoint, Haplotype, Chromosome Mapping, Syndrome, medicine.disease, Pedigree, Haplotypes, Child, Preschool, Mutation, Female, Microsatellite Repeats, Research Article
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4
المؤلفون: Nadem Soufir, M C Vinet, Enrico Bertini, Axel Kahn, T. Brüls, Th. Bienvenu, Jamel Chelly, Cherif Beldjord, Emilio Franzoni, Elisabetta Malaspina, Pierre Billuart, L. Bachner, Valentina Marchiani, V. des Portes
المصدر: American journal of medical genetics. 64(1)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Ataxia, X Chromosome, Genotype, Genetic Linkage, Encephalopathy, Pseudoautosomal region, Epilepsies, Myoclonic, Neurological disorder, Biology, DNA, Satellite, Macular Degeneration, Genetic linkage, Intellectual Disability, medicine, Humans, Genetics (clinical), X chromosome, X-linked recessive inheritance, Genetics, Macular degeneration, medicine.disease, Pedigree, Female, medicine.symptom
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5
المؤلفون: A, Frisch, M, Frydman, O, Blau, R, Narinsky, G, Morduchowicz, G, Boner, L, Bachner, R, Steinherz
المصدر: Israel journal of medical sciences. 28(10)
مصطلحات موضوعية: Adult, Male, Adolescent, Chromosome Mapping, Uzbekistan, Emigration and Immigration, Middle Aged, Polycystic Kidney, Autosomal Dominant, Pedigree, Blotting, Southern, Phenotype, Gene Frequency, Haplotypes, Evaluation Studies as Topic, Jews, Humans, Female, Israel, Lod Score, Child, Chromosomes, Human, Pair 16, Polymorphism, Restriction Fragment Length, Aged
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a574e0b585ab79ef5260e95adfbd8628
https://pubmed.ncbi.nlm.nih.gov/1356950 -
6
المؤلفون: Axel Kahn, Cherif Beldjord, Jamel Chelly, Enrico Bertini, Nadem Soufir, M C Vinet, V. des Portes, T. Brüls, Emilio Franzoni, Elisabetta Malaspina, T Bienvenu, Pierre Billuart, L. Bachner, Valentina Marchiani
المصدر: Archives de Pédiatrie. 3:930
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
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7
المؤلفون: Nadem Soufir, T. Brüls, Joëlle Boué, M C Vinet, V. des Portes, Cherif Beldjord, Jamel Chelly, L. Telvi, G Ponsot, T Bienvenu, Pierre Billuart, L. Bachner
المصدر: Archives de Pédiatrie. 3:923
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
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8
المؤلفون: L Bachner
المصدر: médecine/sciences. 6:904
مصطلحات موضوعية: General Medicine, General Biochemistry, Genetics and Molecular Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b056120630bcdf3119379b21d6ac5a30
https://doi.org/10.4267/10608/4258 -
9
المؤلفون: D. Bogdanovsky, G. Shapira, Michel Raymondjean, L. Bachner, B. Kneip
المصدر: Journal of Chromatography B: Biomedical Sciences and Applications. 162:547-559
مصطلحات موضوعية: chemistry.chemical_classification, Chromatography, Spermine, Salt (chemistry), General Chemistry, Cell-free system, Spermidine, chemistry.chemical_compound, medicine.anatomical_structure, chemistry, Reticulocyte, Reagent, medicine, Putrescine, Polyamine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1a54a484f884cdaca486b76315ab76e5
https://doi.org/10.1016/s0378-4347(00)81834-4 -
10
المصدر: Life Sciences. 27:387-394
مصطلحات موضوعية: Male, medicine.medical_specialty, Cardiomegaly, Biology, Isozyme, General Biochemistry, Genetics and Molecular Biology, Muscle hypertrophy, Cyclic nucleotide, chemistry.chemical_compound, Cytosol, Internal medicine, Cyclic AMP, medicine, Animals, General Pharmacology, Toxicology and Pharmaceutics, Protein kinase A, Cyclic GMP, Triiodothyronine, Kinase, Myocardium, Organ Size, General Medicine, Rats, Isoenzymes, Endocrinology, chemistry, Specific activity, Protein Kinases, Function (biology)