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1
المؤلفون: M. Levardon, Mireille Doussau, L. Telvi, Alexandre Stojkoski, Jean Gogusev, S. du Manoir, J.Bouquet de Jolinière
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Embryology, medicine.medical_specialty, Endometriosis, Chromosomal rearrangement, Biology, Proto-Oncogene Mas, Cell Line, Chromosome instability, Genetics, medicine, Chromosomes, Human, Humans, Molecular Biology, In Situ Hybridization, Fluorescence, X chromosome, Chromosome Aberrations, medicine.diagnostic_test, Cytogenetics, Nucleic Acid Hybridization, Obstetrics and Gynecology, Chromosome, Karyotype, Cell Biology, Molecular biology, Reproductive Medicine, Developmental Biology, Fluorescence in situ hybridization, Comparative genomic hybridization
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::073a2a6a65525868ab78fd1f942dfd63
https://doi.org/10.1093/molehr/6.9.821 -
2
المؤلفون: L. Telvi, J.B. de Jolinière, Jean Gogusev, S. du Manoir, M. Levardon, Alexandre Stojkoski, Mireille Doussau
المصدر: Human Genetics. 105:444-451
مصطلحات موضوعية: medicine.medical_specialty, Chromosomes, Human, Pair 22, Endometriosis, Biology, Genome, DNA sequencing, Gene duplication, Genetics, medicine, Humans, Gene, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome Aberrations, Gene Amplification, Cytogenetics, Chromosome, DNA, medicine.disease, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 5, Chromosomes, Human, Pair 6, Female, Chromosome Deletion, Chromosomes, Human, Pair 9, Chromosomes, Human, Pair 16, Comparative genomic hybridization
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3
المؤلفون: Olivier Cussenot, M Barnoux, Henri Copin, C Ajzenberg, L Telvi, J Lubetzki, A Ion, A. Lesourd
المصدر: Journal of Medical Genetics. 37:972-974
مصطلحات موضوعية: Infertility, Sexual differentiation, Autosome, Anatomy, Biology, medicine.disease, medicine.anatomical_structure, Testis determining factor, Scrotum, Genetics, medicine, medicine.symptom, Letters to the Editor, Genetics (clinical), Penis, X chromosome, Low-set ears
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4
المؤلفون: Jean-Louis Chaussain, L Telvi, A Lebbar, J.P. Barbet, O Del Pino
المصدر: Pediatrics. 104(2 Pt 1)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Male Phenotype, business.industry, Mosaicism, Abnormal internal genitalia, Disorders of Sex Development, Gonadal dysgenesis, Turner Syndrome, Prenatal diagnosis, 45,X/46,XY mosaicism, medicine.disease, Phenotype, Hypospadias, Karyotyping, Y Chromosome, Pediatrics, Perinatology and Child Health, Male pseudohermaphroditism, Turner syndrome, medicine, Gonadal Dysgenesis, Mixed, Humans, business, Sex Chromosome Aberrations
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f3e436b3b5dc84b9386a3c8b4004949
https://pubmed.ncbi.nlm.nih.gov/10429013 -
5
المؤلفون: L Telvi, Ken McElreavey, Josué Feingold, Marc Fellous, Jean-Claude Carel, Isabelle Desguerre, A. Ion, M Piraud, G Ponsot, A M Boutin
المصدر: Journal of medical genetics. 33(9)
مصطلحات موضوعية: Proband, Male, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, X Chromosome, Adolescent, Genotype, Biology, Genitalia, Male, Short stature, Hypogonadotropic hypogonadism, Intellectual Disability, Gene duplication, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), X chromosome, Sex Chromosome Aberrations, Hypogonadism, Karyotype, medicine.disease, Pedigree, Phenotype, Karyotyping, dup, medicine.symptom, Hypogonadotrophic hypogonadism, Research Article
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6
المؤلفون: A, Ion, L, Telvi, J L, Chaussain, F, Galacteros, J, Valayer, M, Fellous, K, McElreavey
المصدر: American journal of human genetics. 58(6)
مصطلحات موضوعية: Genetic Markers, Male, X-linked Nuclear Protein, Adolescent, Molecular Sequence Data, Disorders of Sex Development, Polymerase Chain Reaction, alpha-Thalassemia, Intellectual Disability, RNA Precursors, Humans, Abnormalities, Multiple, Amino Acid Sequence, DNA Primers, Sequence Deletion, Gonadal Dysgenesis, 46,XY, Base Sequence, DNA Helicases, Infant, Nuclear Proteins, Exons, Syndrome, Introns, Pedigree, Alternative Splicing, Phenotype, Female, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::dd314378acbd25df517b7d45e31cbac7
https://pubmed.ncbi.nlm.nih.gov/8651295 -
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المؤلفون: P M Sinet, L Telvi, Josué Feingold, JM Pinard, Olivier Dulac, A Nicole, A Pompidou, G Ponsot, R Ion
مصطلحات موضوعية: Genetics, Williams-beuren syndrome, congenital, hereditary, and neonatal diseases and abnormalities, Dosage compensation, media_common.quotation_subject, Breakpoint, Chromosomal translocation, Biology, Phenotype, Pathogenesis, Girl, Genetics (clinical), X chromosome, media_common, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39e38f367256e717b1d4cc8f9677a89f
https://europepmc.org/articles/PMC1016139/ -
8
المؤلفون: L. Telvi, Gérard Ponsot, I. Ceballos, Pierre Kamoun, P. Van Bogaert, Isabelle Desguerre
المصدر: Journal of Inherited Metabolic Disease. 15:790-791
مصطلحات موضوعية: Heterozygote, medicine.medical_specialty, Lesch-Nyhan Syndrome, Choreoathetosis, Physiology, Neurological examination, Biology, Internal medicine, Genetics, medicine, Humans, Spasticity, Child, Genetics (clinical), X chromosome, medicine.diagnostic_test, Cranial nerves, DNA, medicine.disease, Hypotonia, Blotting, Southern, Endocrinology, Female, Apgar score, medicine.symptom, Lesch–Nyhan syndrome
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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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10
المؤلفون: N. Duchet, B. Mace, M.D. Cooper, F. Coutance, Gérard Renoux, A. Pompidou, L. Telvi, John W. Hadden
المصدر: International Journal of Immunopharmacology. 7:561-566
مصطلحات موضوعية: Male, T-Lymphocytes, Cellular differentiation, Immunology, Population, Biology, Lymphocyte Activation, Monocytes, Leukocyte Count, Thiocarbamates, Null cell, medicine, Humans, Macrophage, Inducer, education, B cell, Pharmacology, B-Lymphocytes, education.field_of_study, Antibodies, Monoclonal, Cell Differentiation, T lymphocyte, Molecular biology, In vitro, Killer Cells, Natural, Phenotype, medicine.anatomical_structure, Antigens, Surface, Indicators and Reagents, Ditiocarb