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1
المؤلفون: N. Lemeur, G. Bourrouillou, Véronique Satre, Muriel Payet, Anouck Schneider, B. Quilichini, Thierry Rousseau, A. Liquier, Jacques Puechberty, François Vialard, S. Fert Ferrer, D. Molina Gomes, S. Amblard, Patrick Callier, Martine Doco-Fenzy, H. Stora, Marie-Pierre Cordier, Nathalie Marle, Brigitte Simon-Bouy, Joris Andrieux, Laurence Faivre, A. L. Mosca, Azzedine Aboura, Florence Fellmann, F. Girard-Lemaire, Danielle Martinet, Pascal Chambon, A. Delaye, Damien Sanlaville, M. Becker, Elisabeth Flori, C. Rangon, Sébastien Jacquemont, Anne Bazin, V. Kremer, Eva Pipiras, R. Molignier, F. Mugneret, Géraldine Joly-Helas, Serge Aho, A. Vigouroux-Castera, Anne-Claude Tabet
المصدر: Clinical genetics. 85(3)
مصطلحات موضوعية: Adult, Genetic Markers, Risk, Euchromatin, Karyotype, Context (language use), Prenatal diagnosis, Single-nucleotide polymorphism, Genetic Counseling, Biology, Polymorphism, Single Nucleotide, Young Adult, Pregnancy, Prenatal Diagnosis, Genetics, medicine, SNP, Humans, Genetic Predisposition to Disease, Prospective Studies, Genetics (clinical), Genetic Association Studies, In Situ Hybridization, Fluorescence, Chromosome Aberrations, Comparative Genomic Hybridization, medicine.diagnostic_test, Middle Aged, Prognosis, Molecular biology, Female, France, Switzerland, SNP array, Fluorescence in situ hybridization, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eed46ed557d0e0aad3c8328cc397128fTest
https://pubmed.ncbi.nlm.nih.gov/23489061Test -
2
المؤلفون: L. Monteil, G. Bourrouillou
المصدر: Donner et après... ISBN: 9782817801209
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::155735d512b87564fe78b0498f0caaffTest
https://doi.org/10.1007/978-2-8178-0121-6_13Test -
3
المؤلفون: G. Bourrouillou, M.-F. Sarramon
المصدر: Le syndrome de Turner ISBN: 9782287878541
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e826a70d79469b001050d84f2ab2cee4Test
https://doi.org/10.1007/978-2-287-87855-8_3Test -
4
المؤلفون: J. Grozdea, G. Bourrouillou, H. Vergnes, A. Brisson-Lougarre, R. Bierme, P. Colombies, J. Martin, Eliane Duchayne
المصدر: British Journal of Haematology. 77:282-286
مصطلحات موضوعية: Adult, medicine.medical_specialty, Hot Temperature, Adolescent, Neutrophils, Aneuploidy, Andrology, Internal medicine, Organelle, medicine, Humans, Child, Hematology, biology, Alkaline Phosphatase, medicine.disease, Molecular biology, Enzyme assay, Nap, Microscopy, Electron, biology.protein, Ultrastructure, Alkaline phosphatase, Down Syndrome, Trisomy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4856786ab8e1a46df5700510a529b736Test
https://doi.org/10.1111/j.1365-2141.1991.tb08571.xTest -
5
المؤلفون: S, Boulard, G, Diene, R, Barat, I, Oliver, C, Pienkowski, D, Lacombe, M C, Vincent, G, Bourrouillou, M, Tauber
المصدر: Genetic counseling (Geneva, Switzerland). 17(2)
مصطلحات موضوعية: Chromosomes, Human, Pair 12, Mosaicism, Trisomy, Magnetic Resonance Imaging, Phenotype, Growth Hormone, Karyotyping, Pituitary Gland, Humans, Abnormalities, Multiple, Female, Child, Growth Disorders, In Situ Hybridization, Fluorescence, Polycystic Ovary Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::76fbeb70db7f055077b6c524d06e24dcTest
https://pubmed.ncbi.nlm.nih.gov/16970035Test -
6
المؤلفون: Irène Ceballos-Picot, Arnold Munnich, Jeanne Amiel, Marie-Françoise Vincent, G Bourrouillou, Laurence Faivre, Muriel Holder-Espinasse, Marie-Cécile Nassogne, Sabine Marie, Cormier-Daire
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Inosine monophosphate, medicine.medical_specialty, Microcephaly, Biology, Models, Biological, chemistry.chemical_compound, Seizures, Internal medicine, Intellectual Disability, Genetics, medicine, Humans, Purine metabolism, Adenylosuccinate lyase, Genetics (clinical), Adenylosuccinate lyase deficiency, Adenylosuccinate Lyase, Facies, West Syndrome, medicine.disease, Aminoimidazole Carboxamide, Maxillofacial Abnormalities, Endocrinology, chemistry, Purines, Child, Preschool, Adenylosuccinate, Female, Letter to JMG
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::986723a49fb4d21afaf954c32af843b7Test
https://pubmed.ncbi.nlm.nih.gov/12070256Test -
7
المؤلفون: J. Grozdea, H. Vergnes, G. Bourrouillou, P. Calvas, J.P. Cambus
المصدر: Acta haematologica. 102(4)
مصطلحات موضوعية: chemistry.chemical_classification, Adult, medicine.medical_specialty, Phosphoric monoester hydrolases, Adolescent, Neutrophils, Neutrophile, Turner Syndrome, Hematology, General Medicine, Biology, medicine.disease, Alkaline Phosphatase, Endocrinology, Enzyme, Neutrophil alkaline phosphatase, chemistry, Internal medicine, Turner syndrome, medicine, Alkaline phosphatase, Humans, Female, Child, X chromosome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9ededd8c89097b40dbaef7657303068Test
https://pubmed.ncbi.nlm.nih.gov/10725764Test -
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المؤلفون: M C, Vincent, F, Heitz, J, Tricoire, G, Bourrouillou, E, Kuhlein, M, Rolland, P, Calvas
المصدر: Genetic counseling (Geneva, Switzerland). 10(1)
مصطلحات موضوعية: Adult, Fetal Growth Retardation, Velopharyngeal Insufficiency, Genotype, Chromosomes, Human, Pair 22, Infant, Newborn, Facies, Genetic Variation, Twins, Monozygotic, Aortic Coarctation, Phenotype, Pregnancy, DiGeorge Syndrome, Diseases in Twins, Humans, Abnormalities, Multiple, Female, Chromosome Deletion, In Situ Hybridization, Fluorescence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::b0a0b31286e562a39e398103bf73c84fTest
https://pubmed.ncbi.nlm.nih.gov/10191428Test -
9
المؤلفون: W. Smilovici, P. Calvas, G. Bourrouillou, Colombies P
المصدر: Prenatal Diagnosis. 10:134-136
مصطلحات موضوعية: Sex Determination Analysis, medicine.medical_specialty, Fetus, Obstetrics, business.industry, Obstetrics and Gynecology, Serum alpha-fetoprotein, First trimester, Pregnancy, In utero, Pregnancy Trimester, Second, Fetal sex, Blood plasma, medicine, Humans, Female, alpha-Fetoproteins, business, Genetics (clinical), Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::094d6f3ae033d40903c44175043e84dfTest
https://doi.org/10.1002/pd.1970100212Test -
10
المؤلفون: H. Vergnes, J. Grozdea, C. Pellegry, A. Brisson-Lougarre, Colombies P, G. Bourrouillou
المصدر: Prenatal diagnosis. 15(11)
مصطلحات موضوعية: Fetus, Chemistry, business.industry, Obstetrics and Gynecology, Antigen-Antibody Complex, medicine.disease, Alkaline Phosphatase, Amniotic Fluid, Andrology, Text mining, Immune system, Pregnancy, Immunoglobulin G, medicine, Alkaline phosphatase, Humans, Female, Down Syndrome, Trisomy, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::222bf5b8cebd8c6f8fd0da541a33af64Test
https://pubmed.ncbi.nlm.nih.gov/8606891Test