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1
المؤلفون: Aude Tessier, Férechté Encha-Razavi, Judite de Oliveira, Christel Thauvin-Robinet, Marie-Paule Beaujard, Valérie Malan, Philippe Roth, Bettina Bessières, Julie Steffann, Ange-Line Bruel, Laurence Faivre, Tania Attié-Bitach, Lucile Boutaud, Amale Achaiaa
مصطلحات موضوعية: Fetus, Pathology, medicine.medical_specialty, business.industry, Hydrothorax, medicine, medicine.disease, business, Phenotype
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b9047e0d7fbe060c2f0e8d74c323f6cd
https://doi.org/10.1111/cge.13840/v2/response1 -
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المؤلفون: Philippe Roth, Ange-Line Bruel, Aude Tessier, Tania Attié-Bitach, Laurence Faivre, Férechté Encha-Razavi, Julie Steffann, Christel Thauvin-Robinet, Judite de Oliveira, Amale Achaiaa, Lucile Boutaud, Marie-Paule Beaujard, Valérie Malan, Bettina Bessières
المصدر: Clinical geneticsREFERENCES. 98(6)
مصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Ubiquitin-Protein Ligases, macromolecular substances, 030105 genetics & heredity, Bioinformatics, Chylothorax, 03 medical and health sciences, Esophagus, Fetus, Prenatal Diagnosis, Genetics, Medicine, Humans, Genetics (clinical), Comparative Genomic Hybridization, Hypospadias, Hypertelorism, business.industry, Infant, Newborn, nutritional and metabolic diseases, Genetic Diseases, X-Linked, medicine.disease, Phenotype, Cleft Palate, 030104 developmental biology, embryonic structures, Mutation (genetic algorithm), Hydrothorax, GBBB SYNDROME, Female, business
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المؤلفون: Marie-Paule Beaujard, Philippe Roth, Laurent Salomon, V. Meyer, Yves Ville, Jean-Pierre Bernard
المصدر: Gynécologie Obstétrique & Fertilité. 44:101-105
مصطلحات موضوعية: Gynecology, Down syndrome screening, medicine.medical_specialty, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics and Gynecology, General Medicine, 03 medical and health sciences, First trimester, 0302 clinical medicine, Risk groups, Reproductive Medicine, Prima facie, Nuchal translucency, medicine, 030212 general & internal medicine, business
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المؤلفون: Laurent Salomon, Marianne Leruez, Sophie Dreux, Valérie Meyer, Morgane Valentin, Marie Paule Beaujard, Yves Ville, Isabelle Czerkiewicz, Françoise Muller
المصدر: Prenatal Diagnosis. 35:244-248
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Down syndrome, Creatinine, business.industry, Multiple of the median, Obstetrics and Gynecology, Renal function, Gestational age, medicine.disease, Gastroenterology, Blood proteins, chemistry.chemical_compound, chemistry, Internal medicine, medicine, Trisomy, business, Genetics (clinical), Kidney disease
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5
المؤلفون: Michel Vekemans, Laurent Salomon, Serge Romana, Didier Goidin, Philippe Roth, Jean-Michel Lapierre, Julien Stirnemann, Catherine Turleau, Matthieu Egloff, Bettina Bessières, Marie-Paule Beaujard, Yves Ville, Jean-Pierre Bernard, Marie-Laure Maurin, Valérie Malan, Tania Attié-Bitach
المصدر: Cytogenetic and Genome Research. 147:103-110
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, DNA Copy Number Variations, Microarray, Genetic counseling, Genetic Counseling, 030105 genetics & heredity, Biology, Bioinformatics, Sensitivity and Specificity, Ultrasonography, Prenatal, 03 medical and health sciences, Fetus, 0302 clinical medicine, Pregnancy, Genetics, medicine, Humans, Genetic Testing, Copy-number variation, Stage (cooking), Molecular Biology, Genetics (clinical), Genetic testing, Chromosome Aberrations, Comparative Genomic Hybridization, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, Obstetrics, Microarray analysis techniques, Reproducibility of Results, Microarray Analysis, medicine.disease, Fetal Diseases, Karyotyping, Female, France, Comparative genomic hybridization
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المؤلفون: Marie-Paule Beaujard, A. Carrier, Jeanne Amiel, Valérie Malan, S. Fontaine, M.C. de Blois, Catherine Turleau, Mathilde Nizon, Julia Tantau, Michel Vekemans, Caroline Michot, Yves Ville, Jean-Pierre Bernard, Tania Attié-Bitach, M. Essaoui
المصدر: European Journal of Medical Genetics. 56:502-505
مصطلحات موضوعية: Adult, medicine.medical_specialty, Amniotic fluid, Genetic counseling, Intrauterine growth restriction, Chromosome Disorders, Prenatal diagnosis, Biology, Umbilical cord, Andrology, Pregnancy, Prenatal Diagnosis, Internal medicine, Diseases in Twins, Genetics, medicine, Humans, Genetics (clinical), Comparative Genomic Hybridization, Fetus, Fetal Growth Retardation, Mosaicism, Karyotype, Twins, Monozygotic, General Medicine, Amniotic Fluid, medicine.disease, Cleft Palate, Phenotype, Endocrinology, medicine.anatomical_structure, Gestation, Female, Chromosome Deletion, Chromosomes, Human, Pair 18, Microsatellite Repeats
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7
المؤلفون: Marie-France Portnoï, Marie-Paule Beaujard, Jean-Pierre Siffroi, Bruno Carbonne, Marc Dommergues, Sandra Chantot-Bastaraud, Boris Keren, Sylvie Cabrol, Capucine Hyon, Sophie Christin-Maitre, Jonathan I. Levy
المصدر: European Journal of Medical Genetics. 55:635-640
مصطلحات موضوعية: Adult, medicine.medical_specialty, Monosomy, Turner Syndrome, Genetic Counseling, Chromosomal translocation, Biology, Y chromosome, Polymorphism, Single Nucleotide, Short stature, Translocation, Genetic, Pregnancy, Internal medicine, Turner syndrome, Genetics, medicine, Humans, Genetics (clinical), Gynecology, Chromosomes, Human, X, Chromosomes, Human, Y, Mosaicism, Infant, Newborn, Cytogenetics, Karyotype, General Medicine, medicine.disease, Endocrinology, Noonan syndrome, Female, medicine.symptom
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8
المؤلفون: Jean-Pierre Siffroi, Marie-Paule Vazquez, Philippe Mabboux, Capucine Hyon, Essam Al Ageeli, Marie-France Portnoï, Sandra Chantot-Bastaraud, Arnaud Picard, Marie-Paule Beaujard, Sandrine Marlin
المصدر: European Journal of Medical Genetics. 54:287-291
مصطلحات موضوعية: Adolescent, Locus (genetics), Classical Lissencephalies and Subcortical Band Heterotopias, Biology, Translocation, Genetic, Gene Duplication, Gene duplication, Genetics, medicine, Humans, YWHAE, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome Aberrations, Chromosomes, Human, X, Comparative Genomic Hybridization, Psychomotor retardation, Syndrome, General Medicine, Subtelomere, Hypotonia, Chromosome Banding, 14-3-3 Proteins, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Speech delay, Female, medicine.symptom, Microtubule-Associated Proteins, Chromosomes, Human, Pair 17, Comparative genomic hybridization
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المؤلفون: Antoine Poli, Laurent Salomon, Yves Ville, Marie-Paule Beaujard, Valérie Malan, Serge Romana, Marie-Laure Maurin, Matthieu Egloff
المصدر: Morphologie. 102:155
مصطلحات موضوعية: Anatomy
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10
المؤلفون: Morgane, Valentin, Françoise, Muller, Marie Paule, Beaujard, Sophie, Dreux, Isabelle, Czerkiewicz, Valérie, Meyer, Marianne, Leruez, Yves, Ville, Laurent J, Salomon
المصدر: Prenatal diagnosis. 35(3)
مصطلحات موضوعية: Adult, Gestational Age, Ultrasonography, Prenatal, Cohort Studies, Pregnancy Complications, Pregnancy Trimester, First, Young Adult, Pregnancy, Case-Control Studies, Creatinine, Prenatal Diagnosis, Humans, Pregnancy-Associated Plasma Protein-A, Chorionic Gonadotropin, beta Subunit, Human, False Positive Reactions, Female, Down Syndrome, Renal Insufficiency, Chronic, Nuchal Translucency Measurement, Biomarkers, Maternal Age, Retrospective Studies