المؤلفون: CELSE, Tristan, TINGAUD-SEQUEIRA, Angele, DIETERICH, Klaus, SIEGFRIED, Geraldine, LECAIGNEC, Cédric, BOUNEAU, Laurence, FANNEMEL, Madeleine, SALAUN, Gaelle, LAFFARGUE, Fanny, MARTINEZ, Guillaume, SATRE, Véronique, VIEVILLE, Gaelle, BIDART, Marie, SOUSSI ZANDER, Cecilia, TURESSON, Ann-Charlotte, SPLITT, Miranda, REBOUL, Dorothee, CHIESA, Jean, KHAU VAN KIEN, Philippe, GODIN, Manon, GRUCHY, Nicolas, GOEL, Himanshu, PALMER, Elizabeth E, DEMETRIOU, Kalliope, SHALHOUB, Carolyn, ROORYCK-THAMBO, Caroline, COUTTON, Charles

مصطلحات موضوعية: Humans, Animals, Goldenhar Syndrome, Zebrafish, Cleft Lip, DNA Copy Number Variations, Cleft Palate, Otx Transcription Factors, Sciences du Vivant [q-bio]

Relation: https://oskar-bordeaux.fr/handle/20.500.12278/184822

الاتاحة: https://oskar-bordeaux.fr/handle/20.500.12278/184822
https://hdl.handle.net/20.500.12278/184822
https://doi.org/10.1136/jmg-2022-108678

المؤلفون: Celse, Tristan, Tingaud-Sequeira, Angèle, Satre, Véronique, Vieville, Gaelle, Bidart, Marie, Zander, Cecilia Soussi, Turesson, Ann-Charlotte, Splitt, Miranda, Reboul, Dorothee, Chiesa, Jean, Van Kien, Philippe Khau, Godin, Manon, Dieterich, Klaus, Gruchy, Nicolas, Goel, Himanshu, Palmer, E, Demetriou, K, Shalhoub, C, Rooryck-Thambo, C, Coutton, C, Siegfried, Geraldine, Lecaignec, Cédric, Bouneau, Laurence, Fannemel, Madeleine, Salaun, Gaelle, Laffargue, Fanny, Martinez, Guillaume

المساهمون: The University of Newcastle. College of Health, Medicine & Wellbeing, School of Medicine and Public Health

مصطلحات موضوعية: congenital, hereditary, neonatal diseases and abnormalities, gene duplication, genomics, human genetics

Relation: Journal of Medical Genetics Vol. 60, Issue 6, p. 620-626; http://hdl.handle.net/1959.13/1491881; uon:53051

الاتاحة: http://hdl.handle.net/1959.13/1491881

المؤلفون: Gaillard, Jean-Baptiste, Chiesa, Jean, Reboul, Dorothée, Arnaud, Anne, Brun, Sophie, Donadio, Daniel, Exbrayat, Carole, Wickenhauser, Stefan, Bourquard, Pascal, Jourdan, Eric, Lavabre-Bertrand, Thierry

المصدر: Leukemia & Lymphoma ; volume 53, issue 2, page 336-337 ; ISSN 1042-8194 1029-2403

الاتاحة: http://dx.doi.org/10.3109/10428194.2011.608453
http://www.tandfonline.com/doi/pdf/10.3109/10428194.2011.608453

المؤلفون: Mousty, Eve, Issa, Sarah, Grosjean, Frédéric, Col, Jean-Yves, Khau van Kien, Philippe, Perez, Marie-Josée, Petrov, Yuliya, Reboul, Dorothée, Faubert, Emmanuelle, Le Gac, Marie-Pascale, Bondurand, Nadège, Chiesa, Jean, Pingault, Véronique

المساهمون: Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre Hospitalier Henri Duffaut (Avignon), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut des Biomolécules Max Mousseron [Pôle Chimie Balard] (IBMM), Ecole Nationale Supérieure de Chimie de Montpellier (ENSCM)-Institut de Chimie du CNRS (INC)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Herrada, Anthony

المصدر: Prenatal Diagnosis
Prenatal Diagnosis, 2015, 35 (13), pp.1379-1381. ⟨10.1002/pd.4703⟩
Prenatal Diagnosis, Wiley, 2015, 35 (13), pp.1379-1381. ⟨10.1002/pd.4703⟩

مصطلحات موضوعية: MESH: Waardenburg Syndrome, MESH: Humans, MESH: Pregnancy, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, MESH: Young Adult, MESH: Nuchal Translucency Measurement, MESH: PAX3 Transcription Factor, MESH: Paired Box Transcription Factors, MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, MESH: Homozygote

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1bc257d79efd17617aee2852737e099d
https://hal.umontpellier.fr/hal-03579374

المؤلفون: Lunel, Françoise, Cresta, Pascale, Vitour, Damien, Payan, Christopher, Dumont, Bruno, Frangeul, L., Reboul, Dorothée, Brault, Christine, Piette, Jean-Charles, Huraux, Jean-Marie

المساهمون: Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: ISSN: 0270-9139.

مصطلحات موضوعية: MESH: Base Sequence, MESH: DNA, MESH: RNA, Viral, MESH: Reagent Kits, Diagnostic, MESH: Reproducibility of Results, MESH: Reverse Transcriptase Polymerase Chain Reaction, MESH: Sensitivity and Specificity, MESH: Gene Amplification, MESH: Genotype, MESH: Hepacivirus, MESH: Hepatitis C, MESH: Hepatitis C Antibodies, MESH: Humans, MESH: Interferons, MESH: Prospective Studies, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology

Relation: info:eu-repo/semantics/altIdentifier/pmid/9918931; pasteur-03252067; https://pasteur.hal.science/pasteur-03252067; PUBMED: 9918931

الاتاحة: https://pasteur.hal.science/pasteur-03252067
https://doi.org/10.1002/hep.510290237

المؤلفون: Gaillard, Jean-Baptiste, Chiesa, Jean, Reboul, Dorothée, Arnaud, Anne, Brun, Sophie, Donadio, Daniel, Exbrayat, Carole, Wickenhauser, Stefan, Bourquard, Pascal, Jourdan, Eric, Lavabre-Bertrand, Thierry

المصدر: Leukemia & Lymphoma; Feb2012, Vol. 53 Issue 2, p336-337, 2p, 1 Chart

مصطلحات موضوعية: KARYOTYPES, ACUTE myeloid leukemia, P53 protein, MYELOID leukemia, PROGNOSIS, CHROMOSOME abnormalities