共 50 条
- [41] Trio exome/whole exome sequencing in prenatal diagnosis: Experiences from >400 cases shows a high diagnostic yield and a great benefit for pregnancy management and genetic counselling.EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 31 - 31Gabriel, H.论文数: 0 引用数: 0 h-index: 0机构: CeGaT, Tubingen, Germany CeGaT, Tubingen, GermanyWilhelm, C.论文数: 0 引用数: 0 h-index: 0机构: CeGaT, Tubingen, GermanyBattke, F.论文数: 0 引用数: 0 h-index: 0机构: CeGaT, Tubingen, Germany CeGaT, Tubingen, GermanyGoldmann, E.论文数: 0 引用数: 0 h-index: 0机构: CeGaT, Tubingen, GermanyBus, C.论文数: 0 引用数: 0 h-index: 0机构: CeGaT, Tubingen, GermanyBiskup, S.论文数: 0 引用数: 0 h-index: 0机构: CeGaT, Tubingen, Germany CeGaT, Tubingen, Germany
- [42] Hydrops-Yielding Diagnostic Results Of Prenatal Exome Sequencing (HYDROPS) Trial - Prenatal WES for NIHFAMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2021, 224 (02) : S44 - S45Al-Kouatly, Huda B.论文数: 0 引用数: 0 h-index: 0机构: Thomas Jefferson Univ, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USA Thomas Jefferson Univ, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USAMakhamreh, Mona M.论文数: 0 引用数: 0 h-index: 0机构: Thomas Jefferson Univ, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USA Thomas Jefferson Univ, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USARice, Stephanie M.论文数: 0 引用数: 0 h-index: 0机构: Thomas Jefferson Univ, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USA Thomas Jefferson Univ, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USASmith, Kelsey论文数: 0 引用数: 0 h-index: 0机构: Integrated Genet Inc, Philadelphia, PA USA Thomas Jefferson Univ, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USAHarman, Christopher论文数: 0 引用数: 0 h-index: 0机构: Univ Maryland, Sch Med, Baltimore, MD 21201 USA Thomas Jefferson Univ, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USAQuinn, Andrea论文数: 0 引用数: 0 h-index: 0机构: Thomas Jefferson Univ, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USA Thomas Jefferson Univ, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USAValcarcel, Breanna论文数: 0 引用数: 0 h-index: 0机构: Thomas Jefferson Univ, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USA Thomas Jefferson Univ, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USAFirman, Brandy论文数: 0 引用数: 0 h-index: 0机构: Thomas Jefferson Univ, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USA Thomas Jefferson Univ, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USALiu, Ruby论文数: 0 引用数: 0 h-index: 0机构: PerkinElmer, Waltham, MA USA Thomas Jefferson Univ, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USAHedge, Madhuri论文数: 0 引用数: 0 h-index: 0机构: PerkinElmer, Waltham, MA USA Thomas Jefferson Univ, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USA论文数: 引用数: h-index:机构:Berger, Seth I.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Med Genet Res Ctr, Washington, DC 20010 USA Thomas Jefferson Univ, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USA
- [43] Analysis results of 579 cases of genomic copy number variation sequencing of pregnant women in prenatal diagnosisEUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES, 2022, 26 (20) : 7572 - 7579Huang, L. -L.论文数: 0 引用数: 0 h-index: 0机构: Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R China Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R ChinaChen, H. -F.论文数: 0 引用数: 0 h-index: 0机构: Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R China Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R China论文数: 引用数: h-index:机构:Wei, Y. -N.论文数: 0 引用数: 0 h-index: 0机构: Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R China Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R ChinaTong, J. -R.论文数: 0 引用数: 0 h-index: 0机构: Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R China Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R ChinaChen, Y.论文数: 0 引用数: 0 h-index: 0机构: Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R China Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R ChinaLuo, J.论文数: 0 引用数: 0 h-index: 0机构: Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R China Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R ChinaLiao, S.论文数: 0 引用数: 0 h-index: 0机构: Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R China Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R ChinaWei, L. -L.论文数: 0 引用数: 0 h-index: 0机构: Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R China Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R ChinaDeng, L.论文数: 0 引用数: 0 h-index: 0机构: Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R China Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R ChinaSu, J. -Y.论文数: 0 引用数: 0 h-index: 0机构: Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R China Guangxi Med Univ, Affiliated Hosp 2, Dept Obstet, Nanning, Guangxi, Peoples R China
- [44] Exome Sequencing and Clinical DiagnosisJAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2020, 324 (07): : 627 - 628Friedman, Jan M.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaJones, Kenneth Lyons论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA Univ British Columbia, Dept Med Genet, Vancouver, BC, CanadaCarey, John C.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah Hlth, Dept Pediat, Salt Lake City, UT USA Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada
- [45] Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disordersBMC MEDICAL GENOMICS, 2023, 16 (01)Xintong, Zhu论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R China Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R ChinaKexin, Zhang论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Southwest Hosp, Dept Dermatol, 30 Gaotanyan St, Chongqing 400038, Peoples R China Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R ChinaJunwen, Wang论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R China Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R ChinaZiyi, Wang论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R China Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R ChinaNa, Luo论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Southwest Hosp, Dept Dermatol, 30 Gaotanyan St, Chongqing 400038, Peoples R China Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R ChinaHong, Guo论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R China Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R China
- [46] Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic toolFRONTIERS IN GENETICS, 2023, 14Tran Mau-Them, Frederic论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, France INSERM, UMR1231 GAD, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceDelanne, Julian论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Inst GIMI, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Ctr Genet, Dijon, France CHU Dijon Bourgogne, FHU TRANSLAD, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceDenomme-Pichon, Anne-Sophie论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, France INSERM, UMR1231 GAD, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceSafraou, Hana论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, France INSERM, UMR1231 GAD, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceBruel, Ange-Line论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, France INSERM, UMR1231 GAD, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceVitobello, Antonio论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, France INSERM, UMR1231 GAD, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceGarde, Aurore论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Inst GIMI, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Ctr Genet, Dijon, France CHU Dijon Bourgogne, FHU TRANSLAD, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceNambot, Sophie论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Inst GIMI, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Ctr Genet, Dijon, France CHU Dijon Bourgogne, FHU TRANSLAD, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceBourgon, Nicolas论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Inst GIMI, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Ctr Genet, Dijon, France CHU Dijon Bourgogne, FHU TRANSLAD, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceRacine, Caroline论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Inst GIMI, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Ctr Genet, Dijon, France CHU Dijon Bourgogne, FHU TRANSLAD, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceSorlin, Arthur论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR1231 GAD, Dijon, France CHU Dijon Bourgogne, Inst GIMI, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Ctr Genet, Dijon, France CHU Dijon Bourgogne, FHU TRANSLAD, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceMoutton, Sebastien论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Inst GIMI, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Ctr Genet, Dijon, France CHU Dijon Bourgogne, FHU TRANSLAD, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceMarle, Nathalie论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Lab Genet Chromosom & Mol, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceRousseau, Thierry论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Dijon Bourgogne, Serv Gynecol Obstet Med Foetale & Sterilite Conju, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceSagot, Paul论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Dijon Bourgogne, Serv Gynecol Obstet Med Foetale & Sterilite Conju, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceSimon, Emmanuel论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Dijon Bourgogne, Serv Gynecol Obstet Med Foetale & Sterilite Conju, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceVincent-Delorme, Catherine论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Clin Genet Guy Fontaine, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Lille, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceBoute, Odile论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Clin Genet Guy Fontaine, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Lille, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceColson, Cindy论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Clin Genet Guy Fontaine, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Lille, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FrancePetit, Florence论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Clin Genet Guy Fontaine, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Lille, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceLegendre, Marine论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Serv Genet Med, Bordeaux, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceNaudion, Sophie论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Serv Genet Med, Bordeaux, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceRooryck, Caroline论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Serv Genet Med, Bordeaux, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceProuteau, Clement论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Angers, Biochem & Genet Dept, Angers, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceColin, Estelle论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Angers, Biochem & Genet Dept, Angers, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceGuichet, Agnes论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Angers, Biochem & Genet Dept, Angers, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceZiegler, Alban论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Angers, Biochem & Genet Dept, Angers, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceBonneau, Dominique论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Angers, Biochem & Genet Dept, Angers, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceMorel, Godelieve论文数: 0 引用数: 0 h-index: 0机构: CHU Hop Sud, Ctr Reference Malad Rares CLAD Ouest, Serv Genet Clin, Rennes, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceFradin, Melanie论文数: 0 引用数: 0 h-index: 0机构: CHU Hop Sud, Ctr Reference Malad Rares CLAD Ouest, Serv Genet Clin, Rennes, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceLavillaureix, Alinoe论文数: 0 引用数: 0 h-index: 0机构: CHU Hop Sud, Ctr Reference Malad Rares CLAD Ouest, Serv Genet Clin, Rennes, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceQuelin, Chloe论文数: 0 引用数: 0 h-index: 0机构: CHU Hop Sud, Ctr Reference Malad Rares CLAD Ouest, Serv Genet Clin, Rennes, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FrancePasquier, Laurent论文数: 0 引用数: 0 h-index: 0机构: CHU Hop Sud, Ctr Reference Malad Rares CLAD Ouest, Serv Genet Clin, Rennes, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceOdent, Sylvie论文数: 0 引用数: 0 h-index: 0机构: CHU Hop Sud, Ctr Reference Malad Rares CLAD Ouest, Serv Genet Clin, Rennes, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceVera, Gabriella论文数: 0 引用数: 0 h-index: 0机构: Serv Genet Unite Genet Clin, Rouen, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceGoldenberg, Alice论文数: 0 引用数: 0 h-index: 0机构: Serv Genet Unite Genet Clin, Rouen, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceGuerrot, Anne-Marie论文数: 0 引用数: 0 h-index: 0机构: Serv Genet Unite Genet Clin, Rouen, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceBrehin, Anne-Claire论文数: 0 引用数: 0 h-index: 0机构: Serv Genet Unite Genet Clin, Rouen, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FrancePutoux, Audrey论文数: 0 引用数: 0 h-index: 0机构: Hop Femme Mere Enfant, Serv Genet, GH Est, Lyon, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceAttia, Jocelyne论文数: 0 引用数: 0 h-index: 0机构: HCL, Serv Gynecol Obstet, Lyon, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceAbel, Carine论文数: 0 引用数: 0 h-index: 0机构: CHU Lyon, HCL, GH Nord, Hop Croix Rousse,Serv Genet, Lyon, France CHU Lyon, Ctr Diagnost Antenatal, HCL, GH Nord,Hop Croix Rousse, Lyon, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceBlanchet, Patricia论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, CHU Montpellier, Equipe Malad Genet Enfant & Adulte, Dept Genet Med Malad Rares & Med Person, Montpellier, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceWells, Constance F.论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, CHU Montpellier, Equipe Malad Genet Enfant & Adulte, Dept Genet Med Malad Rares & Med Person, Montpellier, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceDeiller, Caroline论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, CHU Montpellier, Equipe Malad Genet Enfant & Adulte, Dept Genet Med Malad Rares & Med Person, Montpellier, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, France论文数: 引用数: h-index:机构:Mercier, Sandra论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, Nantes, France Univ Nantes, CNRS, INSERM, Inst Thorax, Nantes, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceVincent, Marie论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, Nantes, France Univ Nantes, CNRS, INSERM, Inst Thorax, Nantes, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceIsidor, Bertrand论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, Nantes, France Univ Nantes, CNRS, INSERM, Inst Thorax, Nantes, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceAmiel, Jeanne论文数: 0 引用数: 0 h-index: 0机构: Inst Malad Genet, Equipe Embryol & Genet Malformat Congenit, Inst Imagine, INSERM U1163, Paris, France Hop Necker Enfants Malad, Serv Genet Med & Clin, Paris, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, FranceDard, Rodolphe论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Intercommunal Poissy St Germaine Laye, Unite Fonct Genet Med Cytogenet Genet Med & Biol, Poissy, France CHU Dijon Bourgogne, Unite Fonctionnelle Innovat Diag Genom Maladies, Dijon, France
- [47] Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary centerSCIENTIFIC REPORTS, 2024, 14 (01):Xue, Huili论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Fujian Matern & Child Hlth Hosp, Coll Clin Med Obstet & Gynecol & Pediat, Fujian Key Lab Prenatal Diag & Birth Defect,Med Ge, 18 Daoshan Rd, Fuzhou 350001, Fujian, Peoples R China Fujian Med Univ, Fujian Matern & Child Hlth Hosp, Coll Clin Med Obstet & Gynecol & Pediat, Fujian Key Lab Prenatal Diag & Birth Defect,Med Ge, 18 Daoshan Rd, Fuzhou 350001, Fujian, Peoples R ChinaYu, Aili论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Fujian Matern & Child Hlth Hosp, Reprod Med Ctr, Coll Clin Med Obstet & Gynecol & Pediat, 18 Daoshan Rd, Fuzhou 350001, Fujian, Peoples R China Fujian Med Univ, Fujian Matern & Child Hlth Hosp, Coll Clin Med Obstet & Gynecol & Pediat, Fujian Key Lab Prenatal Diag & Birth Defect,Med Ge, 18 Daoshan Rd, Fuzhou 350001, Fujian, Peoples R ChinaChen, Lingji论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Fujian Matern & Child Hlth Hosp, Coll Clin Med Obstet & Gynecol & Pediat, Fujian Key Lab Prenatal Diag & Birth Defect,Med Ge, 18 Daoshan Rd, Fuzhou 350001, Fujian, Peoples R China Fujian Med Univ, Fujian Matern & Child Hlth Hosp, Coll Clin Med Obstet & Gynecol & Pediat, Fujian Key Lab Prenatal Diag & Birth Defect,Med Ge, 18 Daoshan Rd, Fuzhou 350001, Fujian, Peoples R ChinaGuo, Qun论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Fujian Matern & Child Hlth Hosp, Coll Clin Med Obstet & Gynecol & Pediat, Fujian Key Lab Prenatal Diag & Birth Defect,Med Ge, 18 Daoshan Rd, Fuzhou 350001, Fujian, Peoples R China Fujian Med Univ, Fujian Matern & Child Hlth Hosp, Coll Clin Med Obstet & Gynecol & Pediat, Fujian Key Lab Prenatal Diag & Birth Defect,Med Ge, 18 Daoshan Rd, Fuzhou 350001, Fujian, Peoples R China论文数: 引用数: h-index:机构:Lin, Na论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Fujian Matern & Child Hlth Hosp, Coll Clin Med Obstet & Gynecol & Pediat, Fujian Key Lab Prenatal Diag & Birth Defect,Med Ge, 18 Daoshan Rd, Fuzhou 350001, Fujian, Peoples R China Fujian Med Univ, Fujian Matern & Child Hlth Hosp, Coll Clin Med Obstet & Gynecol & Pediat, Fujian Key Lab Prenatal Diag & Birth Defect,Med Ge, 18 Daoshan Rd, Fuzhou 350001, Fujian, Peoples R ChinaChen, Xuemei论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Fujian Matern & Child Hlth Hosp, Coll Clin Med Obstet & Gynecol & Pediat, Fujian Key Lab Prenatal Diag & Birth Defect,Med Ge, 18 Daoshan Rd, Fuzhou 350001, Fujian, Peoples R China Fujian Med Univ, Fujian Matern & Child Hlth Hosp, Coll Clin Med Obstet & Gynecol & Pediat, Fujian Key Lab Prenatal Diag & Birth Defect,Med Ge, 18 Daoshan Rd, Fuzhou 350001, Fujian, Peoples R ChinaXu, Liangpu论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Fujian Matern & Child Hlth Hosp, Coll Clin Med Obstet & Gynecol & Pediat, Fujian Key Lab Prenatal Diag & Birth Defect,Med Ge, 18 Daoshan Rd, Fuzhou 350001, Fujian, Peoples R China Fujian Med Univ, Fujian Matern & Child Hlth Hosp, Coll Clin Med Obstet & Gynecol & Pediat, Fujian Key Lab Prenatal Diag & Birth Defect,Med Ge, 18 Daoshan Rd, Fuzhou 350001, Fujian, Peoples R ChinaHuang, Hailong论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Fujian Matern & Child Hlth Hosp, Coll Clin Med Obstet & Gynecol & Pediat, Fujian Key Lab Prenatal Diag & Birth Defect,Med Ge, 18 Daoshan Rd, Fuzhou 350001, Fujian, Peoples R China Fujian Med Univ, Fujian Matern & Child Hlth Hosp, Coll Clin Med Obstet & Gynecol & Pediat, Fujian Key Lab Prenatal Diag & Birth Defect,Med Ge, 18 Daoshan Rd, Fuzhou 350001, Fujian, Peoples R China
- [48] Severe ultrasound abnormalities: prenatal whole exome sequencing to unravel a diagnosis before birthEUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 158 - 159Gijsbers, A. C. J.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Nijmegen, Netherlands Radboudumc, Nijmegen, NetherlandsSmeets, D.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Nijmegen, Netherlands Radboudumc, Nijmegen, NetherlandsPfundt, R.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Nijmegen, Netherlands Radboudumc, Nijmegen, NetherlandsKamsteeg, E.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Nijmegen, Netherlands Radboudumc, Nijmegen, NetherlandsFeenstra, I.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Nijmegen, Netherlands Radboudumc, Nijmegen, NetherlandsWillemsen, M.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Nijmegen, Netherlands Radboudumc, Nijmegen, Netherlandsvan der Burgt, I.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Nijmegen, Netherlands Radboudumc, Nijmegen, NetherlandsSikkel, E.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Nijmegen, Netherlands Radboudumc, Nijmegen, NetherlandsYntema, H. G.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Nijmegen, Netherlands Radboudumc, Nijmegen, NetherlandsNeveling, K.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Nijmegen, Netherlands Radboudumc, Nijmegen, NetherlandsNelen, M.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Nijmegen, Netherlands Radboudumc, Nijmegen, Netherlands
- [49] Exome and genome sequencing as time effective methods for prenatal diagnosis: overview of 679 patientsEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1320 - 1320Pereira, Catarina论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Rostock, Germany CENTOGENE GmbH, Rostock, GermanyAlmeida, Ligia论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Rostock, Germany CENTOGENE GmbH, Rostock, GermanyReyes, Alejandra论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Rostock, Germany CENTOGENE GmbH, Rostock, GermanyPaknia, Omid论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Rostock, Germany CENTOGENE GmbH, Rostock, GermanyBertoli-Avella, Aida论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Rostock, Germany CENTOGENE GmbH, Rostock, GermanyBasto, Jorge Pinto论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Rostock, Germany CENTOGENE GmbH, Rostock, GermanyBauer, Peter论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Rostock, Germany CENTOGENE GmbH, Rostock, Germany
- [50] Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disordersBMC Medical Genomics, 16Zhu Xintong论文数: 0 引用数: 0 h-index: 0机构: Army Medical University,Department of Medical Genetics, College of Basic Medical ScienceZhang Kexin论文数: 0 引用数: 0 h-index: 0机构: Army Medical University,Department of Medical Genetics, College of Basic Medical ScienceWang Junwen论文数: 0 引用数: 0 h-index: 0机构: Army Medical University,Department of Medical Genetics, College of Basic Medical ScienceWang Ziyi论文数: 0 引用数: 0 h-index: 0机构: Army Medical University,Department of Medical Genetics, College of Basic Medical ScienceLuo Na论文数: 0 引用数: 0 h-index: 0机构: Army Medical University,Department of Medical Genetics, College of Basic Medical ScienceGuo Hong论文数: 0 引用数: 0 h-index: 0机构: Army Medical University,Department of Medical Genetics, College of Basic Medical Science