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- [1] Phenotypic expansion in DDX3X - a common cause of intellectual disability in femalesANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2018, 5 (10): : 1277 - 1285Wang, Xia论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAPosey, Jennifer E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USARosenfeld, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USABacino, Carlos A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAScaglia, Fernando论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAImmken, LaDonna论文数: 0 引用数: 0 h-index: 0机构: Specially Children, Austin, TX USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAHarris, Jill M.论文数: 0 引用数: 0 h-index: 0机构: Specially Children, Austin, TX USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAHickey, Scott E.论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Pediat Clin, Columbus, OH 43210 USA Nationwide Childrens Hosp, Div Mol & Human Genet, Columbus, OH USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAMosher, Theresa M.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Div Mol & Human Genet, Columbus, OH USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USASlavotinek, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Div Genet, Dept Pediat, San Francisco, CA 94143 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAZhang, Jing论文数: 0 引用数: 0 h-index: 0机构: Baylor Genet, Houston, TX USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USABeuten, Joke论文数: 0 引用数: 0 h-index: 0机构: Baylor Genet, Houston, TX USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USALeduc, Magalie S.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAHe, Weimin论文数: 0 引用数: 0 h-index: 0机构: Baylor Genet, Houston, TX USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAVetrini, Francesco论文数: 0 引用数: 0 h-index: 0机构: Baylor Genet, Houston, TX USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAWalkiewicz, Magdalena A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USABi, Weimin论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAXiao, Rui论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USALiu, Pengfei论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAShao, Yunru论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAGezdirici, Alper论文数: 0 引用数: 0 h-index: 0机构: Kanuni Sultan Suleyman Training & Res Hosp, Dept Genet, Istanbul, Turkey Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAGulec, Elif Y.论文数: 0 引用数: 0 h-index: 0机构: Kanuni Sultan Suleyman Training & Res Hosp, Dept Genet, Istanbul, Turkey Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAJiang, Yunyun论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USADarilek, Sandra A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAHansen, Adam W.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAKhayat, Michael M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAPehlivan, Davut论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Neurol Sect, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAPiard, Juliette论文数: 0 引用数: 0 h-index: 0机构: Univ Franche Comte, Ctr Genet Humaine, Besancon, France Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAMuzny, Donna M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAHanchard, Neil论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USABelmont, John W.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAVan Maldergem, Lionel论文数: 0 引用数: 0 h-index: 0机构: Univ Franche Comte, Ctr Genet Humaine, Besancon, France Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAGibbs, Richard A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAEldomery, Mohammad K.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAAkdemir, Zeynep C.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAAdesina, Adekunle M.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Pathol, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAChen, Shan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USALee, Yi-Chien论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USALee, Brendan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USALupski, James R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAEng, Christine M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAXia, Fan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAYang, Yaping论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAGraham, Brett H.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Indiana Univ Sch Med, Med & Mol Genet, Indianapolis, IN 46202 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAMoretti, Paolo论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Neurol, Houston, TX 77030 USA Michael E DeBakey VA Med Ctr, Houston, TX USA Univ Utah, Neurol, Salt Lake City, UT USA George E Wahlen VA Med Ctr, Salt Lake City, UT USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA
- [2] Further delineation of DDX3X syndromeCLINICAL DYSMORPHOLOGY, 2019, 28 (03) : 149 - 151Chanes, Nicolas M.论文数: 0 引用数: 0 h-index: 0机构: Louisiana State Univ, Baton Rouge, LA 70803 USA Louisiana State Univ, Baton Rouge, LA 70803 USAWong, Joaquin论文数: 0 引用数: 0 h-index: 0机构: LSU Hlth Sci Ctr & Childrens Hosp, Dept Neurol, New Orleans, LA 70118 USA Louisiana State Univ, Baton Rouge, LA 70803 USALacassie, Yves论文数: 0 引用数: 0 h-index: 0机构: LSU Hlth Sci Ctr & Childrens Hosp, Dept Pediat, Div Genet, 200 Henry Clay Ave, New Orleans, LA 70118 USA Louisiana State Univ, Baton Rouge, LA 70803 USA
- [3] DDX3X mutations in 11 french patients with intellectual disability : new phenotypic featuresEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 217 - 218Ruault, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, Montpellier, France CHU Montpellier, Serv Genet Clin, Montpellier, France Univ Montpellier, Montpellier, FranceCoubes, C.论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Serv Genet Clin, Montpellier, France Univ Montpellier, Montpellier, FranceCharles, P.论文数: 0 引用数: 0 h-index: 0机构: Pitie Salpetriere, Serv Genet, Paris, France Univ Montpellier, Montpellier, FranceVincent, M.论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Clin, Nantes, France Univ Montpellier, Montpellier, FranceNizon, M.论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Clin, Nantes, France Univ Montpellier, Montpellier, FranceMignot, C.论文数: 0 引用数: 0 h-index: 0机构: Pitie Salpetriere, Serv Genet, Paris, France Univ Montpellier, Montpellier, FranceDelahaye-Duriez, A.论文数: 0 引用数: 0 h-index: 0机构: Serv Genet Clin Robert Debre, Paris, France Univ Montpellier, Montpellier, FranceThauvin, C.论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon, Ctr Genet, Dijon, France Univ Montpellier, Montpellier, FranceJean-Marcais, N.论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon, Ctr Genet, Dijon, France Univ Montpellier, Montpellier, FranceGarde, A.论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon, Ctr Genet, Dijon, France Univ Montpellier, Montpellier, FranceFaivre, L.论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon, Ctr Genet, Dijon, France Univ Montpellier, Montpellier, FranceAlembik, Y.论文数: 0 引用数: 0 h-index: 0机构: CHU Strasbourg, Serv Genet, Strasbourg, France Univ Montpellier, Montpellier, FranceGouronc, A.论文数: 0 引用数: 0 h-index: 0机构: CHU Strasbourg, Serv Genet, Strasbourg, France Univ Montpellier, Montpellier, FranceDurand, B.论文数: 0 引用数: 0 h-index: 0机构: CHU Strasbourg, Serv Genet, Strasbourg, France Univ Montpellier, Montpellier, FranceNava, C.论文数: 0 引用数: 0 h-index: 0机构: Pitie Salpetriere, Serv Genet, Paris, France Univ Montpellier, Montpellier, FranceKeren, B.论文数: 0 引用数: 0 h-index: 0机构: Pitie Salpetriere, Serv Genet, Paris, France Univ Montpellier, Montpellier, FranceDepienne, C.论文数: 0 引用数: 0 h-index: 0机构: Pitie Salpetriere, Serv Genet, Paris, France Univ Montpellier, Montpellier, FranceThem, F. Tran Mau论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon, Ctr Genet, Dijon, France Univ Montpellier, Montpellier, FranceWillems, M.论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Serv Genet Clin, Montpellier, France Univ Montpellier, Montpellier, FranceGerard, B.论文数: 0 引用数: 0 h-index: 0机构: CHU Strasbourg, Serv Genet, Strasbourg, France Univ Montpellier, Montpellier, FranceGenevieve, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, Montpellier, France CHU Montpellier, Serv Genet Clin, Montpellier, France Univ Montpellier, Montpellier, France
- [4] Determination of the degree of contribution of mutation in DDX3X to intellectual disability in the South Carolina populationABSTRACTS OF PAPERS OF THE AMERICAN CHEMICAL SOCIETY, 2016, 251Holbrooks, Christina论文数: 0 引用数: 0 h-index: 0机构: Erskine Coll, Mooresville, NC USA Erskine Coll, Mooresville, NC USAHolloway, L.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA Erskine Coll, Mooresville, NC USAThomas, Howard论文数: 0 引用数: 0 h-index: 0机构: Erskine Coll, Mooresville, NC USA Erskine Coll, Mooresville, NC USASchwartz, C. E.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA Erskine Coll, Mooresville, NC USA
- [5] Gene Therapy Development for DDX3X SyndromeMOLECULAR THERAPY, 2023, 31 (04) : 763 - 764Boitnott, Andrea论文数: 0 引用数: 0 h-index: 0机构: UT SouthWestern Med Ctr Dallas, Dallas, TX USA UT SouthWestern Med Ctr Dallas, Dallas, TX USAChen, Xin论文数: 0 引用数: 0 h-index: 0机构: UT SouthWestern Med Ctr Dallas, Dallas, TX USA UT SouthWestern Med Ctr Dallas, Dallas, TX USAGray, Steven J.论文数: 0 引用数: 0 h-index: 0机构: UT SouthWestern Med Ctr Dallas, Dallas, TX USA UT SouthWestern Med Ctr Dallas, Dallas, TX USA
- [6] Gene Therapy Development for DDX3X SyndromeMOLECULAR THERAPY, 2024, 32 (04) : 484 - 484Boitnott, Andrea论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dallas, TX USA UT Southwestern Med Ctr, Dallas, TX USAJiji, Anjala论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dallas, TX USA UT Southwestern Med Ctr, Dallas, TX USAHu, Yuhui论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dallas, TX USA UT Southwestern Med Ctr, Dallas, TX USAChen, Xin论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dallas, TX USA UT Southwestern Med Ctr, Dallas, TX USAGray, Steven J.论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dallas, TX USA UT Southwestern Med Ctr, Dallas, TX USA
- [7] A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case reportItalian Journal of Pediatrics, 47Giada Moresco论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Ca′ Granda Ospedale Maggiore Policlinico,Research Laboratories Coordination UnitJole Costanza论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Ca′ Granda Ospedale Maggiore Policlinico,Research Laboratories Coordination UnitCarlo Santaniello论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Ca′ Granda Ospedale Maggiore Policlinico,Research Laboratories Coordination UnitOrnella Rondinone论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Ca′ Granda Ospedale Maggiore Policlinico,Research Laboratories Coordination UnitFederico Grilli论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Ca′ Granda Ospedale Maggiore Policlinico,Research Laboratories Coordination UnitElisabetta Prada论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Ca′ Granda Ospedale Maggiore Policlinico,Research Laboratories Coordination UnitSimona Orcesi论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Ca′ Granda Ospedale Maggiore Policlinico,Research Laboratories Coordination UnitIlaria Coro论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Ca′ Granda Ospedale Maggiore Policlinico,Research Laboratories Coordination UnitAnna Pichiecchio论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Ca′ Granda Ospedale Maggiore Policlinico,Research Laboratories Coordination UnitPaola Marchisio论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Ca′ Granda Ospedale Maggiore Policlinico,Research Laboratories Coordination UnitMonica Miozzo论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Ca′ Granda Ospedale Maggiore Policlinico,Research Laboratories Coordination UnitLaura Fontana论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Ca′ Granda Ospedale Maggiore Policlinico,Research Laboratories Coordination UnitDonatella Milani论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Ca′ Granda Ospedale Maggiore Policlinico,Research Laboratories Coordination Unit
- [8] De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disabilityAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (04) : 570 - 578Nicola, Pantelis论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp South Manchester NHS Fdn Trust, Manchester, Lancs, England Manchester Ctr Genom Med, Manchester, Lancs, England Univ Hosp South Manchester NHS Fdn Trust, Manchester, Lancs, EnglandBlackburn, Patrick R.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN USA Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA Univ Hosp South Manchester NHS Fdn Trust, Manchester, Lancs, EnglandRasmussen, Kristen J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA Univ Hosp South Manchester NHS Fdn Trust, Manchester, Lancs, EnglandBertsch, Nicole L.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN USA Univ Hosp South Manchester NHS Fdn Trust, Manchester, Lancs, EnglandKlee, Eric W.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN USA Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA Mayo Clin, Dept Clin Genom, Rochester, MN USA Univ Hosp South Manchester NHS Fdn Trust, Manchester, Lancs, EnglandHasadsri, Linda论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA Univ Hosp South Manchester NHS Fdn Trust, Manchester, Lancs, EnglandPichurin, Pavel N.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN USA Univ Hosp South Manchester NHS Fdn Trust, Manchester, Lancs, EnglandRankin, Julia论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Dept Clin Genet, Exeter, Devon, England Univ Hosp South Manchester NHS Fdn Trust, Manchester, Lancs, EnglandRaymond, F. Lucy论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Cambridge Inst Med Res, Cambridge, England Univ Hosp South Manchester NHS Fdn Trust, Manchester, Lancs, EnglandClayton-Smith, Jill论文数: 0 引用数: 0 h-index: 0机构: Manchester Ctr Genom Med, Manchester, Lancs, England Univ Manchester, Div Evolut & Genom Sci, Sch Biol Sci, Manchester, Lancs, England Univ Hosp South Manchester NHS Fdn Trust, Manchester, Lancs, England
- [9] A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case reportITALIAN JOURNAL OF PEDIATRICS, 2021, 47 (01)Moresco, Giada论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, Milan, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, Milan, ItalyCostanza, Jole论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, Milan, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, Milan, ItalySantaniello, Carlo论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, Milan, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, Milan, ItalyRondinone, Ornella论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, Milan, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, Milan, ItalyGrilli, Federico论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda, Osped Maggiore Policlin, Milan, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, Milan, ItalyPrada, Elisabetta论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda, Osped Maggiore Policlin, Milan, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, Milan, Italy论文数: 引用数: h-index:机构:Coro, Ilaria论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda, Osped Maggiore Policlin, Milan, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, Milan, Italy论文数: 引用数: h-index:机构:Marchisio, Paola论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda, Osped Maggiore Policlin, Milan, Italy Univ Milan, Dept Pathophysiol & Transplantat, Milan, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, Milan, ItalyMiozzo, Monica论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, Milan, Italy Univ Milan, Dept Hlth Sci, Milan, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, Milan, ItalyFontana, Laura论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, Milan, Italy Univ Milan, Dept Hlth Sci, Milan, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, Milan, ItalyMilani, Donatella论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda, Osped Maggiore Policlin, Milan, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, Milan, Italy
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