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- [1] GENETIC TESTING ACMG guides on the interpretation of sequence variantsNATURE REVIEWS GENETICS, 2015, 16 (05) : 257 - 257Bahcall, Orli G.论文数: 0 引用数: 0 h-index: 0
- [2] The ACMG/AMP reputable source criteria for the interpretation of sequence variantsGENETICS IN MEDICINE, 2018, 20 (12) : 1687 - 1688Biesecker, Leslie G.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAHarrison, Steven M.论文数: 0 引用数: 0 h-index: 0机构: Partners HealthCare Lab Mol Med, Boston, MA 02115 USA Harvard Med Sch, Boston, MA 02115 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA
- [3] The ACMG/AMP reputable source criteria for the interpretation of sequence variants ResponseGENETICS IN MEDICINE, 2018, 20 (12) : 1689 - 1690Richards, C. Sue论文数: 0 引用数: 0 h-index: 0机构: Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Knight Diagnost Labs, Portland, OR 97201 USA Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Knight Diagnost Labs, Portland, OR 97201 USAAziz, Nazneen论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente, Oakland, CA USA Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Knight Diagnost Labs, Portland, OR 97201 USABale, Sherri论文数: 0 引用数: 0 h-index: 0机构: GeneDX, Gaithersburg, MD USA Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Knight Diagnost Labs, Portland, OR 97201 USABick, David论文数: 0 引用数: 0 h-index: 0机构: HudsonAlpha Inst Biotechnol, Huntsville, AL USA Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Knight Diagnost Labs, Portland, OR 97201 USADas, Soma论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Clin Mol Genet Lab, Dept Human Genet, Chicago, IL 60637 USA Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Knight Diagnost Labs, Portland, OR 97201 USAGastier-Foster, Julie论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Coll Med, Nationwide Childrens Hosp, Inst Genom Med,Clin Lab, Columbus, OH 43210 USA Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Knight Diagnost Labs, Portland, OR 97201 USAGrody, Wayne W.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Sch Med, Mol Diagnost Labs, Los Angeles, CA USA Univ Calif Los Angeles, Sch Med, Clin Genom Ctr, Los Angeles, CA USA Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Knight Diagnost Labs, Portland, OR 97201 USAHegde, Madhuri论文数: 0 引用数: 0 h-index: 0机构: Perkin Elmer, Global Lab Serv Diagnost, Waltham, MA USA Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Knight Diagnost Labs, Portland, OR 97201 USALyon, Elaine论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, ARUP Inst Clin & Expt Pathol, Dept Pathol, Salt Lake City, UT USA Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Knight Diagnost Labs, Portland, OR 97201 USASpector, Elaine论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Med Sch, Childrens Hosp Colorado, Dept Pediat,Mol Genet Lab, Denver, CO 80202 USA Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Knight Diagnost Labs, Portland, OR 97201 USAVoelkerding, Karl论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Pathol, ARUP Labs, Salt Lake City, UT USA Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Knight Diagnost Labs, Portland, OR 97201 USARehm, Heidi L.论文数: 0 引用数: 0 h-index: 0机构: Brigham & Womens Hosp, Partners Lab Mol Med, 75 Francis St, Boston, MA 02115 USA Brigham & Womens Hosp, Dept Pathol, 75 Francis St, Boston, MA 02115 USA Harvard Med Sch, Boston, MA USA Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Knight Diagnost Labs, Portland, OR 97201 USA
- [4] Tailoring the ACMG/AMP sequence variant interpretation guidelines to the unique aspects of germline ACADVL variantsMOLECULAR GENETICS AND METABOLISM, 2021, 132 : S254 - S254Flowers, May论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Chapel Hill, NC 27515 USA Univ N Carolina, Chapel Hill, NC 27515 USAWeaver, Meredith论文数: 0 引用数: 0 h-index: 0机构: Amer Coll Med Genet & Genom, Bethesda, MD USA Univ N Carolina, Chapel Hill, NC 27515 USABaudet, Heather论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Chapel Hill, NC 27515 USA Univ N Carolina, Chapel Hill, NC 27515 USAPasquali, Marzia论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, Salt Lake City, UT USA Univ Utah, Salt Lake City, UT USA Univ N Carolina, Chapel Hill, NC 27515 USAEnns, Gregory论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Stanford, CA 94305 USA Univ N Carolina, Chapel Hill, NC 27515 USAFeigenbaum, Annette论文数: 0 引用数: 0 h-index: 0机构: Rady Childrens Hosp, San Diego, CA USA Univ Calif San Diego, San Diego, CA 92103 USA Univ N Carolina, Chapel Hill, NC 27515 USALyon, Elaine论文数: 0 引用数: 0 h-index: 0机构: HudsonAlpha Inst Biotechnol, Huntsville, AL USA Univ N Carolina, Chapel Hill, NC 27515 USA论文数: 引用数: h-index:机构:Graham, Brett论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ, Indianapolis, IN 46204 USA Univ N Carolina, Chapel Hill, NC 27515 USASpector, Elaine论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Colorado, Aurora, CO USA Univ Colorado, Aurora, CO USA Univ N Carolina, Chapel Hill, NC 27515 USARacacho, Lemuel论文数: 0 引用数: 0 h-index: 0机构: Alberta Precis Labs, Calgary, AB, Canada Univ N Carolina, Chapel Hill, NC 27515 USAMcLachlan, Michael论文数: 0 引用数: 0 h-index: 0机构: FUJIFILM Cellular Dynam, Madison, WI USA Univ N Carolina, Chapel Hill, NC 27515 USASadre-Bazzaz, Kianoush论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, Salt Lake City, UT USA Univ Utah, Salt Lake City, UT USA Univ N Carolina, Chapel Hill, NC 27515 USAHarris, Heather论文数: 0 引用数: 0 h-index: 0机构: Ancestry, Lehi, UT USA Univ N Carolina, Chapel Hill, NC 27515 USAWang, Yang论文数: 0 引用数: 0 h-index: 0机构: PerkinElmer Genet, Pittsburgh, PA USA Univ N Carolina, Chapel Hill, NC 27515 USADickson, Alexa论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, Salt Lake City, UT USA Univ Utah, Salt Lake City, UT USA Univ N Carolina, Chapel Hill, NC 27515 USAMao, Rong论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, Salt Lake City, UT USA Univ Utah, Salt Lake City, UT USA Univ N Carolina, Chapel Hill, NC 27515 USA
- [5] ACMG recommendations for standards for interpretation of sequence variationsGENETICS IN MEDICINE, 2000, 2 (05) : 302 - 303Kazazian, HA论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Philadelphia, PA 19104 USA Univ Penn, Philadelphia, PA 19104 USABoehm, CD论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Philadelphia, PA 19104 USASeltzer, WK论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Philadelphia, PA 19104 USA
- [6] An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variantsGENETICS IN MEDICINE, 2016, 18 (11) : 1165 - 1165Kleinberger, Jeffrey论文数: 0 引用数: 0 h-index: 0机构: Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr,Program Personalized, Baltimore, MD 21201 USA Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr,Program Personalized, Baltimore, MD 21201 USAMaloney, Kristin A.论文数: 0 引用数: 0 h-index: 0机构: Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr,Program Personalized, Baltimore, MD 21201 USA Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr,Program Personalized, Baltimore, MD 21201 USAPollin, Toni I.论文数: 0 引用数: 0 h-index: 0机构: Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr,Program Personalized, Baltimore, MD 21201 USA Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr,Program Personalized, Baltimore, MD 21201 USAJeng, Linda Jo Bone论文数: 0 引用数: 0 h-index: 0机构: Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr,Program Personalized, Baltimore, MD 21201 USA Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr,Program Personalized, Baltimore, MD 21201 USA
- [7] Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobilityHuman Genetics, 2023, 142 : 785 - 808Maria Pia Leone论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsSilvia Morlino论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsGrazia Nardella论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsRiccardo Pracella论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsDaniela Giachino论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsLuca Celli论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsDemetrio Baldo论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsLicia Turolla论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsMaria Piccione论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsEmanuela Salzano论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsMartina Busè论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsPatrizia Lastella论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsMarcella Zollino论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsRachele Cantone论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsEnrico Grosso论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsAndrea Zonta论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsBarbara Pasini论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsCarmelo Piscopo论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsIlaria De Maggio论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsManuela Priolo论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsCorrado Mammi论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsThomas Foiadelli论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsChiara Trabatti论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsSalvatore Savasta论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsAchille Iolascon论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsAlessandro Ferraris论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsValentina Lodato论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsNiccolò Di Giosaffatte论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsSilvia Majore论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsAngelo Selicorni论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsAntonio Petracca论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsCarmela Fusco论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsMauro Celli论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsVito Guarnieri论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsLucia Micale论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical GeneticsMarco Castori论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio “Giovanni Paolo II”,Division of Medical Genetics
- [8] Web-Based App for Implementing the ACMG 2015 Guidelines for Standardized Interpretation of Germ line Sequence VariantsJOURNAL OF MOLECULAR DIAGNOSTICS, 2015, 17 (06): : 803 - 803Riedlinger, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Med Ctr, Pittsburgh, PA USA Univ Pittsburgh, Med Ctr, Pittsburgh, PA USANikiforova, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Med Ctr, Pittsburgh, PA USA Univ Pittsburgh, Med Ctr, Pittsburgh, PA USANikiforov, Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Med Ctr, Pittsburgh, PA USA Univ Pittsburgh, Med Ctr, Pittsburgh, PA USARoy, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Med Ctr, Pittsburgh, PA USA Univ Pittsburgh, Med Ctr, Pittsburgh, PA USA
- [9] Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobilityHUMAN GENETICS, 2023, 142 (06) : 785 - 808Leone, Maria Pia论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyMorlino, Silvia论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyNardella, Grazia论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyPracella, Riccardo论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyGiachino, Daniela论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Clin & Biol Sci, Med Genet Unit, AOU S Luigi Gonzaga, Turin, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyCelli, Luca论文数: 0 引用数: 0 h-index: 0机构: AOU Policlin Umberto I, Ctr Rare Dis, Rome, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyBaldo, Demetrio论文数: 0 引用数: 0 h-index: 0机构: AULSS2 Marca Trevigiana, Med Genet Unit, Treviso, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyTurolla, Licia论文数: 0 引用数: 0 h-index: 0机构: AULSS2 Marca Trevigiana, Med Genet Unit, Treviso, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, Italy论文数: 引用数: h-index:机构:Salzano, Emanuela论文数: 0 引用数: 0 h-index: 0机构: AOOR Villa Sofia Cervello, Div Med Genet, Palermo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyBuse, Martina论文数: 0 引用数: 0 h-index: 0机构: AOOR Villa Sofia Cervello, Div Med Genet, Palermo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyLastella, Patrizia论文数: 0 引用数: 0 h-index: 0机构: UOC Med Interna Univ C Frugoni AOU Policlin Conso, Ctr Sovraziendale Malattie Rare, Bari, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyZollino, Marcella论文数: 0 引用数: 0 h-index: 0机构: Sacro Cuore Catholic Univ Rome, Inst Genom Med, Dept Life Sci & Publ Hlth, Rome, Italy Fdn IRCCS AOU Policlin A Gemelli, Med Genet Unit, Rome, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyCantone, Rachele论文数: 0 引用数: 0 h-index: 0机构: AOU Citta Salute & Sci Molinette Hosp, Med Genet Unit, Turin, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyGrosso, Enrico论文数: 0 引用数: 0 h-index: 0机构: AOU Citta Salute & Sci Molinette Hosp, Med Genet Unit, Turin, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyZonta, Andrea论文数: 0 引用数: 0 h-index: 0机构: AOU Citta Salute & Sci Molinette Hosp, Med Genet Unit, Turin, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyPasini, Barbara论文数: 0 引用数: 0 h-index: 0机构: AOU Citta Salute & Sci Molinette Hosp, Med Genet Unit, Turin, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyPiscopo, Carmelo论文数: 0 引用数: 0 h-index: 0机构: AORN Antonio Cardarelli, Med & Lab Genet Unit, Naples, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyDe Maggio, Ilaria论文数: 0 引用数: 0 h-index: 0机构: AORN Antonio Cardarelli, Med & Lab Genet Unit, Naples, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyPriolo, Manuela论文数: 0 引用数: 0 h-index: 0机构: Grande Osped Metropolitano Bianchi Melacrino More, Med Genet Unit, Reggio Di Calabria, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyMammi, Corrado论文数: 0 引用数: 0 h-index: 0机构: Grande Osped Metropolitano Bianchi Melacrino More, Med Genet Unit, Reggio Di Calabria, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyFoiadelli, Thomas论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Policlin San Matteo, Clin Pediat, Pavia, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyTrabatti, Chiara论文数: 0 引用数: 0 h-index: 0机构: Azienda Socio Sanit Territoriale ASST Crema, Div Pediat, Crema, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalySavasta, Salvatore论文数: 0 引用数: 0 h-index: 0机构: Azienda Socio Sanit Territoriale ASST Crema, Div Pediat, Crema, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyIolascon, Achille论文数: 0 引用数: 0 h-index: 0机构: Federico II Univ Naples, Dept Mol Med & Med Biotechnol, Naples, Italy CEINGE Biotecnol Avanzate, Naples, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyFerraris, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Expt Med, Clin Genet Unit, UOC Lab Med Genet,AO San Camillo Forlanini, Rome, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyLodato, Valentina论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Expt Med, Clin Genet Unit, UOC Lab Med Genet,AO San Camillo Forlanini, Rome, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyDi Giosaffatte, Niccolo论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Expt Med, Clin Genet Unit, UOC Lab Med Genet,AO San Camillo Forlanini, Rome, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyMajore, Silvia论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Expt Med, Clin Genet Unit, UOC Lab Med Genet,AO San Camillo Forlanini, Rome, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalySelicorni, Angelo论文数: 0 引用数: 0 h-index: 0机构: ASST Lariana St Anna Hosp, Ctr Fragile Child, Dept Pediat, Como, San Fermo Della, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyPetracca, Antonio论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyFusco, Carmela论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyCelli, Mauro论文数: 0 引用数: 0 h-index: 0机构: AOU Policlin Umberto I, Ctr Rare Dis, Rome, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyGuarnieri, Vito论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyMicale, Lucia论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, ItalyCastori, Marco论文数: 0 引用数: 0 h-index: 0机构: Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, Italy Poliambulatorio Giovanni Paolo II, Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, Viale Padre Pio 7, I-71013 San Giovanni Rotondo, Italy
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