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- [43] Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disabilityCLINICAL GENETICS, 2017, 92 (04) : 430 - 433Helbig, K. L.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Div Clin Genom, Aliso Viejo, CA USA Ambry Genet, Div Clin Genom, Aliso Viejo, CA USAMroske, C.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Div Clin Genom, Aliso Viejo, CA USA Ambry Genet, Div Clin Genom, Aliso Viejo, CA USAMoorthy, D.论文数: 0 引用数: 0 h-index: 0机构: New York State Inst Basic Res Dev Disabil, George A Jervis Clin, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA Ambry Genet, Div Clin Genom, Aliso Viejo, CA USASajan, S. A.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Div Clin Genom, Aliso Viejo, CA USA Ambry Genet, Div Clin Genom, Aliso Viejo, CA USAVelinov, M.论文数: 0 引用数: 0 h-index: 0机构: New York State Inst Basic Res Dev Disabil, George A Jervis Clin, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA Icahn Sch Med Mt Sinai, Dept Pediat, New York, NY 10029 USA Ambry Genet, Div Clin Genom, Aliso Viejo, CA USA
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Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandOchenkowska, Katarzyna论文数: 0 引用数: 0 h-index: 0机构: Ctr Rech Ctr Hospitalier Univ Montreal CRCHUM, Ctr Rech Ctr Hosp Univ Montreal CRCHUM, Montreal, PQ H2X 0A9, Canada Univ Montreal, Dept Neurosci, Montreal, PQ H2X 0A9, Canada UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandKomdeur, Fenne L.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Dept Human Genet, Sect Clin Genet, Med Ctr, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Amsterdam Reprod & Dev, Med Ctr, NL-1105 AZ Amsterdam, Netherlands UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandLiang, Robin A.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp North Norway, Dept Med Genet, Div Child & Adolescent Hlth, N-9019 Tromso, Norway UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandAbdel-Hamid, Mohamed S.论文数: 0 引用数: 0 h-index: 0机构: Human Genet & Genome Res Inst, Natl Res Ctr, Med Mol Genet Dept, Cairo, Egypt UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandSultan, Tipu论文数: 0 引用数: 0 h-index: 0机构: Univ Child Hlth Sci, Children Hosp, Dept Pediat Neurol, Lahore 54000, Punjab, Pakistan UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandBaroy, Tuva论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, N-0450 Oslo, Norway UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandVan Ghelue, Marijke论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp North Norway, Dept Med Genet, Div Child & Adolescent Hlth, N-9019 Tromso, Norway UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandVona, Barbara论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Univ Med Ctr Gottingen, Inst Auditory Neurosci, D-37073 Gottingen, Germany Univ Med Ctr Gottingen, InnerEarLab, D-37073 Gottingen, Germany UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandZafar, Faisal论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp & Inst Child Hlth, Dept Paediat Neurol, Multan 60000, Punjab, Pakistan UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandAlkuraya, Fowzan S.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Translat Genom, Riyadh 12713, Saudi Arabia UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandZaki, Maha S.论文数: 0 引用数: 0 h-index: 0机构: Human Genet & Genome Res Inst, Natl Res Ctr, Clin Genet Dept, Cairo 12622, Egypt UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandSeverino, Mariasavina论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Neuroradiol Unit, Genoa, Italy UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandDuru, Kingsley C.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandTryon, Robert C.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Cell Biol & Physiol, St Louis, MO 63110 USA Washington Univ, Ctr Invest Membrane Excitabil Dis CIMED, St Louis, MO 63110 USA UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandBrauteset, Lin Vigdis论文数: 0 引用数: 0 h-index: 0机构: Innlandet Hosp Sanderud, Div Habilitat Children, N-2312 Hamar, Norway UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandAnsari, Morad论文数: 0 引用数: 0 h-index: 0机构: Western Gen Hosp, South East Scotland Genet Serv, Edinburgh EH4 2XU, Scotland UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandHamilton, Mark论文数: 0 引用数: 0 h-index: 0机构: Queen Elizabeth Univ Hosp, West Scotland Clin Genet Serv, Glasgow G51 4TF, Scotland UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, Englandvan Haelst, Mieke M.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Dept Human Genet, Sect Clin Genet, Med Ctr, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Amsterdam Reprod & Dev, Med Ctr, NL-1105 AZ Amsterdam, Netherlands UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, Englandvan Haaften, Gijs论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr, Dept Genet, NL-3584 CX Utrecht, Netherlands UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandZara, Federico论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, UOC Genet Med, I-16147 Genoa, Italy UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandSamarut, Eric论文数: 0 引用数: 0 h-index: 0机构: Ctr Rech Ctr Hospitalier Univ Montreal CRCHUM, Ctr Rech Ctr Hosp Univ Montreal CRCHUM, Montreal, PQ H2X 0A9, Canada Univ Montreal, Dept Neurosci, Montreal, PQ H2X 0A9, Canada UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandNichols, Colin G.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandSmeland, Marie F.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp North Norway, Dept Pediat Rehabil, N-9019 Tromso, Norway UiT Arctic Univ Norway, Inst Clin Med, N-9019 Tromso, Norway SUNY Rutgers, Ctr Adv Biotechnol & Med, 679 Hoes Lane West, Piscataway, NJ 08854 USA UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, EnglandMcclenaghan, Conor论文数: 0 引用数: 0 h-index: 0机构: SUNY Rutgers, Ctr Adv Biotechnol & Med, Piscataway, NJ 08854 USA SUNY Rutgers, Robert Wood Johnson Med Sch, Dept Med, Piscataway, NJ 08854 USA SUNY Rutgers, Robert Wood Johnson Med Sch, Dept Pharmacol, Piscataway, NJ 08854 USA UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England
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- [46] Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphismAMERICAN JOURNAL OF HUMAN GENETICS, 2021, 108 (06) : 1138 - 1150Chopra, Maya论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, France Inst Imagine, F-75015 Paris, France Univ Paris, Lab Embryol & Genet Human Malformat, Inst Imagine, Inst Natl Sante Rech Med INSERM UMR 1163, F-75015 Paris, France Boston Childrens Hosp, Rosamund Stone Zander Translat Neurosci Ctr, Dept Neurol, Boston, MA 02115 USA Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceMcEntagart, Meriel论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ Hosp NHS FT, Dept Med Genet, London SW17 ORE, England Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, France论文数: 引用数: h-index:机构:Platzer, Konrad论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Inst Human Genet, Med Ctr, D-04129 Leipzig, Germany Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceShukla, Anju论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceGirisha, Katta M.论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceKaur, Anupriya论文数: 0 引用数: 0 h-index: 0机构: PGIMER, Genet Metab Unit, Dept Pediat, Chandigarh 160012, India Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceKaur, Parneet论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FrancePfundt, Rolph论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, Netherlands Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceVeenstra-Knol, Hermine论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, CB50, Groningen, Netherlands Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceMancini, Grazia M. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Rotterdam, Erasmus Med Ctr, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceCappuccio, Gerarda论文数: 0 引用数: 0 h-index: 0机构: Federico II Univ Naples, Dept Translat Med, Sect Pediat, I-80131 Naples, Italy Telethon Inst Genet & Med, I-80078 Naples, Italy Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceBrunetti-Pierri, Nicola论文数: 0 引用数: 0 h-index: 0机构: Federico II Univ Naples, Dept Translat Med, Sect Pediat, I-80131 Naples, Italy Telethon Inst Genet & Med, I-80078 Naples, Italy Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceKortuem, Fanny论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Dept Pediat, D-20246 Hamburg, Germany Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceHempel, Maja论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Dept Pediat, D-20246 Hamburg, Germany Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceDenecke, Jonas论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Dept Pediat, D-20246 Hamburg, Germany Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceLehman, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceKleefstra, Tjitske论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, Netherlands Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceStuurman, Kyra E.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Rotterdam, Erasmus Med Ctr, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceWilke, Martina论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Rotterdam, Erasmus Med Ctr, Dept Clin Genet, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceThompson, Michelle L.论文数: 0 引用数: 0 h-index: 0机构: HudsonAlpha Inst Biotechnol, Huntsville, AL 35806 USA Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceBebin, E. Martina论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Neurol & Pediat, Birmingham, AL 35294 USA Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceBijlsma, Emilia K.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet, Med Ctr, NL-2300 RC Leiden, Netherlands Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceHoffer, Mariette J., V论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet, Med Ctr, NL-2300 RC Leiden, Netherlands Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FrancePeeters-Scholte, Cacha论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Neurol, Med Ctr, NL-2300 RC Leiden, Netherlands Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceSlavotinek, Anne论文数: 0 引用数: 0 h-index: 0机构: UCSF, Div Genet, Dept Pediat, San Francisco, CA 94158 USA Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, 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h-index: 0机构: St Georges Univ Hosp NHS FT, St Georges Genom Serv, London SW17 ORE, England Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceShort, John论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ Hosp NHS FT, St Georges Genom Serv, London SW17 ORE, England Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceYachelevich, Naomi论文数: 0 引用数: 0 h-index: 0机构: NYU Clin Genet Serv, 145 E 32nd St PH, New York, NY 10016 USA Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceLala, Sajel论文数: 0 引用数: 0 h-index: 0机构: Nickelaus Childrens Hlth Syst, Div Clin Genet, 3100 SW 62nd Ave, Coral Gables, FL 33155 USA Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Dept Genet, F-75015 Paris, FranceFernandez-Jaen, Alberto论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Quironsalud, Dept Pediat Neurol, Madrid 28224, Spain Univ Complutense, Madrid 28224, Spain Hop Necker Enfants Malad, 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- [47] Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorderHUMAN MUTATION, 2021, 42 (05) : 498 - 505Ghesh, Leila论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, France Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, France论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Trochu, Eva论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, France Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, FranceLandeau-Trottier, Gaelle论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, France Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, FranceBreheret, Flora论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, France Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, FranceThauvin-Robinet, Christel论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Dijon Bourgogne, FHU TRANSLAD, Dijon, France Univ Bourgogne Franche Comte, Dijon, France Univ Bourgogne, INSERM, UMR 1231, Genet Anomalies Dev, Dijon, France Ctr Hosp Univ Dijon Bourgogne, Ctr Genet, Hop Enfants, Dijon, France Ctr Hosp Univ Dijon Bourgogne, Ctr Reference Deficience Intellectuelle Causes Ra, Hop Enfants, Dijon, France CHU Dijon, UF Innovat Diagnost Genom Malad Rares, Dijon, France Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, FranceBruel, Ange-Line论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Dijon Bourgogne, FHU TRANSLAD, Dijon, France Univ Bourgogne Franche Comte, Dijon, France Univ Bourgogne, INSERM, UMR 1231, Genet Anomalies Dev, Dijon, France CHU Dijon, UF Innovat Diagnost Genom Malad Rares, Dijon, France Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, FranceKuentz, Paul论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Dijon Bourgogne, FHU TRANSLAD, Dijon, France Univ Bourgogne Franche Comte, Dijon, France Univ Bourgogne, INSERM, UMR 1231, Genet Anomalies Dev, Dijon, France Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, FranceCoubes, Christine论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Dept Genet Med Malad Rares & Med Personnalisee, Hop Arnaud de Villeneuve, Montpellier, France Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, FranceCuisset, Laurence论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Hop Cochin, AP HP, Lab Genet & Biol Mol,Dept Medicouniv BioPhyGen, Paris, France Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, FranceMignot, Cyril论文数: 0 引用数: 0 h-index: 0机构: UPMC Univ Paris 06, Sorbonne Univ, Inst Cerveau & Moelle Epiniere, ICM,INSERM,U1127,CNRS,UMR 7225,UMR S 1127, Paris, France Hop La Pitie Salpetriere, CHU Paris, Serv Genet Clin & Med, Paris, France Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, FranceKeren, Boris论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, CHU Paris, Serv Genet Clin & Med, Paris, France Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, FranceBezieau, Stephane论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, France Univ Nantes, CNRS, Inst Thorax, INSERM, Nantes, France Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, FranceCogne, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, France Univ Nantes, CNRS, Inst Thorax, INSERM, Nantes, France Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, France
- [48] De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in DrosophilaEuropean Journal of Human Genetics, 2016, 24 : 1145 - 1153Dorien Lugtenberg论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsMargot R F Reijnders论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsMichaela Fenckova论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsEmilia K Bijlsma论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsRaphael Bernier论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsBregje W M van Bon论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsEric Smeets论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsAnneke T Vulto-van Silfhout论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsDanielle Bosch论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsEvan E Eichler论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsHeather C Mefford论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsGemma L Carvill论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsErnie M H F Bongers论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsJanneke HM Schuurs-Hoeijmakers论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsClaudia A Ruivenkamp论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsGijs W E Santen论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsArn M J M van den Maagdenberg论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsCacha M P C D Peeters-Scholte论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsSabine Kuenen论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsPatrik Verstreken论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsRolph Pfundt论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsHelger G Yntema论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsPetra F de Vries论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsJoris A Veltman论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsAlexander Hoischen论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsChristian Gilissen论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsBert B A de Vries论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsAnnette Schenck论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsTjitske Kleefstra论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human GeneticsLisenka E L M Vissers论文数: 0 引用数: 0 h-index: 0机构: Radboud University Medical Center,Department of Human Genetics
- [49] De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in DrosophilaEUROPEAN JOURNAL OF HUMAN GENETICS, 2016, 24 (08) : 1145 - 1153Lugtenberg, Dorien论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsReijnders, Margot R. F.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsFenckova, Michaela论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsBijlsma, Emilia K.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands论文数: 引用数: h-index:机构:van Bon, Bregje W. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsSmeets, Eric论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Clin Genet, Maastricht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsVulto-van Silfhout, Anneke T.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsBosch, Danielle论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsEichler, Evan E.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Howard Hughes Med Inst, Seattle, WA USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsMefford, Heather C.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsCarvill, Gemma L.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsBongers, Ernie M. H. F.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsSchuurs-Hoeijmakers, Janneke H. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsRuivenkamp, Claudia A.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsSanten, Gijs W. E.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlandsvan den Maagdenberg, Arn M. J. M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsPeeters-Scholte, Cacha M. P. C. D.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsKuenen, Sabine论文数: 0 引用数: 0 h-index: 0机构: VIB, Ctr Biol Dis, Leuven, Belgium Katholieke Univ Leuven, Ctr Human Genet, LIND, Leuven, Belgium Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsVerstreken, Patrik论文数: 0 引用数: 0 h-index: 0机构: VIB, Ctr Biol Dis, Leuven, Belgium Katholieke Univ Leuven, Ctr Human Genet, LIND, Leuven, Belgium Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsPfundt, Rolph论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsYntema, Helger G.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlandsde Vries, Petra F.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsVeltman, Joris A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Maastricht Univ, Dept Clin Genet, Maastricht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsHoischen, Alexander论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsGilissen, Christian论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlandsde Vries, Bert B. A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsSchenck, Annette论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsKleefstra, Tjitske论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsVissers, Lisenka E. L. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands
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