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- [1] Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (11) : 1378 - 1380Fichou, Yann论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CNRS, UMR 8104, Inst Cochin,Dept Genet & Dev, Paris, France INSERM, U567, Paris, France Univ Paris 05, CNRS, UMR 8104, Inst Cochin,Dept Genet & Dev, Paris, FranceBahi-Buisson, Nadia论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Serv Neuropediat, AP HP, Paris, France Univ Paris 05, CNRS, UMR 8104, Inst Cochin,Dept Genet & Dev, Paris, FranceNectoux, Juliette论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CNRS, UMR 8104, Inst Cochin,Dept Genet & Dev, Paris, France INSERM, U567, Paris, France Univ Paris 05, CNRS, UMR 8104, Inst Cochin,Dept Genet & Dev, Paris, FranceChelly, Jamel论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CNRS, UMR 8104, Inst Cochin,Dept Genet & Dev, Paris, France INSERM, U567, Paris, France Hop Cochin, AP HP, Lab Biochim & Genet Mol, F-75674 Paris, France Univ Paris 05, CNRS, UMR 8104, Inst Cochin,Dept Genet & Dev, Paris, FranceHeron, Delphine论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Serv Genet Med, Paris, France Univ Paris 05, CNRS, UMR 8104, Inst Cochin,Dept Genet & Dev, Paris, FranceCuisset, Laurence论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CNRS, UMR 8104, Inst Cochin,Dept Genet & Dev, Paris, France INSERM, U567, Paris, France Hop Cochin, AP HP, Lab Biochim & Genet Mol, F-75674 Paris, France Univ Paris 05, CNRS, UMR 8104, Inst Cochin,Dept Genet & Dev, Paris, FranceBienvenu, Thierry论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CNRS, UMR 8104, Inst Cochin,Dept Genet & Dev, Paris, France INSERM, U567, Paris, France Hop Cochin, AP HP, Lab Biochim & Genet Mol, F-75674 Paris, France Univ Paris 05, CNRS, UMR 8104, Inst Cochin,Dept Genet & Dev, Paris, France
- [2] X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunctionBRAIN, 2011, 134 : 3369 - 3383Stromme, Petter论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Ulleval Hosp, Women & Childrens Div, Dept Clin Neurosci Children, N-0424 Oslo, Norway Albert Einstein Coll Med, Dominick P Purpura Dept Neurosci, Rose F Kennedy Ctr, Bronx, NY 10461 USA Albert Einstein Coll Med, Dept Neurosci, Rose F Kennedy Ctr, Behav Core Facil, Bronx, NY 10461 USADobrenis, Kostantin论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dominick P Purpura Dept Neurosci, Rose F Kennedy Ctr, Bronx, NY 10461 USA Albert Einstein Coll Med, Dept Neurosci, Rose F Kennedy Ctr, Behav Core Facil, Bronx, NY 10461 USASillitoe, Roy V.论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dominick P Purpura Dept Neurosci, Rose F Kennedy Ctr, Bronx, NY 10461 USA Albert Einstein Coll Med, Dept Neurosci, Rose F Kennedy Ctr, Behav Core Facil, Bronx, NY 10461 USAGulinello, Maria论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dept Neurosci, Rose F Kennedy Ctr, Behav Core Facil, Bronx, NY 10461 USA Albert Einstein Coll Med, Dept Neurosci, Rose F Kennedy Ctr, Behav Core Facil, Bronx, NY 10461 USAAli, Nafeeza F.论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dominick P Purpura Dept Neurosci, Rose F Kennedy Ctr, Bronx, NY 10461 USA Albert Einstein Coll Med, Dept Neurosci, Rose F Kennedy Ctr, Behav Core Facil, Bronx, NY 10461 USADavidson, Cristin论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dominick P Purpura Dept Neurosci, Rose F Kennedy Ctr, Bronx, NY 10461 USA Albert Einstein Coll Med, Dept Neurosci, Rose F Kennedy Ctr, Behav Core Facil, Bronx, NY 10461 USAMicsenyi, Matthew C.论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dominick P Purpura Dept Neurosci, Rose F Kennedy Ctr, Bronx, NY 10461 USA Albert Einstein Coll Med, Dept Neurosci, Rose F Kennedy Ctr, Behav Core Facil, Bronx, NY 10461 USAStephney, Gloria论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dominick P Purpura Dept Neurosci, Rose F Kennedy Ctr, Bronx, NY 10461 USA Albert Einstein Coll Med, Dept Neurosci, Rose F Kennedy Ctr, Behav Core Facil, Bronx, NY 10461 USAEllevog, Linda论文数: 0 引用数: 0 h-index: 0机构: Univ Oslo, Fac Med, N-0316 Oslo, Norway Oslo Univ Hosp, Ctr Mol Biol & Neurosci, Rikshosp, N-0424 Oslo, Norway Oslo Univ Hosp, Inst Med Microbiol, Rikshosp, N-0424 Oslo, Norway Albert Einstein Coll Med, Dept Neurosci, Rose F Kennedy Ctr, Behav Core Facil, Bronx, NY 10461 USAKlungland, Arne论文数: 0 引用数: 0 h-index: 0机构: Univ Oslo, Fac Med, N-0316 Oslo, Norway Oslo Univ Hosp, Ctr Mol Biol & Neurosci, Rikshosp, N-0424 Oslo, Norway Oslo Univ Hosp, Inst Med Microbiol, Rikshosp, N-0424 Oslo, Norway Albert Einstein Coll Med, Dept Neurosci, Rose F Kennedy Ctr, Behav Core Facil, Bronx, NY 10461 USAWalkley, Steven U.论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dept Neurosci, Rose F Kennedy Ctr, Behav Core Facil, Bronx, NY 10461 USA Albert Einstein Coll Med, Dominick P Purpura Dept Neurosci, Rose F Kennedy Ctr, Bronx, NY 10461 USA Albert Einstein Coll Med, Dept Neurosci, Rose F Kennedy Ctr, Behav Core Facil, Bronx, NY 10461 USA
- [3] Atypical parkinsonism due to a mutation in the SLC9A6 geneMOVEMENT DISORDERS, 2020, 35 : S516 - S517Munoz-Delgado, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Seville, Unidad Trastornos Movimiento, Serv Neurol & Neurofisiol Clin,CSIC, Inst Biomed Sevilla IBiS,Hosp Univ Virgen del Roc, Seville, Spain Univ Seville, Unidad Trastornos Movimiento, Serv Neurol & Neurofisiol Clin,CSIC, Inst Biomed Sevilla IBiS,Hosp Univ Virgen del Roc, Seville, SpainJesus, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Seville, Unidad Trastornos Movimiento, Serv Neurol & Neurofisiol Clin,CSIC, Inst Biomed Sevilla IBiS,Hosp Univ Virgen del Roc, Seville, Spain Univ Seville, Unidad Trastornos Movimiento, Serv Neurol & Neurofisiol Clin,CSIC, Inst Biomed Sevilla IBiS,Hosp Univ Virgen del Roc, Seville, Spain论文数: 引用数: h-index:机构:Adarmes-Gomez, A. D.论文数: 0 引用数: 0 h-index: 0机构: Univ Seville, Unidad Trastornos Movimiento, Serv Neurol & Neurofisiol Clin,CSIC, Inst Biomed Sevilla IBiS,Hosp Univ Virgen del Roc, Seville, Spain Univ Seville, Unidad Trastornos Movimiento, Serv Neurol & Neurofisiol Clin,CSIC, Inst Biomed Sevilla IBiS,Hosp Univ Virgen del Roc, Seville, SpainPerez-Errazquin, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Seville, Unidad Trastornos Movimiento, Serv Neurol & Neurofisiol Clin,CSIC, Inst Biomed Sevilla IBiS,Hosp Univ Virgen del Roc, Seville, Spain Univ Seville, Unidad Trastornos Movimiento, Serv Neurol & Neurofisiol Clin,CSIC, Inst Biomed Sevilla IBiS,Hosp Univ Virgen del Roc, Seville, SpainCarrillo, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Seville, Unidad Trastornos Movimiento, Serv Neurol & Neurofisiol Clin,CSIC, Inst Biomed Sevilla IBiS,Hosp Univ Virgen del Roc, Seville, Spain Univ Seville, Unidad Trastornos Movimiento, Serv Neurol & Neurofisiol Clin,CSIC, Inst Biomed Sevilla IBiS,Hosp Univ Virgen del Roc, Seville, SpainMir, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Seville, Unidad Trastornos Movimiento, Serv Neurol & Neurofisiol Clin,CSIC, Inst Biomed Sevilla IBiS,Hosp Univ Virgen del Roc, Seville, Spain Univ Seville, Unidad Trastornos Movimiento, Serv Neurol & Neurofisiol Clin,CSIC, Inst Biomed Sevilla IBiS,Hosp Univ Virgen del Roc, Seville, Spain
- [4] Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosumBRAIN & DEVELOPMENT, 2013, 35 (02): : 172 - 176Mignot, Cyril论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, APHP, Unite Fonct Genet Med, F-75651 Paris 13, France Ctr Reference Deficiences Intellectuelles Causes, Paris, France Hop Armand Trousseau, APHP, Serv Neuropediat, Paris, France Grp Hosp Pitie Salpetriere, APHP, Unite Fonct Genet Med, F-75651 Paris 13, FranceHeron, Delphine论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, APHP, Unite Fonct Genet Med, F-75651 Paris 13, France Ctr Reference Deficiences Intellectuelles Causes, Paris, France Hop Trousseau, Ctr Reference Malformat & Malad Congenitales Cerv, F-75571 Paris, France Grp Hosp Pitie Salpetriere, APHP, Unite Fonct Genet Med, F-75651 Paris 13, FranceBursztyn, Joseph论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, APHP, Serv Ophtalmol, Paris, France Grp Hosp Pitie Salpetriere, APHP, Unite Fonct Genet Med, F-75651 Paris 13, FranceMomtchilova, Marta论文数: 0 引用数: 0 h-index: 0机构: Hop Trousseau, APHP, Serv Ophtalmol, F-75571 Paris, France Grp Hosp Pitie Salpetriere, APHP, Unite Fonct Genet Med, F-75651 Paris 13, FranceMayer, Michele论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Serv Neuropediat, Paris, France Grp Hosp Pitie Salpetriere, APHP, Unite Fonct Genet Med, F-75651 Paris 13, FranceWhalen, Sandra论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, APHP, Unite Fonct Genet Med, F-75651 Paris 13, France Ctr Reference Deficiences Intellectuelles Causes, Paris, France Grp Hosp Pitie Salpetriere, APHP, Unite Fonct Genet Med, F-75651 Paris 13, FranceLegall, Anne论文数: 0 引用数: 0 h-index: 0机构: Hop Trousseau, Ctr Reference Malformat & Malad Congenitales Cerv, F-75571 Paris, France Hop Trousseau, APHP, Serv Genet Med, F-75571 Paris, France Grp Hosp Pitie Salpetriere, APHP, Unite Fonct Genet Med, F-75651 Paris 13, Francede Villemeur, Thierry Billette论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Serv Neuropediat, Paris, France Hop Trousseau, Ctr Reference Malformat & Malad Congenitales Cerv, F-75571 Paris, France Univ Paris 06, F-75000 Paris, France Grp Hosp Pitie Salpetriere, APHP, Unite Fonct Genet Med, F-75651 Paris 13, FranceBurglen, Lydie论文数: 0 引用数: 0 h-index: 0机构: Hop Trousseau, Ctr Reference Malformat & Malad Congenitales Cerv, F-75571 Paris, France Hop Trousseau, APHP, Serv Genet Med, F-75571 Paris, France Grp Hosp Pitie Salpetriere, APHP, Unite Fonct Genet Med, F-75651 Paris 13, France
- [5] A Loss-of-Function Mutation in the SLC9A6 Gene Causes X-Linked Mental Retardation Resembling Angelman SyndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2011, 156B (07) : 799 - 807Takahashi, Yumi论文数: 0 引用数: 0 h-index: 0机构: Hokkaido Univ, Grad Sch Med, Dept Pediat, Kita Ku, Sapporo, Hokkaido 0608638, JapanHosoki, Kana论文数: 0 引用数: 0 h-index: 0机构: Hokkaido Univ, Grad Sch Med, Dept Pediat, Kita Ku, Sapporo, Hokkaido 0608638, JapanMatsushita, Masafumi论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Grad Sch Sci, Dept Biol Sci, Osaka, Japan Hokkaido Univ, Grad Sch Med, Dept Pediat, Kita Ku, Sapporo, Hokkaido 0608638, JapanFunatsuka, Makoto论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Dept Pediat, Tokyo, Japan Hokkaido Univ, Grad Sch Med, Dept Pediat, Kita Ku, Sapporo, Hokkaido 0608638, JapanSaito, Kayoko论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Inst Med Genet, Tokyo, Japan Hokkaido Univ, Grad Sch Med, Dept Pediat, Kita Ku, Sapporo, Hokkaido 0608638, JapanKanazawa, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Grad Sch Sci, Dept Biol Sci, Osaka, Japan Hokkaido Univ, Grad Sch Med, Dept Pediat, Kita Ku, Sapporo, Hokkaido 0608638, JapanGoto, Yu-ichi论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Tokyo, Japan Hokkaido Univ, Grad Sch Med, Dept Pediat, Kita Ku, Sapporo, Hokkaido 0608638, JapanSaitoh, Shinji论文数: 0 引用数: 0 h-index: 0机构: Hokkaido Univ, Grad Sch Med, Dept Pediat, Kita Ku, Sapporo, Hokkaido 0608638, Japan Hokkaido Univ, Grad Sch Med, Dept Pediat, Kita Ku, Sapporo, Hokkaido 0608638, Japan
- [6] A novel splicing mutation in SLC9A6 in a boy with Christianson syndromeHUMAN GENOME VARIATION, 2019, 6 (1)Ieda, Daisuke论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, Japan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Ohashi, Kei论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, JapanNegishi, Yutaka论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, JapanHattori, Ayako论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, JapanArisaka, Atsuko论文数: 0 引用数: 0 h-index: 0机构: Tokyo Kita Med Ctr, Dept Pediat, Tokyo, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, JapanHasegawa, Setsuko论文数: 0 引用数: 0 h-index: 0机构: Tokyo Kita Med Ctr, Dept Pediat, Tokyo, Japan Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Pediat & Dev Biol, Tokyo, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, JapanSaitoh, Shinji论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, Japan
- [7] A novel splicing mutation in SLC9A6 in a boy with Christianson syndromeHuman Genome Variation, 6Daisuke Ieda论文数: 0 引用数: 0 h-index: 0机构: Nagoya City University Graduate School of Medical Sciences,Department of Pediatrics and NeonatologyIkumi Hori论文数: 0 引用数: 0 h-index: 0机构: Nagoya City University Graduate School of Medical Sciences,Department of Pediatrics and NeonatologyYuji Nakamura论文数: 0 引用数: 0 h-index: 0机构: Nagoya City University Graduate School of Medical Sciences,Department of Pediatrics and NeonatologyKei Ohashi论文数: 0 引用数: 0 h-index: 0机构: Nagoya City University Graduate School of Medical Sciences,Department of Pediatrics and NeonatologyYutaka Negishi论文数: 0 引用数: 0 h-index: 0机构: Nagoya City University Graduate School of Medical Sciences,Department of Pediatrics and NeonatologyAyako Hattori论文数: 0 引用数: 0 h-index: 0机构: Nagoya City University Graduate School of Medical Sciences,Department of Pediatrics and NeonatologyAtsuko Arisaka论文数: 0 引用数: 0 h-index: 0机构: Nagoya City University Graduate School of Medical Sciences,Department of Pediatrics and NeonatologySetsuko Hasegawa论文数: 0 引用数: 0 h-index: 0机构: Nagoya City University Graduate School of Medical Sciences,Department of Pediatrics and NeonatologyShinji Saitoh论文数: 0 引用数: 0 h-index: 0机构: Nagoya City University Graduate School of Medical Sciences,Department of Pediatrics and Neonatology
- [8] SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndromeAMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (04) : 1003 - 1010Gilfillan, Gregor D.论文数: 0 引用数: 0 h-index: 0机构: Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, Norway Ullevaal Univ Hosp, Dept Med Genet, NO-0407 Oslo, Norway Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwaySelmer, Kaja K.论文数: 0 引用数: 0 h-index: 0机构: Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, Norway Ullevaal Univ Hosp, Dept Med Genet, NO-0407 Oslo, Norway Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayRoxrud, Ingrid论文数: 0 引用数: 0 h-index: 0机构: Ullevaal Univ Hosp, Rikshosp, Radium Hosp Med Ctr, Inst Canc Res,Dept Biochem, NO-0310 Oslo, Norway Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwaySmith, Raffaella论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Canc Genome Project, Cambridge CB10 1SA, England Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayKyllerman, Marten论文数: 0 引用数: 0 h-index: 0机构: Gothenburg Univ, Queen Silvia Childrens Hosp, S-41685 Gothenburg, Sweden Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayEiklid, Kristin论文数: 0 引用数: 0 h-index: 0机构: Ullevaal Univ Hosp, Dept Med Genet, NO-0407 Oslo, Norway Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayKroken, Mette论文数: 0 引用数: 0 h-index: 0机构: Ullevaal Univ Hosp, Dept Med Genet, NO-0407 Oslo, Norway Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayMattingsdal, Morten论文数: 0 引用数: 0 h-index: 0机构: Ullevaal Univ Hosp, Dept Med Genet, NO-0407 Oslo, Norway Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayEgeland, Thore论文数: 0 引用数: 0 h-index: 0机构: Ullevaal Univ Hosp, Dept Med Genet, NO-0407 Oslo, Norway Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayStenmark, Harald论文数: 0 引用数: 0 h-index: 0机构: Ullevaal Univ Hosp, Rikshosp, Radium Hosp Med Ctr, Inst Canc Res,Dept Biochem, NO-0310 Oslo, Norway Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwaySjoholm, Hans论文数: 0 引用数: 0 h-index: 0机构: Ullevaal Univ Hosp, Dept Neurol, Sect Neurophysiol, NO-0407 Oslo, Norway Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayServer, Andres论文数: 0 引用数: 0 h-index: 0机构: Ullevaal Univ Hosp, Dept Neuroradiol, NO-0407 Oslo, Norway Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwaySamuelsson, Lena论文数: 0 引用数: 0 h-index: 0机构: Gothenburg Univ, Sahlgrens Univ Hosp, Dept Clin Genet, S-41685 Gothenburg, Sweden Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayChristianson, Arnold论文数: 0 引用数: 0 h-index: 0机构: Univ Witwatersrand, ZA-2000 Johannesburg, South Africa Natl Hlth Lab Serv, Div Human Genet, ZA-2000 Johannesburg, South Africa Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayTarpey, Patrick论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Canc Genome Project, Cambridge CB10 1SA, England Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayWhibley, Annabel论文数: 0 引用数: 0 h-index: 0机构: Cambridge Inst Med Res, Cambridge CB2 0XY, England Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayStratton, Michael R.论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Canc Genome Project, Cambridge CB10 1SA, England Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayFutreal, P. Andrew论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Canc Genome Project, Cambridge CB10 1SA, England Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayTeague, Jon论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Canc Genome Project, Cambridge CB10 1SA, England Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayEdkins, Sarah论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Canc Genome Project, Cambridge CB10 1SA, England Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayGecz, Jozef论文数: 0 引用数: 0 h-index: 0机构: Womens & Childrens Hosp, Dept Med Genet, Neurogenet Lab, Adelaide, SA 5006, Australia Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayTurner, Gillian论文数: 0 引用数: 0 h-index: 0机构: Hunter Genet & Univ Newcastle, Newcastle, NSW 2300, Australia Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayRaymond, F. Lucy论文数: 0 引用数: 0 h-index: 0机构: Cambridge Inst Med Res, Cambridge CB2 0XY, England Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwaySchwartz, Charles论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, JC Self Res Inst Genet, Greenwood, SC 29646 USA Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayStevenson, Roger E.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, JC Self Res Inst Genet, Greenwood, SC 29646 USA Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayUndlien, Dag E.论文数: 0 引用数: 0 h-index: 0机构: Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, Norway Ullevaal Univ Hosp, Dept Med Genet, NO-0407 Oslo, Norway Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, NorwayStromme, Petter论文数: 0 引用数: 0 h-index: 0机构: Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, Norway Ullevaal Univ Hosp, Dept Pediat, NO-0407 Oslo, Norway Ullevaal Univ Hosp, Fac Div, Fac Med, NO-0316 Oslo, Norway
- [9] A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (08) : 2103 - 2110Masurel-Paulet, Alice论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon, Hop Enfants, Ctr Genet, 14 Rue Gaffarel, Dijon, France CHU Dijon, Hop Enfants, Ctr Reference Anomalies Dev & Syndromes Malformat, 14 Rue Gaffarel, Dijon, France CHU Dijon, Federat Hospitalouniv TRANSLAD, Dijon, France Univ Fed Bourgogne Franche Comte, Dijon, France CHU Dijon, Hop Enfants, Ctr Genet, 14 Rue Gaffarel, Dijon, FrancePiton, Amelie论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Lab Mecanismes Genet Malad Neurodev, Illkirch Graffenstaden, France CHU Strasbourg, Lab Diagnost Genet, Strasbourg, France CHU Dijon, Hop Enfants, Ctr Genet, 14 Rue Gaffarel, Dijon, FranceChancenotte, Sophie论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon, Hop Enfants, Ctr Referent Troubles Langage & Apprentissages, Dijon, France CHU Dijon, Hop Enfants, Ctr Genet, 14 Rue Gaffarel, Dijon, 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