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- [1] Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorderKIDNEY INTERNATIONAL, 2016, 90 (01) : 203 - 211Clissold, Rhian L.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Sch Med, Exeter, Devon, England Royal Devon & Exeter Natl Hlth Serv Fdn Trust, Natl Inst Hlth Res Exeter Clin Res Facil, Exeter, Devon, England Univ Exeter, Sch Med, Exeter, Devon, EnglandShaw-Smith, Charles论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter Natl Hlth Serv Fdn Trust, Dept Clin Genet, Exeter, Devon, England Univ Exeter, Sch Med, Exeter, Devon, EnglandTurnpenny, Peter论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter Natl Hlth Serv Fdn Trust, Dept Clin Genet, Exeter, Devon, England Univ Exeter, Sch Med, Exeter, Devon, EnglandBunce, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter Natl Hlth Serv Fdn Trust, Dept Mol Genet, Exeter, Devon, England Univ Exeter, Sch Med, Exeter, Devon, EnglandBockenhauer, Detlef论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children Natl Hlth Serv Fdn, Dept Nephrol, London, England UCL, Ctr Nephrol, London, England Univ Exeter, Sch Med, Exeter, Devon, EnglandKerecuk, Larissa论文数: 0 引用数: 0 h-index: 0机构: Birmingham Childrens Hosp, Dept Nephrol, Birmingham, W Midlands, England Univ Exeter, Sch Med, Exeter, Devon, EnglandWaller, Simon论文数: 0 引用数: 0 h-index: 0机构: St Thomas Hosp, Evelina London Childrens Hosp, Dept Nephrol, London, England Univ Exeter, Sch Med, Exeter, Devon, EnglandBowman, Pamela论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Sch Med, Exeter, Devon, England Univ Exeter, Sch Med, Exeter, Devon, EnglandFord, Tamsin论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Sch Med, Exeter, Devon, England Univ Exeter, Sch Med, Exeter, Devon, EnglandEllard, Sian论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Sch Med, Exeter, Devon, England Royal Devon & Exeter Natl Hlth Serv Fdn Trust, Dept Mol Genet, Exeter, Devon, England Univ Exeter, Sch Med, Exeter, Devon, EnglandHattersley, Andrew T.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Sch Med, Exeter, Devon, England Royal Devon & Exeter Natl Hlth Serv Fdn Trust, Natl Inst Hlth Res Exeter Clin Res Facil, Exeter, Devon, England Royal Devon & Exeter Natl Hlth Serv Fdn Trust, Macleod Diabet & Endocrine Ctr, Exeter, Devon, England Univ Exeter, Sch Med, Exeter, Devon, EnglandBingham, Coralie论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Sch Med, Exeter, Devon, England Royal Devon & Exeter Natl Hlth Serv Fdn Trust, Exeter Kidney Unit, Exeter, Devon, England Univ Exeter, Sch Med, Exeter, Devon, England
- [2] Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 MicrodeletionsKIDNEY INTERNATIONAL REPORTS, 2024, 9 (08): : 2514 - 2526Buffin-Meyer, Benedicte论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, France Univ Paul Sabatier Toulouse III, Toulouse, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceRichard, Juliette论文数: 0 引用数: 0 h-index: 0机构: Toulouse Univ Hosp, Dept Pediat Internal Med Rheumatol & Nephrol, Toulouse, France Toulouse Univ Hosp, Ctr Reference Malad Renales Rares Sud Ouest SORARE, Toulouse, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceGuigonis, Vincent论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Limoges, Dept Pediat, Hop Mere Enfant, Limoges, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceWeber, Stefanie论文数: 0 引用数: 0 h-index: 0机构: Univ Marburg, Childrens Hosp, D-35037 Marburg, Germany Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceKoenig, Jens论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Gen Pediat, Munster, Germany Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, France论文数: 引用数: h-index:机构:Moussaoui, Nabila论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, France Toulouse Univ Hosp, Ctr Reference Malad Renales Rares Sud Ouest SORARE, Toulouse, France ORKID Filiere Orphan Kidney Dis, Montpellier, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceVu, Jeanne-Pierrette论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, France Univ Paul Sabatier Toulouse III, Toulouse, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceFaguer, Stanislas论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, France Univ Paul Sabatier Toulouse III, Toulouse, France Toulouse Univ Hosp, Ctr Reference Malad Renales Rares Sud Ouest SORARE, Toulouse, France Univ Hosp Toulouse, Dept Nephrol & Organ Transplantat, French Intens Care Renal Network, Toulouse, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceCasemayou, Audrey论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, France Univ Paul Sabatier Toulouse III, Toulouse, France Toulouse Univ Hosp, Ctr Reference Malad Renales Rares Sud Ouest SORARE, Toulouse, France Univ Hosp Toulouse, Dept Nephrol & Organ Transplantat, French Intens Care Renal Network, Toulouse, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FrancePrakash, Richa论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Hop Necker Enfants Malad, Serv Nephrol Pediat, Paris, France Malad Renales Hereditaires Enfant & Adulte MARHEA, Ctr Reference, Paris, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceBaudouin, Veronique论文数: 0 引用数: 0 h-index: 0机构: GHU APHP Nord Univ Paris, Robert Debre Acad Hosp, Pediat Hematol & Immunol Dept, Paris, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceHogan, Julien论文数: 0 引用数: 0 h-index: 0机构: GHU APHP Nord Univ Paris, Robert Debre Acad Hosp, Pediat Hematol & Immunol Dept, Paris, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceAlexandrou, Demi论文数: 0 引用数: 0 h-index: 0机构: Univ Coll London Med Sch, London, England Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceBockenhauer, Detlef论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Dept Renal Med, London, England Great Ormond St Hosp Children NHS Fdn Trust, Renal Unit, London, England Univ Hosp Leuven, Dept Pediat Nephrol, Leuven, Belgium Hop Femme Mere Enfant, Ctr Reference Malad Renales Rares, Hosp Civils Lyon, F-69677 Bron, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, France论文数: 引用数: h-index:机构:Ranchin, Bruno论文数: 0 引用数: 0 h-index: 0机构: Hop Femme Mere Enfant, Ctr Reference Malad Renales Rares, Hosp Civils Lyon, F-69677 Bron, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FrancePruhova, Stepanka论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Pediat, Prague, Czech Republic Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceZieg, Jakub论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Pediat, Prague, Czech Republic Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceLahoche, Annie论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Hop Jeanne Flandre, F-59037 Lille, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceOkorn, Christine论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Hosp Essen, Dept Hematol, Essen, Germany Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceAntal-Konya, Violetta论文数: 0 引用数: 0 h-index: 0机构: MTA SE Lendulet Nephrogenet Lab, Budapest, Hungary Semmelwe Univ, Dept Obstet & Gynecol, Budapest, Hungary Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceMorin, Denis论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Pediat Nephrol, Montpellier, France Ctr Hosp Univ Montpellier, Ctr Reference Malad Renales Rares Sud Ouest SORAR, Serv Pediat, Montpellier, France Univ Montpellier, Montpellier, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceBecherucci, Francesca论文数: 0 引用数: 0 h-index: 0机构: Meyer Childrens Hosp IRCCS, Nephrol & Dialysis Unit, Florence, Italy Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceHabbig, Sandra论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Univ Hosp Cologne, Fac Med, Dept Pediat, Cologne, Germany Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceLiebau, Max C.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Ctr Family Hlth, Ctr Rare Dis, Dept Pediat, Cologne, Germany Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceMauras, Mathilde论文数: 0 引用数: 0 h-index: 0机构: CHU St Etienne, Hop Nord, Dept Anatomopathol, St Etienne, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceNijenhuis, Tom论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Nephrol, Nijmegen, Netherlands Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceLlanas, Brigitte论文数: 0 引用数: 0 h-index: 0机构: Hop Pellegrin Enfants, CHU Bordeaux, Ctr Reference Malad Rares Peau, Bordeaux, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceMekahli, Djalila论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Nephrol, Leuven, Belgium Katholieke Univ Leuven, Dept Cellular & Mol Med, PKD Res Grp, Leuven, Belgium Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceThumfart, Julia论文数: 0 引用数: 0 h-index: 0机构: Charite, Dept Radiooncol, Berlin, Germany Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceToenshoff, Burkhard论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Heidelberg, Dept Nephrol, Heidelberg, Germany Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceMassella, Laura论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Hosp IRCCS, Div Nephrol, Rome, Italy Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceEckart, Philippe论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Caen, Dept Pediat, F-14033 Caen, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceCloarec, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Hop Clocheville, Serv Nephrol Hemodialyse Pediat, F-37000 Tours, France ORKID Filiere Orphan Kidney Dis, Montpellier, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceCruz, Alejandro论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall dHebron, Pediat Nephrol, Barcelona, Spain Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FrancePatzer, Ludwig论文数: 0 引用数: 0 h-index: 0机构: Krankenhaus St Elisabeth & St Barbara, Klin Kinder & Jugendmed, D-06110 Halle, Saale, Germany Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceRoussey, Gwenaelle论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Hop Mere Enfant, Serv Neonatol, Nantes, France Ctr Reference Malad Renales Rares Sud Ouest, SoRare, Toulouse, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceVrillon, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants CHRU Nancy, Serv Oncol Pediat, F-54500 Vandoeuvre Les Nancy, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceDunand, Olivier论文数: 0 引用数: 0 h-index: 0机构: CHU Reun, Hop Felix Guyon, Serv Med Interne & Dermatol, St Denis, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceBessenay, Lucie论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Estaing, Dept Maxillofacial Surg, Clermont ferrand, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceTaroni, Francesca论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS CaGranda, Osped Maggiore Policlin, Nephrol & Dialysis Unit, Milan, Italy Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceZaniew, Marcin论文数: 0 引用数: 0 h-index: 0机构: Univ Zielona Gora, Dept Pediat, Zielona Gora, Poland Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceLouillet, Ferielle论文数: 0 引用数: 0 h-index: 0机构: CHU Charles Nicolle, Dept Pediat Surg, F-76031 Rouen, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceBergmann, Carsten论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, France论文数: 引用数: h-index:机构:Eerde, Albertien M. van论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, FranceSchanstra, Joost P.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, France Univ Paul Sabatier Toulouse III, Toulouse, France Natl Inst Hlth & Med Res INSERM, Inst Cardiovasc & Metab Dis, UMR 1297, Toulouse, France论文数: 引用数: h-index:机构:
- [3] Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new caseGENE, 2014, 538 (02) : 373 - 378Palumbo, Pietro论文数: 0 引用数: 0 h-index: 0机构: IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, Italy Univ Bari, Dept Biol, Bari, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, Italy论文数: 引用数: h-index:机构:Palumbo, Orazio论文数: 0 引用数: 0 h-index: 0机构: IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Fontana, Antonina论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Dipartimento Sci Promoz Salute & Materno Infantil, Palermo, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyCarella, Massimo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, Italy论文数: 引用数: h-index:机构:
- [4] MRI Findings with Duplication of 17q12 Chromosome Region in a 17 Year OldNEUROLOGY, 2012, 78Carbunar, Olimpia论文数: 0 引用数: 0 h-index: 0机构: Univ Illinois, Chicago, IL USA Univ Illinois, Chicago, IL USABicknese, Alma论文数: 0 引用数: 0 h-index: 0机构: Univ Illinois, Chicago, IL USA Univ Illinois, Chicago, IL USA
- [5] Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12European Journal of Human Genetics, 2010, 18 : 278 - 284Sandesh Chakravarthy Sreenath Nagamani论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsAyelet Erez论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsJoseph Shen论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsChumei Li论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsElizabeth Roeder论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsSarah Cox论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsLefkothea Karaviti论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsMargret Pearson论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsSung-Hae L Kang论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsTrilochan Sahoo论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsSeema R Lalani论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsPawel Stankiewicz论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsV Reid Sutton论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsSau Wai Cheung论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human Genetics
- [6] Significant hypotonia and developmental delay: Hallmarks of a terminal deletion of chromosome 2q.AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A157 - A157Ardinger, HH论文数: 0 引用数: 0 h-index: 0机构: Univ Kansas, Med Ctr, Kansas City, KS 66103 USAPersons, DL论文数: 0 引用数: 0 h-index: 0机构: Univ Kansas, Med Ctr, Kansas City, KS 66103 USALutz, RE论文数: 0 引用数: 0 h-index: 0机构: Univ Kansas, Med Ctr, Kansas City, KS 66103 USABeattie, MA论文数: 0 引用数: 0 h-index: 0机构: Univ Kansas, Med Ctr, Kansas City, KS 66103 USA
- [7] 17q12 microdeletion syndromeBMJ CASE REPORTS, 2024, 17 (11)Bhargav, Viswanadhula S. L. V.论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci AIIMS, Dept Pediat, Mangalagiri, Andhra Pradesh, India All India Inst Med Sci AIIMS, Dept Pediat, Mangalagiri, Andhra Pradesh, IndiaVenkatachari, Mahesh论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci AIIMS, Dept Pediat, Mangalagiri, Andhra Pradesh, India All India Inst Med Sci AIIMS, Dept Pediat, Mangalagiri, Andhra Pradesh, IndiaBabu, Thirunavukkarasu Arun论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci AIIMS, Dept Pediat, Mangalagiri, Andhra Pradesh, India All India Inst Med Sci AIIMS, Dept Pediat, Mangalagiri, Andhra Pradesh, India
- [8] Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12EUROPEAN JOURNAL OF HUMAN GENETICS, 2010, 18 (03) : 278 - 284Nagamani, Sandesh Chakravarthy Sreenath论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAErez, Ayelet论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAShen, Joseph论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Cent Calif, Madera, CA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALi, Chumei论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Dept Pediat, Hamilton, ON, Canada Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USARoeder, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr San Antonio, San Antonio, TX 78229 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USACox, Sarah论文数: 0 引用数: 0 h-index: 0机构: St Josephs Hosp, Phoenix, AZ USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAKaraviti, Lefkothea论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAPearson, Margret论文数: 0 引用数: 0 h-index: 0机构: Neonatol Associates, Phoenix, AZ USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAKang, Sung-Hae L.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASahoo, Trilochan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALalani, Seema R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAStankiewicz, Pawel论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASutton, V. Reid论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USACheung, Sau Wai论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
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