换一批Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability
第一作者：
Neuser, Sonja
作者：
Neuser, Sonja [1]
;
Brechmann, Barbara [2]
;
Heimer, Gali [3]
;
Broesse, Ines [4]
;
Schubert, Susanna [5]
;
O'Grady, Lauren [6]
;
Zech, Michael [7]
;
Srivastava, Siddharth [8]
;
Sweetser, David A. [9]
;
Dincer, Yasemin [10]
;
Mall, Volker [11]
;
Winkelmann, Juliane [12]
;
Behrends, Christian [13]
;
Darras, Basil T. [14]
;
Graham, Robert J. [15]
;
Jayakar, Parul [16]
;
Byrne, Barry [17]
;
Bar-Aluma, Bat El [18]
;
Haberman, Yael [19]
;
Szeinberg, Amir [20]
;
Aldhalaan, Hesham M. [21]
;
Hashem, Mais [22]
;
Al Tenaiji, Amal [23]
;
Ismayl, Omar [24]
;
Al Nuaimi, Asma E. [25]
;
Maher, Karima ;
Ibrahim, Shahnaz ;
Khan, Fatima ;
Houlden, Henry ;
Ramakumaran, Vijayalakshmi S. ;
Pagnamenta, Alistair T. ;
Posey, Jennifer E. ;
Lupski, James R. ;
Tan, Wen-Hann ;
ElGhazali, Gehad ;
Herman, Isabella ;
Munoz, Tatiana ;
Repetto, Gabriela M. ;
Seitz, Angelika ;
Krumbiegel, Mandy ;
Poli, Maria Cecilia ;
Kini, Usha ;
Efthymiou, Stephanie ;
Meiler, Jens ;
Maroofian, Reza ;
Alkuraya, Fowzan S. ;
Abou Jamra, Rami ;
Popp, Bernt ;
Ben-Zeev, Bruria ;
Ebrahimi-Fakhari, Darius
作者单位：
Oxford Ctr Genom Med, Oxford, England
[1]
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[2]
UCL, Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England
[3]
Sheikh Khalifa Med City, Abu Dhabi, U Arab Emirates
[4]
Univ Leipzig, Med Ctr, Inst Human Genet, Philipp Rosenthal Str 55, D-04103 Leipzig, Germany
[5]
Aga Khan Univ, Dept Paediat & Child Hlth, Karachi, Pakistan
[6]
Heidelberg Univ Hosp, Hosp Children & Adolescents, Dept Pediat, Heidelberg, Germany
[7]
Clin Alemana Univ Desarrollo, Fac Med, Santiago, Chile
[8]
Univ Florida, Powell Gene Therapy Ctr, Gainesville, FL USA
[9]
Univ Oxford, Wellcome Ctr Human Genet, NIHR Biomed Res Ctr, Oxford, England
[10]
Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
[11]
Tech Univ Munich, Dept Pediat, Social Pediat, Munich, Germany
[12]
Massachusetts Gen Hosp, Dept Pediat, Div Med Genet & Metab, Boston, MA 02114 USA
[13]
Helmholtz Zentrum Munchen, Inst Neurogenom, Munich, Germany
[14]
Friedrich Alexander Univ FAU, Inst Human Genet, Erlangen, Germany
[15]
King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Translat Genom, Riyadh, Saudi Arabia
[16]
Heidelberg Univ Hosp, Dept Diagnost & Intervent Radiol, Heidelberg, Germany
[17]
Harvard Med Sch, Boston Childrens Hosp, FM Kirby Neurobiol Ctr, Dept Neurol, Boston, MA 02115 USA
[18]
Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA
[19]
Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA
[20]
Edmond & Lily Safra Childrens Hosp, Sheba Med Ctr, Ramat Gan, Israel
[21]
Vanderbilt Univ, Dept Chem, Nashville, TN USA
[22]
Nicklaus Childrens Hosp, Miami, FL USA
[23]
Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA 02115 USA
[24]
Ludwig Maximilians Univ Munchen, Munich Cluster Syst Neurol Synergy, Munich, Germany
[25]
发布时间
2021-08-05
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Human mutation
Human mutation
762-776页
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