换一批Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
作者：
Lin, Sheng-Jia [1]
;
Vona, Barbara [2]
;
Barbalho, Patricia G. [3]
;
Kaiyrzhanov, Rauan [4]
;
Maroofian, Reza [5]
;
Petree, Cassidy [6]
;
Severino, Mariasavina [7]
;
Stanley, Valentina [8]
;
Varshney, Pratishtha [9]
;
Bahena, Paulina [10]
;
Alzahrani, Fatema [11]
;
Alhashem, Amal [12]
;
Pagnamenta, Alistair T. [13]
;
Aubertin, Gudrun [14]
;
Estrada-Veras, Juvianee I. [15]
;
Hernandez, Hector Adrian Diaz [16]
;
Mazaheri, Neda [17]
;
Oza, Andrea [18]
;
Thies, Jenny [19]
;
Renaud, Deborah L. [20]
;
Dugad, Sanmati [21]
;
McEvoy, Jennifer [22]
;
Sultan, Tipu [23]
;
Pais, Lynn S. [24]
;
Tabarki, Brahim [25]
;
Villalobos-Ramirez, Daniel [26]
;
Rad, Aboulfazl [27]
;
Galehdari, Hamid [28]
;
Ashrafzadeh, Farah [29]
;
Sahebzamani, Afsaneh [30]
;
Saeidi, Kolsoum [31]
;
Torti, Erin ;
Elloumi, Houda Z. ;
Mora, Sara ;
Palculict, Timothy B. ;
Yang, Hui ;
Wren, Jonathan D. ;
Fowler, Ben ;
Joshi, Manali ;
Behra, Martine ;
Burgess, Shawn M. ;
Nath, Swapan K. ;
Hanna, Michael G. ;
Kenna, Margaret ;
Merritt, J. Lawrence, II ;
Houlden, Henry ;
Karimiani, Ehsan Ghayoor ;
Zaki, Maha S. ;
Haaf, Thomas ;
Alkuraya, Fowzan S. ;
Gleeson, Joseph G. ;
Varshney, Gaurav K.
作者单位：
IRCCS Ist Giannina Gaslini, Neuroradiol Unit, Genoa, Italy
[1]
Univ Calif San Diego, Dept Neurosci, Rady Childrens Inst Genom Med, La Jolla, CA 92093 USA
[2]
Prince Sultan Mil Med City, Dept Pediat, Riyadh, Saudi Arabia
[3]
Oklahoma Med Res Fdn, Genes & Human Dis Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA
[4]
Kerman Univ Med Sci, Inst Neuropharmacol, Neurosci Res Ctr, Kerman, Iran
[5]
SP Pune Univ, Bioinformat Ctr, Pune, Maharashtra, India
[6]
Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104
[7]
UCL, Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England
[8]
Shahid Chamran Univ Ahvaz, Fac Sci, Dept Genet, Ahvaz, Iran
[9]
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh, Saudi Arabia
[10]
Kerman Welf Org, Pediat & Genet Counselling Ctr, Kerman, Iran
[11]
Oklahoma Med Res Fdn, Imaging Core Facil, 825 NE 13th St, Oklahoma City, OK 73104 USA
[12]
GeneDx, 207 Perry Pkwy Gaithersburg, Gaithersburg, MD USA
[13]
Harvard Med Sch, Boston Childrens Hosp, Otolaryngol & Commun Enhancement, Boston, MA 02115 USA
[14]
Victoria Gen Hosp, Dept Pathol & Lab Med, Isl Hlth, Div Med Genet, Victoria, BC, Canada
[15]
Univ Puerto Rico, Dept Neurobiol, San Juan, PR 00936 USA
[16]
Univ Oxford, Wellcome Ctr Human Genet, NIHR Biomed Res Ctr, Oxford, England
[17]
Broad Inst MIT & Harvard, Program Med & Populat Genet, Broad Ctr Mendelian Genom, Cambridge, MA
[18]
Univ Wurzburg, Bioctr, Dept Bioinformat, Wurzburg, Germany
[19]
Natl Inst Med Sci & Nutr Salvador Zubiran, Dept Gastrointestinal Endoscopy, Mexico City, DF, Mexico
[20]
Univ Washington, Dept Pediat, Biochem Genet, Seattle, WA 98195 USA
[21]
Childrens Hosp, Dept Pediat Neurol, Lahore, Pakistan
[22]
Henry M Jackson Fdn Adv Mil Med, Bethesda, MD USA
[23]
Mashhad Univ Med Sci, Dept Pediat Dis, Mashhad, Razavi Khorasan, Iran
[24]
NHGRI, Translat & Funct Genom Branch, NIH, Bethesda, MD 20892 USA
[25]
Mayo Clin, Coll Med & Sci, Dept Neurol, Rochester, MN USA
[26]
Natl Res Ctr, Human Genet & Genome Res Div, Clin Genet Dept, Cairo, Egypt
[27]
Eberhard Karls Univ Tubingen, Tubingen Hearing Res Ctr, Dept Otolaryngol Head & Neck Surg, Tubingen
[28]
Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, Germany
[29]
Seattle Childrens Hosp, Dept Biochem Genet, Seattle, WA USA
[30]
St Georges Univ London, Mol & Clin Sci Inst, Cranmer Terrace London, London, England
[31]
发布时间
2021-12-22
- 浏览3
Genetics in medicine
Genetics in medicine
1933-1943页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
