A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant
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作者:
Beriwal, Ajay
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Army Hosp Res & Referral, Dept Pediat, Div Clin Genet, New Delhi, IndiaArmy Hosp Res & Referral, Dept Pediat, Div Clin Genet, New Delhi, India
Beriwal, Ajay
[1
]
Chauhan, Lakshita
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Army Hosp Res & Referral, Dept Pediat, Div Clin Genet, New Delhi, IndiaArmy Hosp Res & Referral, Dept Pediat, Div Clin Genet, New Delhi, India
Chauhan, Lakshita
[1
]
Kumar, Amit
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Army Hosp Res & Referral, Dept Pediat, Div Clin Genet, New Delhi, IndiaArmy Hosp Res & Referral, Dept Pediat, Div Clin Genet, New Delhi, India
Kumar, Amit
[1
]
Dwivedi, Aradhana
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Army Hosp Res & Referral, Dept Pediat, Div Clin Genet, New Delhi, India
Army Hosp Res & Referral, Dept Pediat, Div Clin Genet, New Delhi 110010, IndiaArmy Hosp Res & Referral, Dept Pediat, Div Clin Genet, New Delhi, India
Dwivedi, Aradhana
[1
,2
]
机构:
[1] Army Hosp Res & Referral, Dept Pediat, Div Clin Genet, New Delhi, India
[2] Army Hosp Res & Referral, Dept Pediat, Div Clin Genet, New Delhi 110010, India
机构:
Inst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceInst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Chretien, Manon
Karam, Adella
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Inst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, FranceInst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Karam, Adella
Brunet, Theresa
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Tech Univ Munich, Inst Human Genet, Munich, GermanyInst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Brunet, Theresa
Charles, Perrine
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Hop La Pitie Salpetriere, Serv Genet Clin & Med, Paris, FranceInst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Charles, Perrine
Darcha, Claude
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CHU Estaing, Serv Anatomopathol, Clermont Ferrand, FranceInst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Darcha, Claude
Gumus, Evren
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Mugla Sitki Kocman Univ, Med Genet Dept, Mugla, TurkiyeInst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Gumus, Evren
Isidor, Bertrand
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CHU Nantes, Serv Genet Med, Nantes, FranceInst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Isidor, Bertrand
Kahrizi, Kimia
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Univ Social Welf & Rehabil Sci, Med Genet Res Ctr, Evin Theran, IranInst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Kahrizi, Kimia
Michaud, Vincent
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CHU Bordeaux, Serv Genet Med, Bordeaux, FranceInst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Michaud, Vincent
Ogema, Renske
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Univ Med Ctr, Clin Genet, Utrecht, NetherlandsInst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Ogema, Renske
Piard, Juliette
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CHU St Jacques, Serv Genet Med, Besancon, FranceInst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Piard, Juliette
Pehlivan, Davut
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Texas Childrens Hosp, Baylor Coll Med, Pediat & Neurol, Houston, TX USAInst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Pehlivan, Davut
Raymond, Laure
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Lab Eurofins Biomnis, Lyon, FranceInst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Raymond, Laure
Rodrigues, Marcia
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CHU Lisboa Norte, Hosp Santa Maria, Serv Genet Med, Lisbon, PortugalInst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Rodrigues, Marcia
Dollfus, Helene
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Inst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceInst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Dollfus, Helene
Schafer, Elise
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Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceInst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Schafer, Elise
Colas, Pierre
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Sorbonne Univ, Stn Biol, CNRS, UMR 8227, Roscoff, FranceInst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Colas, Pierre
Muller, Jean
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Inst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
Lab Diagnost Genet, Strasbourg, FranceInst Genet Med Alsace, Lab Genet Med, UMR S 1112, Strasbourg, France
机构:
Qingdao Univ, Med Genet Dept, Affiliated Hosp, 16 Jiang Su Rd, Qingdao 266071, Peoples R China
Qingdao Univ, Affiliated Hosp, Prenatal Diag Ctr, 16 Jiang Su Rd, Qingdao 266071, Peoples R ChinaQingdao Univ, Med Genet Dept, Affiliated Hosp, 16 Jiang Su Rd, Qingdao 266071, Peoples R China
Jia, Y.
Liu, W.
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Qingdao Univ, Med Genet Dept, Affiliated Hosp, 16 Jiang Su Rd, Qingdao 266071, Peoples R China
Qingdao Univ, Affiliated Hosp, Prenatal Diag Ctr, 16 Jiang Su Rd, Qingdao 266071, Peoples R ChinaQingdao Univ, Med Genet Dept, Affiliated Hosp, 16 Jiang Su Rd, Qingdao 266071, Peoples R China
Liu, W.
Wang, J.
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Qingdao Univ, Med Genet Dept, Affiliated Hosp, 16 Jiang Su Rd, Qingdao 266071, Peoples R China
Qingdao Univ, Affiliated Hosp, Prenatal Diag Ctr, 16 Jiang Su Rd, Qingdao 266071, Peoples R ChinaQingdao Univ, Med Genet Dept, Affiliated Hosp, 16 Jiang Su Rd, Qingdao 266071, Peoples R China
Wang, J.
Zhang, R.
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Qingdao Univ, Med Genet Dept, Affiliated Hosp, 16 Jiang Su Rd, Qingdao 266071, Peoples R China
Qingdao Univ, Affiliated Hosp, Prenatal Diag Ctr, 16 Jiang Su Rd, Qingdao 266071, Peoples R ChinaQingdao Univ, Med Genet Dept, Affiliated Hosp, 16 Jiang Su Rd, Qingdao 266071, Peoples R China
Zhang, R.
Li, M.
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Qingdao Municipal Hosp Grp, Dept Urol, 5 Middle Dong Hai Rd, Qingdao 266071, Peoples R ChinaQingdao Univ, Med Genet Dept, Affiliated Hosp, 16 Jiang Su Rd, Qingdao 266071, Peoples R China
Li, M.
Liu, S.
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Qingdao Univ, Med Genet Dept, Affiliated Hosp, 16 Jiang Su Rd, Qingdao 266071, Peoples R China
Qingdao Univ, Affiliated Hosp, Prenatal Diag Ctr, 16 Jiang Su Rd, Qingdao 266071, Peoples R ChinaQingdao Univ, Med Genet Dept, Affiliated Hosp, 16 Jiang Su Rd, Qingdao 266071, Peoples R China
机构:
Shinshu Univ, Dept Med Genet, Sch Med, Matsumoto, Japan
Shinshu Univ Hosp, Ctr Med Genet, Matsumoto, JapanShinshu Univ, Dept Med Genet, Sch Med, Matsumoto, Japan
Minatogawa, Mari
Tsuji, Taichi
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Meijo Hosp, Dept Orthped, Nagoya, Japan
Toyota Kosei Hosp, Dept Orthped, Toyota, JapanShinshu Univ, Dept Med Genet, Sch Med, Matsumoto, Japan
Tsuji, Taichi
Inaba, Mie
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Cent Hosp Kasugai, Aichi Dev Disabil Ctr, Dept Pediat, Kasugai, JapanShinshu Univ, Dept Med Genet, Sch Med, Matsumoto, Japan
Inaba, Mie
Kawakami, Noriaki
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Meijo Hosp, Dept Orthped, Nagoya, Japan
Ichinomiyanishi Hosp, Dept Orthped, Ichinomiya, JapanShinshu Univ, Dept Med Genet, Sch Med, Matsumoto, Japan
Kawakami, Noriaki
Mizuno, Seiji
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Cent Hosp Kasugai, Aichi Dev Disabil Ctr, Dept Pediat, Kasugai, JapanShinshu Univ, Dept Med Genet, Sch Med, Matsumoto, Japan
Mizuno, Seiji
Kosho, Tomoki
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Shinshu Univ, Dept Med Genet, Sch Med, Matsumoto, Japan
Shinshu Univ Hosp, Ctr Med Genet, Matsumoto, Japan
Shinshu Univ, Div Clin Sequencing, Sch Med, Matsumoto, Japan
Shinshu Univ, Res Ctr Supports Adv Sci, Matsumoto, Nagano, JapanShinshu Univ, Dept Med Genet, Sch Med, Matsumoto, Japan
机构:
Chinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, 12 Jiangwangmiao St, Nanjing 210042, Peoples R ChinaChinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, 12 Jiangwangmiao St, Nanjing 210042, Peoples R China
Mo, Ran
Chen, Zhiming
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Chinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, 12 Jiangwangmiao St, Nanjing 210042, Peoples R ChinaChinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, 12 Jiangwangmiao St, Nanjing 210042, Peoples R China
Chen, Zhiming
Yang, Yong
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Chinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, 12 Jiangwangmiao St, Nanjing 210042, Peoples R ChinaChinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, 12 Jiangwangmiao St, Nanjing 210042, Peoples R China
Yang, Yong
Jiang, Yiqun
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Chinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, 12 Jiangwangmiao St, Nanjing 210042, Peoples R ChinaChinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, 12 Jiangwangmiao St, Nanjing 210042, Peoples R China
机构:
Fdn IRCCS Ca Granda Osped Maggiore Policlin, Neurol Unit, Milan, Italy
Univ Milan, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat, Milan, ItalyFdn IRCCS Ca Granda Osped Maggiore Policlin, Neurol Unit, Milan, Italy
Yahya, Vidal
Spagnolo, Francesca
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A Perrinos Hosp, Neurol Dept, Brindisi, ItalyFdn IRCCS Ca Granda Osped Maggiore Policlin, Neurol Unit, Milan, Italy
Spagnolo, Francesca
Di Maggio, Giovanni
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A Perrinos Hosp, Neurol Dept, Brindisi, ItalyFdn IRCCS Ca Granda Osped Maggiore Policlin, Neurol Unit, Milan, Italy
Di Maggio, Giovanni
Leopizzi, Emanuela
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A Perrinos Hosp, Neurol Dept, Brindisi, ItalyFdn IRCCS Ca Granda Osped Maggiore Policlin, Neurol Unit, Milan, Italy
Leopizzi, Emanuela
De Marco, Paolo
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A Perrinos Hosp, Neurol Dept, Brindisi, ItalyFdn IRCCS Ca Granda Osped Maggiore Policlin, Neurol Unit, Milan, Italy
De Marco, Paolo
Fortunato, Francesco
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Univ Milan, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat, Milan, ItalyFdn IRCCS Ca Granda Osped Maggiore Policlin, Neurol Unit, Milan, Italy
Fortunato, Francesco
Comi, Giacomo P.
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Fdn IRCCS Ca Granda Osped Maggiore Policlin, Neurol Unit, Milan, Italy
Univ Milan, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat, Milan, ItalyFdn IRCCS Ca Granda Osped Maggiore Policlin, Neurol Unit, Milan, Italy
Comi, Giacomo P.
Rini, Augusto
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A Perrinos Hosp, Neurol Dept, Brindisi, ItalyFdn IRCCS Ca Granda Osped Maggiore Policlin, Neurol Unit, Milan, Italy
Rini, Augusto
Monfrini, Edoardo
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Fdn IRCCS Ca Granda Osped Maggiore Policlin, Neurol Unit, Milan, Italy
Univ Milan, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat, Milan, ItalyFdn IRCCS Ca Granda Osped Maggiore Policlin, Neurol Unit, Milan, Italy
Monfrini, Edoardo
Di Fonzo, Alessio
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机构:
Fdn IRCCS Ca Granda Osped Maggiore Policlin, Neurol Unit, Milan, Italy
Univ Milan, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat, Milan, ItalyFdn IRCCS Ca Granda Osped Maggiore Policlin, Neurol Unit, Milan, Italy