共 31 条
[21]
Recurrent and founder mutations in the NetherlandsPlakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia
[J].
P.A. van der Zwaag
;
M.G.P.J. Cox
;
C. van der Werf
;
A.C.P. Wiesfeld
;
J.D.H. Jongbloed
;
D. Dooijes
;
H. Bikker
;
R. Jongbloed
;
A.J.H. Suurmeijer
;
M.P. van den Berg
;
R.M.W. Hofstra
;
R.N.W. Hauer
;
A.A.M. Wilde
;
J.P. van Tintelen
.
Netherlands Heart Journal,
2010, 18
:583-591

P.A. van der Zwaag
论文数: 0 引用数: 0
h-index: 0
机构: University Medical Center Groningen,Department of Genetics

M.G.P.J. Cox
论文数: 0 引用数: 0
h-index: 0
机构: University Medical Center Groningen,Department of Genetics

C. van der Werf
论文数: 0 引用数: 0
h-index: 0
机构: University Medical Center Groningen,Department of Genetics

A.C.P. Wiesfeld
论文数: 0 引用数: 0
h-index: 0
机构: University Medical Center Groningen,Department of Genetics

J.D.H. Jongbloed
论文数: 0 引用数: 0
h-index: 0
机构: University Medical Center Groningen,Department of Genetics

D. Dooijes
论文数: 0 引用数: 0
h-index: 0
机构: University Medical Center Groningen,Department of Genetics

H. Bikker
论文数: 0 引用数: 0
h-index: 0
机构: University Medical Center Groningen,Department of Genetics

R. Jongbloed
论文数: 0 引用数: 0
h-index: 0
机构: University Medical Center Groningen,Department of Genetics

A.J.H. Suurmeijer
论文数: 0 引用数: 0
h-index: 0
机构: University Medical Center Groningen,Department of Genetics

M.P. van den Berg
论文数: 0 引用数: 0
h-index: 0
机构: University Medical Center Groningen,Department of Genetics

R.M.W. Hofstra
论文数: 0 引用数: 0
h-index: 0
机构: University Medical Center Groningen,Department of Genetics

R.N.W. Hauer
论文数: 0 引用数: 0
h-index: 0
机构: University Medical Center Groningen,Department of Genetics

A.A.M. Wilde
论文数: 0 引用数: 0
h-index: 0
机构: University Medical Center Groningen,Department of Genetics

J.P. van Tintelen
论文数: 0 引用数: 0
h-index: 0
机构: University Medical Center Groningen,Department of Genetics
[22]
The BRCA1 Ashkenazi founder mutations occur on common haplotypes and are not highly correlated with anonymous single nucleotide polymorphisms likely to be used in genome-wide case-control association studies
[J].
Lutécia H Mateus Pereira
;
Marbin A Pineda
;
William H Rowe
;
Libia R Fonseca
;
Mark H Greene
;
Kenneth Offit
;
Nathan A Ellis
;
Jinghui Zhang
;
Andrew Collins
;
Jeffery P Struewing
.
BMC Genetics,
8

Lutécia H Mateus Pereira
论文数: 0 引用数: 0
h-index: 0
机构: National Cancer Institute,Laboratory of Population Genetics

Marbin A Pineda
论文数: 0 引用数: 0
h-index: 0
机构: National Cancer Institute,Laboratory of Population Genetics

William H Rowe
论文数: 0 引用数: 0
h-index: 0
机构: National Cancer Institute,Laboratory of Population Genetics

Libia R Fonseca
论文数: 0 引用数: 0
h-index: 0
机构: National Cancer Institute,Laboratory of Population Genetics

Mark H Greene
论文数: 0 引用数: 0
h-index: 0
机构: National Cancer Institute,Laboratory of Population Genetics

Kenneth Offit
论文数: 0 引用数: 0
h-index: 0
机构: National Cancer Institute,Laboratory of Population Genetics

Nathan A Ellis
论文数: 0 引用数: 0
h-index: 0
机构: National Cancer Institute,Laboratory of Population Genetics

Jinghui Zhang
论文数: 0 引用数: 0
h-index: 0
机构: National Cancer Institute,Laboratory of Population Genetics

Andrew Collins
论文数: 0 引用数: 0
h-index: 0
机构: National Cancer Institute,Laboratory of Population Genetics

Jeffery P Struewing
论文数: 0 引用数: 0
h-index: 0
机构: National Cancer Institute,Laboratory of Population Genetics
[23]
Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations
[J].
Bruno Moulard
;
Pierre Genton
;
Djamel Grid
;
Marc Jeanpierre
;
Réda Ouazzani
;
Amel Mrabet
;
Mike Morris
;
Eric LeGuern
;
Charlotte Dravet
;
François Mauguière
;
Barbara Utermann
;
Michel Baldy-Moulinier
;
Halima Belaidi
;
Françoise Bertran
;
Arnaud Biraben
;
André Ali Chérif
;
Taieb Chkili
;
Arielle Crespel
;
Françoise Darcel
;
Olivier Dulac
;
Christian Geny
;
Véronique Humbert-Claude
;
Philippe Kassiotis
;
Catherine Buresi
;
Alain Malafosse
.
Human Genetics,
2002, 111
:255-262

Bruno Moulard
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Pierre Genton
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Djamel Grid
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Marc Jeanpierre
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Réda Ouazzani
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Amel Mrabet
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Mike Morris
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Eric LeGuern
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Charlotte Dravet
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

François Mauguière
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Barbara Utermann
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Michel Baldy-Moulinier
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Halima Belaidi
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Françoise Bertran
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Arnaud Biraben
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

André Ali Chérif
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Taieb Chkili
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Arielle Crespel
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Françoise Darcel
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Olivier Dulac
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Christian Geny
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Véronique Humbert-Claude
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Philippe Kassiotis
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Catherine Buresi
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,

Alain Malafosse
论文数: 0 引用数: 0
h-index: 0
机构: Division de Neuropsychiatrie,
[24]
Recurrent and founder mutations in the Netherlands Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia
[J].
van der Zwaag, P. A.
;
Cox, M. G. P. J.
;
van der Werf, C.
;
Wiesfeld, A. C. P.
;
Jongbloed, J. D. H.
;
Dooijes, D.
;
Bikker, H.
;
Jongbloed, R.
;
Suurmeijer, A. J. H.
;
van den Berg, M. P.
;
Hofstra, R. M. W.
;
Hauer, R. N. W.
;
Wilde, A. A. M.
;
van Tintelen, J. P.
.
NETHERLANDS HEART JOURNAL,
2010, 18 (12)
:583-591

van der Zwaag, P. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands

Cox, M. G. P. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Cardiol, Utrecht, Netherlands
Interuniv Cardiol Inst Netherlands, Utrecht, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands

论文数: 引用数:
h-index:
机构:

Wiesfeld, A. C. P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Dept Cardiol, NL-9700 RB Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands

Jongbloed, J. D. H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands

Dooijes, D.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands

Bikker, H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands

Jongbloed, R.
论文数: 0 引用数: 0
h-index: 0
机构:
Maastricht Univ Med Ctr, Dept Clin Genet, Maastricht, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands

Suurmeijer, A. J. H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Dept Pathol, NL-9700 RB Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands

van den Berg, M. P.
论文数: 0 引用数: 0
h-index: 0
机构:
Interuniv Cardiol Inst Netherlands, Utrecht, Netherlands
Univ Groningen, Univ Med Ctr Groningen, Dept Cardiol, NL-9700 RB Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands

Hofstra, R. M. W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands

Hauer, R. N. W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Cardiol, Utrecht, Netherlands
Interuniv Cardiol Inst Netherlands, Utrecht, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands

Wilde, A. A. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Interuniv Cardiol Inst Netherlands, Utrecht, Netherlands
Univ Amsterdam, Acad Med Ctr, Dept Cardiol, Heart Failure Res Ctr, NL-1105 AZ Amsterdam, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands

van Tintelen, J. P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands
Interuniv Cardiol Inst Netherlands, Utrecht, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands
[25]
TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy
[J].
Zhang, Shujie
;
Qin, Haisong
;
Wang, Qingming
;
Wang, Yingfei
;
Liu, Yanhui
;
Yang, Qi
;
Luo, Jingsi
;
Qin, Zailong
;
Ji, Xiang
;
Kan, Lijuan
;
Geng, Guoxing
;
Huang, Jing
;
Wei, Shengkai
;
Chen, Qiuli
;
Shen, Yiping
;
Yuan, Haiming
;
Lai, Baoling
.
ORPHANET JOURNAL OF RARE DISEASES,
2024, 19 (01)

Zhang, Shujie
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China

Qin, Haisong
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China

Wang, Qingming
论文数: 0 引用数: 0
h-index: 0
机构:
Dongguan Maternal & Child Hlth Care Hosp, Dept Med Genet, Dongguan 523120, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China

Wang, Yingfei
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China

Liu, Yanhui
论文数: 0 引用数: 0
h-index: 0
机构:
Shenzhen Univ, Affiliated Hosp 3, Shenzhen Luohu Peoples Hosp, Shenzhen 518000, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China

Yang, Qi
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China

Luo, Jingsi
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China

Qin, Zailong
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China

Ji, Xiang
论文数: 0 引用数: 0
h-index: 0
机构:
Shenzhen Univ, Shenzhen Luohu Peoples Hosp, Affiliated Hosp 3, Dept Med Lab, Shenzhen 518000, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China

Kan, Lijuan
论文数: 0 引用数: 0
h-index: 0
机构:
Shenzhen Univ, Shenzhen Luohu Peoples Hosp, Affiliated Hosp 3, Dept Med Lab, Shenzhen 518000, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China

Geng, Guoxing
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China

Huang, Jing
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China

Wei, Shengkai
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China

Chen, Qiuli
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China

Shen, Yiping
论文数: 0 引用数: 0
h-index: 0
机构:
Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China
Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China

Yuan, Haiming
论文数: 0 引用数: 0
h-index: 0
机构:
Dongguan Maternal & Child Hlth Care Hosp, Dept Med Genet, Dongguan 523120, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China

Lai, Baoling
论文数: 0 引用数: 0
h-index: 0
机构:
Shenzhen Univ, Affiliated Hosp 3, Shenzhen Luohu Peoples Hosp, Shenzhen 518000, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Genet & Metab, Nanning 530003, Peoples R China
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Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene
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Tang, R.
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Hsiung, C.
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Wang, J-Y
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Lai, C-H
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Chien, H-T
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Liu, C-T
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Chen, H-H
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CLINICAL GENETICS,
2009, 75 (04)
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Tang, R.
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机构:
Chang Gung Mem Hosp, Dept Surg, Linkou, Taiwan Chang Gung Univ, Dept Publ Hlth, Tao Yuan 333, Taiwan

Hsiung, C.
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机构: Chang Gung Univ, Dept Publ Hlth, Tao Yuan 333, Taiwan

Wang, J-Y
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Chang Gung Mem Hosp, Dept Surg, Chiayi, Taiwan Chang Gung Univ, Dept Publ Hlth, Tao Yuan 333, Taiwan

Lai, C-H
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h-index: 0
机构:
Chang Gung Univ, Dept Publ Hlth, Tao Yuan 333, Taiwan Chang Gung Univ, Dept Publ Hlth, Tao Yuan 333, Taiwan

Chien, H-T
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h-index: 0
机构:
Chang Gung Univ, Dept Publ Hlth, Tao Yuan 333, Taiwan Chang Gung Univ, Dept Publ Hlth, Tao Yuan 333, Taiwan

Chiu, L-L
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h-index: 0
机构:
Chang Gung Univ, Dept Publ Hlth, Tao Yuan 333, Taiwan Chang Gung Univ, Dept Publ Hlth, Tao Yuan 333, Taiwan

Liu, C-T
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h-index: 0
机构:
Chang Gung Univ, Dept Publ Hlth, Tao Yuan 333, Taiwan Chang Gung Univ, Dept Publ Hlth, Tao Yuan 333, Taiwan

Chen, H-H
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h-index: 0
机构:
Chang Gung Mem Hosp, Dept Surg, Kaohsiung, Taiwan Chang Gung Univ, Dept Publ Hlth, Tao Yuan 333, Taiwan

Wang, H-M
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h-index: 0
机构:
Taichung Vet Gen Hosp, Dept Surg, Taichung, Taiwan Chang Gung Univ, Dept Publ Hlth, Tao Yuan 333, Taiwan

Chen, S-X
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h-index: 0
机构:
Kuang Tien Hosp, Dept Surg, Taichung, Taiwan Chang Gung Univ, Dept Publ Hlth, Tao Yuan 333, Taiwan

Hsieh, L-L
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Chang Gung Univ, Dept Publ Hlth, Tao Yuan 333, Taiwan Chang Gung Univ, Dept Publ Hlth, Tao Yuan 333, Taiwan
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WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study
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Yuan, J. -H.
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Hashiguchi, A.
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Sakai, N.
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Takahashi, M. P.
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Ueda, T.
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Taniguchi, A.
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Okamoto, S.
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Kanazawa, N.
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Yamamoto, Y.
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CLINICAL GENETICS,
2017, 92 (06)
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Yuan, J. -H.
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Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan

Hashiguchi, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan

Yoshimura, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan

Sakai, N.
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h-index: 0
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Osaka Univ, Grad Sch Med, Div Hlth Sci, Child Healthcare & Genet Sci Lab, Osaka, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan

Takahashi, M. P.
论文数: 0 引用数: 0
h-index: 0
机构:
Osaka Univ, Grad Sch Med, Div Hlth Sci, Dept Funct Diagnost Sci, Osaka, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan

Ueda, T.
论文数: 0 引用数: 0
h-index: 0
机构:
Kobe Univ, Grad Sch Med, Div Neurol, Kobe, Hyogo, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan

Taniguchi, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Mie Univ, Dept Neurol, Grad Sch Med, Tsu, Mie, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan

Okamoto, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Fujita Hlth Univ, Dept Rehabil Med, Nanakuri Mem Hosp, Tsu, Mie, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan

Kanazawa, N.
论文数: 0 引用数: 0
h-index: 0
机构:
Wakayama Med Univ, Dept Dermatol, Wakayama, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan

Yamamoto, Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Wakayama Med Univ, Dept Dermatol, Wakayama, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan

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Ando, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan

Hiramatsu, Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan

Okamoto, Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan

Takashima, H.
论文数: 0 引用数: 0
h-index: 0
机构:
Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima 8908520, Japan
[28]
RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutieres syndrome 3
[J].
Wang, Qingming
;
Han, Ye
;
Zhou, Xinlong
;
Cheng, ShuangXi
;
Wang, Xin
;
Chen, Xiaoli
;
Yuan, Haiming
.
CLINICAL GENETICS,
2023, 104 (02)
:259-265

Wang, Qingming
论文数: 0 引用数: 0
h-index: 0
机构:
Dongguan Maternal & Child Hlth Care Hosp, Dongguan, Peoples R China
Dongguan Maternal & Child Hlth Care Hosp, Dept Med Genet, Dongguan, Peoples R China Dongguan Maternal & Child Hlth Care Hosp, Dongguan, Peoples R China

Han, Ye
论文数: 0 引用数: 0
h-index: 0
机构:
Capital Inst Pediat, Affiliated Children Hosp, Dept Neurol, Beijing, Peoples R China Dongguan Maternal & Child Hlth Care Hosp, Dongguan, Peoples R China

Zhou, Xinlong
论文数: 0 引用数: 0
h-index: 0
机构:
Dongguan Maternal & Child Hlth Care Hosp, Dongguan, Peoples R China Dongguan Maternal & Child Hlth Care Hosp, Dongguan, Peoples R China

Cheng, ShuangXi
论文数: 0 引用数: 0
h-index: 0
机构:
Dongguan Maternal & Child Hlth Care Hosp, Dongguan, Peoples R China Dongguan Maternal & Child Hlth Care Hosp, Dongguan, Peoples R China

Wang, Xin
论文数: 0 引用数: 0
h-index: 0
机构:
Capital Inst Pediat, Affiliated Children Hosp, Dept Neurol, Beijing, Peoples R China Dongguan Maternal & Child Hlth Care Hosp, Dongguan, Peoples R China

Chen, Xiaoli
论文数: 0 引用数: 0
h-index: 0
机构:
Capital Inst Pediat, Dept Genet, Beijing, Peoples R China Dongguan Maternal & Child Hlth Care Hosp, Dongguan, Peoples R China

Yuan, Haiming
论文数: 0 引用数: 0
h-index: 0
机构:
Dongguan Maternal & Child Hlth Care Hosp, Dongguan, Peoples R China
Dongguan Maternal & Child Hlth Care Hosp, Dept Med Genet, Dongguan, Peoples R China
Dongguan Maternal & Child Hlth Care Hosp, Dept Med Genet, Dongguan 523120, Peoples R China Dongguan Maternal & Child Hlth Care Hosp, Dongguan, Peoples R China
[29]
TP53 mutation p.R337H in gastric cancer tissues of a 12-year-old male child - evidence for chimerism involving a common mutant founder haplotype: case report
[J].
Edaise M da Silva
;
Maria Isabel W Achatz
;
Ghyslaine Martel-Planche
;
André L Montagnini
;
Magali Olivier
;
Patricia A Prolla
;
Pierre Hainaut
;
Fernando A Soares
.
BMC Cancer,
11

Edaise M da Silva
论文数: 0 引用数: 0
h-index: 0
机构: Fundação Antonio Prudente,Hospital AC Camargo

Maria Isabel W Achatz
论文数: 0 引用数: 0
h-index: 0
机构: Fundação Antonio Prudente,Hospital AC Camargo

Ghyslaine Martel-Planche
论文数: 0 引用数: 0
h-index: 0
机构: Fundação Antonio Prudente,Hospital AC Camargo

André L Montagnini
论文数: 0 引用数: 0
h-index: 0
机构: Fundação Antonio Prudente,Hospital AC Camargo

Magali Olivier
论文数: 0 引用数: 0
h-index: 0
机构: Fundação Antonio Prudente,Hospital AC Camargo

Patricia A Prolla
论文数: 0 引用数: 0
h-index: 0
机构: Fundação Antonio Prudente,Hospital AC Camargo

Pierre Hainaut
论文数: 0 引用数: 0
h-index: 0
机构: Fundação Antonio Prudente,Hospital AC Camargo

Fernando A Soares
论文数: 0 引用数: 0
h-index: 0
机构: Fundação Antonio Prudente,Hospital AC Camargo
[30]
A case–control study of BRCA1 founder mutations 185delAG and 5382insC in a cohort of Egyptian ovarian cancer patients using pyrosequencing technique
[J].
Mohamed M. Rizk
;
Nour M. El-etreby
;
Lama M. El-Attar
;
Eman A. Elzyat
;
Marwa H. Saied
.
Egyptian Journal of Medical Human Genetics,
23

Mohamed M. Rizk
论文数: 0 引用数: 0
h-index: 0
机构: Alexandria University,Department of Clinical and Chemical Pathology, Faculty of Medicine

Nour M. El-etreby
论文数: 0 引用数: 0
h-index: 0
机构: Alexandria University,Department of Clinical and Chemical Pathology, Faculty of Medicine

Lama M. El-Attar
论文数: 0 引用数: 0
h-index: 0
机构: Alexandria University,Department of Clinical and Chemical Pathology, Faculty of Medicine

Eman A. Elzyat
论文数: 0 引用数: 0
h-index: 0
机构: Alexandria University,Department of Clinical and Chemical Pathology, Faculty of Medicine

Marwa H. Saied
论文数: 0 引用数: 0
h-index: 0
机构: Alexandria University,Department of Clinical and Chemical Pathology, Faculty of Medicine