共 38 条
[31]
Multiplex Ligation-Dependent Probe Amplification Improves the Detection Rate of NKX2.1 Mutations in Patients Affected by Brain-Lung-Thyroid Syndrome
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Teissier, Raphael
;
Guillot, Loic
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Carre, Aurore
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Morandini, Melina
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Stuckens, Chantal
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Ythier, Hubert
;
Munnich, Arnold
;
Szinnai, Gabor
;
de Blic, Jacques
;
Clement, Annick
;
Leger, Juliane
;
Castanet, Mireille
;
Epaud, Ralph
;
Polak, Michel
.
HORMONE RESEARCH IN PAEDIATRICS,
2012, 77 (03)
:146-151

Teissier, Raphael
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Pediat Endocrine Unit, Ctr Malad Endocriniennes Rares Croissance, FR-75743 Paris 15, France
Univ Paris 05, INSERM, U845, Paris, France Hop Necker Enfants Malad, AP HP, Pediat Endocrine Unit, Ctr Malad Endocriniennes Rares Croissance, FR-75743 Paris 15, France

Guillot, Loic
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 06, INSERM, INSERM, UMR 938, Paris, France Hop Necker Enfants Malad, AP HP, Pediat Endocrine Unit, Ctr Malad Endocriniennes Rares Croissance, FR-75743 Paris 15, France

Carre, Aurore
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, INSERM, U845, Paris, France Hop Necker Enfants Malad, AP HP, Pediat Endocrine Unit, Ctr Malad Endocriniennes Rares Croissance, FR-75743 Paris 15, France

Morandini, Melina
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Pediat Endocrine Unit, Ctr Malad Endocriniennes Rares Croissance, FR-75743 Paris 15, France
Univ Paris 05, INSERM, U845, Paris, France Hop Necker Enfants Malad, AP HP, Pediat Endocrine Unit, Ctr Malad Endocriniennes Rares Croissance, FR-75743 Paris 15, France

Stuckens, Chantal
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp, Pediat Unit, Lille, France Hop Necker Enfants Malad, AP HP, Pediat Endocrine Unit, Ctr Malad Endocriniennes Rares Croissance, FR-75743 Paris 15, France

Ythier, Hubert
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp, Pediat Unit, Roubaix, France Hop Necker Enfants Malad, AP HP, Pediat Endocrine Unit, Ctr Malad Endocriniennes Rares Croissance, FR-75743 Paris 15, France

Munnich, Arnold
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, INSERM, U871, Paris, France
Hop Necker Enfants Malad, AP HP, Dept Med Genet, FR-75743 Paris 15, France Hop Necker Enfants Malad, AP HP, Pediat Endocrine Unit, Ctr Malad Endocriniennes Rares Croissance, FR-75743 Paris 15, France

Szinnai, Gabor
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp Basel, Basel, Switzerland Hop Necker Enfants Malad, AP HP, Pediat Endocrine Unit, Ctr Malad Endocriniennes Rares Croissance, FR-75743 Paris 15, France

de Blic, Jacques
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Pediat Pulmonol Allergol Dept, FR-75743 Paris 15, France Hop Necker Enfants Malad, AP HP, Pediat Endocrine Unit, Ctr Malad Endocriniennes Rares Croissance, FR-75743 Paris 15, France

Clement, Annick
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 06, INSERM, INSERM, UMR 938, Paris, France
Hop Enfants Armand Trousseau, AP HP, Ctr Reference Malad Resp Rares, Pediat Pulmonol Dept, Paris, France Hop Necker Enfants Malad, AP HP, Pediat Endocrine Unit, Ctr Malad Endocriniennes Rares Croissance, FR-75743 Paris 15, France

Leger, Juliane
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 07, INSERM, U676, Paris, France
Hop Robert Debre, AP HP, Ctr Reference Malad Endocriniennes Rares Croissan, Pediat Endocrine Unit, F-75019 Paris, France Hop Necker Enfants Malad, AP HP, Pediat Endocrine Unit, Ctr Malad Endocriniennes Rares Croissance, FR-75743 Paris 15, France

Castanet, Mireille
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Pediat Endocrine Unit, Ctr Malad Endocriniennes Rares Croissance, FR-75743 Paris 15, France
Univ Paris 05, INSERM, U845, Paris, France Hop Necker Enfants Malad, AP HP, Pediat Endocrine Unit, Ctr Malad Endocriniennes Rares Croissance, FR-75743 Paris 15, France

Epaud, Ralph
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris Est, Fac Med, INSERM, U955,Equipe 11, Creteil, France
Ctr Hosp Intercommunal Creteil, Dept Pediat, Creteil, France Hop Necker Enfants Malad, AP HP, Pediat Endocrine Unit, Ctr Malad Endocriniennes Rares Croissance, FR-75743 Paris 15, France

论文数: 引用数:
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[32]
Multiplex ligation-dependent probe amplification assay identifies additional copy number changes compared with R-band karyotype and provide more accuracy prognostic information in myelodysplastic syndromes
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Wang, Jingya
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Ai, Xiaofei
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Qin, Tiejun
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Xu, Zefeng
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Zhang, Yue
;
Liu, Jinqin
;
Li, Bing
;
Fang, Liwei
;
Zhang, Hongli
;
Pan, Lijuan
;
Hu, Naibo
;
Qu, Shiqiang
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Cai, Wenyu
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Ru, Kun
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Jia, Yujiao
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Huang, Gang
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Xiao, Zhijian
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ONCOTARGET,
2017, 8 (01)
:1603-1612

Wang, Jingya
论文数: 0 引用数: 0
h-index: 0
机构:
Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China
Blood Dis Hosp, Peking Union Med Coll, State Key Lab Expt Hematol, Tianjin, Peoples R China Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China

Ai, Xiaofei
论文数: 0 引用数: 0
h-index: 0
机构:
Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China
Chinese Acad Med Sci, Inst Hematol, Dept Pathol, Tianjin, Peoples R China
Blood Dis Hosp, Peking Union Med Coll, Dept Pathol, Tianjin, Peoples R China Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China

Qin, Tiejun
论文数: 0 引用数: 0
h-index: 0
机构:
Chinese Acad Med Sci, MDS & MPN Ctr, Inst Hematol, Tianjin, Peoples R China
Blood Dis Hosp, MDS & MPN Ctr, Peking Union Med Coll, Tianjin, Peoples R China Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China

Xu, Zefeng
论文数: 0 引用数: 0
h-index: 0
机构:
Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China
Blood Dis Hosp, Peking Union Med Coll, State Key Lab Expt Hematol, Tianjin, Peoples R China
Chinese Acad Med Sci, MDS & MPN Ctr, Inst Hematol, Tianjin, Peoples R China
Blood Dis Hosp, MDS & MPN Ctr, Peking Union Med Coll, Tianjin, Peoples R China Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China

Zhang, Yue
论文数: 0 引用数: 0
h-index: 0
机构:
Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China
Blood Dis Hosp, Peking Union Med Coll, State Key Lab Expt Hematol, Tianjin, Peoples R China
Chinese Acad Med Sci, MDS & MPN Ctr, Inst Hematol, Tianjin, Peoples R China
Blood Dis Hosp, MDS & MPN Ctr, Peking Union Med Coll, Tianjin, Peoples R China Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China

Liu, Jinqin
论文数: 0 引用数: 0
h-index: 0
机构:
Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China
Blood Dis Hosp, Peking Union Med Coll, State Key Lab Expt Hematol, Tianjin, Peoples R China Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China

Li, Bing
论文数: 0 引用数: 0
h-index: 0
机构:
Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China
Blood Dis Hosp, Peking Union Med Coll, State Key Lab Expt Hematol, Tianjin, Peoples R China
Chinese Acad Med Sci, MDS & MPN Ctr, Inst Hematol, Tianjin, Peoples R China
Blood Dis Hosp, MDS & MPN Ctr, Peking Union Med Coll, Tianjin, Peoples R China Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China

Fang, Liwei
论文数: 0 引用数: 0
h-index: 0
机构:
Chinese Acad Med Sci, MDS & MPN Ctr, Inst Hematol, Tianjin, Peoples R China
Blood Dis Hosp, MDS & MPN Ctr, Peking Union Med Coll, Tianjin, Peoples R China Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China

Zhang, Hongli
论文数: 0 引用数: 0
h-index: 0
机构:
Chinese Acad Med Sci, MDS & MPN Ctr, Inst Hematol, Tianjin, Peoples R China
Blood Dis Hosp, MDS & MPN Ctr, Peking Union Med Coll, Tianjin, Peoples R China Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China

Pan, Lijuan
论文数: 0 引用数: 0
h-index: 0
机构:
Chinese Acad Med Sci, MDS & MPN Ctr, Inst Hematol, Tianjin, Peoples R China
Blood Dis Hosp, MDS & MPN Ctr, Peking Union Med Coll, Tianjin, Peoples R China Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China

Hu, Naibo
论文数: 0 引用数: 0
h-index: 0
机构:
Chinese Acad Med Sci, MDS & MPN Ctr, Inst Hematol, Tianjin, Peoples R China
Blood Dis Hosp, MDS & MPN Ctr, Peking Union Med Coll, Tianjin, Peoples R China Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China

Qu, Shiqiang
论文数: 0 引用数: 0
h-index: 0
机构:
Chinese Acad Med Sci, MDS & MPN Ctr, Inst Hematol, Tianjin, Peoples R China
Blood Dis Hosp, MDS & MPN Ctr, Peking Union Med Coll, Tianjin, Peoples R China Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China

Cai, Wenyu
论文数: 0 引用数: 0
h-index: 0
机构: Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China

Ru, Kun
论文数: 0 引用数: 0
h-index: 0
机构:
Chinese Acad Med Sci, Inst Hematol, Dept Pathol, Tianjin, Peoples R China
Blood Dis Hosp, Peking Union Med Coll, Dept Pathol, Tianjin, Peoples R China Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China

Jia, Yujiao
论文数: 0 引用数: 0
h-index: 0
机构:
Chinese Acad Med Sci, Inst Hematol, Dept Pathol, Tianjin, Peoples R China
Blood Dis Hosp, Peking Union Med Coll, Dept Pathol, Tianjin, Peoples R China Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China

Huang, Gang
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp, Med Ctr, Div Expt Hematol & Canc Biol, Cincinnati, OH USA Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China

Xiao, Zhijian
论文数: 0 引用数: 0
h-index: 0
机构:
Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China
Blood Dis Hosp, Peking Union Med Coll, State Key Lab Expt Hematol, Tianjin, Peoples R China
Chinese Acad Med Sci, MDS & MPN Ctr, Inst Hematol, Tianjin, Peoples R China
Blood Dis Hosp, MDS & MPN Ctr, Peking Union Med Coll, Tianjin, Peoples R China Chinese Acad Med Sci, Inst Hematol, State Key Lab Expt Hematol, Tianjin, Peoples R China
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Analysis of RET, ZEB2, EDN3 and GDNF Genomic Rearrangements in Central Congenital Hyperventilation Syndrome Patients by Multiplex Ligation-dependent Probe Amplification
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Serra, Alexandre
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Goergens, Heike
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Alhadad, Karin
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Fitze, Guido
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Schackert, Hans K.
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ANNALS OF HUMAN GENETICS,
2010, 74
:369-374

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h-index:
机构:

Goergens, Heike
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Dresden, Dept Surg Res, Dresden, Germany Univ Ulm, Dept Surg, Pediat Surg Sect, Ulm, Germany

Alhadad, Karin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Dresden, Dept Surg Res, Dresden, Germany Univ Ulm, Dept Surg, Pediat Surg Sect, Ulm, Germany

Fitze, Guido
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Dresden, Dept Pediat Surg, Dresden, Germany Univ Ulm, Dept Surg, Pediat Surg Sect, Ulm, Germany

Schackert, Hans K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Dresden, Dept Surg Res, Dresden, Germany Univ Ulm, Dept Surg, Pediat Surg Sect, Ulm, Germany
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Analysis of KAL1, FGFR1, GPR54, and NELF copy number variations by multiplex ligation dependent probe amplification in male patients with idiopathic hypogonadotropic hypogonadism
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Basaran, Yalcin
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Unal, Hilmi Umut
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Bolu, Sinasi Erol
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Sagkan, Rahsan Ilikci
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Cakar, Mustafa
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Taslipinar, Abdullah
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Ozgurtas, Taner
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Musabak, Ugur Haci
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TURKISH JOURNAL OF MEDICAL SCIENCES,
2013, 43 (05)
:726-732

Basaran, Yalcin
论文数: 0 引用数: 0
h-index: 0
机构:
Gulhane Mil Med Acad, Dept Endocrinol, Ankara, Turkey Gulhane Mil Med Acad, Dept Endocrinol, Ankara, Turkey

Unal, Hilmi Umut
论文数: 0 引用数: 0
h-index: 0
机构:
Gulhane Mil Med Acad, Dept Internal Med, Ankara, Turkey Gulhane Mil Med Acad, Dept Endocrinol, Ankara, Turkey

Bolu, Sinasi Erol
论文数: 0 引用数: 0
h-index: 0
机构:
Gulhane Mil Med Acad, Dept Endocrinol, Ankara, Turkey Gulhane Mil Med Acad, Dept Endocrinol, Ankara, Turkey

Sagkan, Rahsan Ilikci
论文数: 0 引用数: 0
h-index: 0
机构:
Gulhane Mil Med Acad, Dept Allergy & Immunol, Ankara, Turkey Gulhane Mil Med Acad, Dept Endocrinol, Ankara, Turkey

Cakar, Mustafa
论文数: 0 引用数: 0
h-index: 0
机构:
Gulhane Mil Med Acad, Dept Internal Med, Ankara, Turkey Gulhane Mil Med Acad, Dept Endocrinol, Ankara, Turkey

Taslipinar, Abdullah
论文数: 0 引用数: 0
h-index: 0
机构:
Gulhane Mil Med Acad, Dept Endocrinol, Ankara, Turkey Gulhane Mil Med Acad, Dept Endocrinol, Ankara, Turkey

Ozgurtas, Taner
论文数: 0 引用数: 0
h-index: 0
机构:
Gulhane Mil Med Acad, Dept Clin Biochem, Ankara, Turkey Gulhane Mil Med Acad, Dept Endocrinol, Ankara, Turkey

Musabak, Ugur Haci
论文数: 0 引用数: 0
h-index: 0
机构:
Gulhane Mil Med Acad, Dept Allergy & Immunol, Ankara, Turkey Gulhane Mil Med Acad, Dept Endocrinol, Ankara, Turkey
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Copy number variations in the GATA4, NKX2-5, TBX5, BMP4 CRELD1, and 22q11.2 gene regions in Chinese children with sporadic congenital heart disease
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Li, Zhetao
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Huang, Jiwei
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Liang, Biao
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Zeng, Dingyuan
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Luo, Shiqiang
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Yan, Tizhen
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Liao, Fengwen
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Huang, Jun
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Li, Jingwen
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Cai, Ren
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Deng, Xine
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Tang, Ning
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JOURNAL OF CLINICAL LABORATORY ANALYSIS,
2019, 33 (02)

Li, Zhetao
论文数: 0 引用数: 0
h-index: 0
机构:
Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China

Huang, Jiwei
论文数: 0 引用数: 0
h-index: 0
机构:
Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China

Liang, Biao
论文数: 0 引用数: 0
h-index: 0
机构:
Liuzhou Maternal & Children Healthcare Hosp, Dept Pediat Surg, Liuzhou, Peoples R China Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China

Zeng, Dingyuan
论文数: 0 引用数: 0
h-index: 0
机构:
Liuzhou Maternal & Children Healthcare Hosp, Dept Gynaecol & Obstet, Liuzhou, Peoples R China Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China

Luo, Shiqiang
论文数: 0 引用数: 0
h-index: 0
机构:
Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China

Yan, Tizhen
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h-index: 0
机构:
Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China

Liao, Fengwen
论文数: 0 引用数: 0
h-index: 0
机构:
Liuzhou Maternal & Children Healthcare Hosp, Dept Pediat Surg, Liuzhou, Peoples R China Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China

Huang, Jun
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h-index: 0
机构:
Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China

Li, Jingwen
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h-index: 0
机构:
Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China

Cai, Ren
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h-index: 0
机构:
Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China

Deng, Xine
论文数: 0 引用数: 0
h-index: 0
机构:
Liuzhou Maternal & Children Healthcare Hosp, Dept Perinatal Div, Liuzhou, Peoples R China Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China

Tang, Ning
论文数: 0 引用数: 0
h-index: 0
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Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China Liuzhou Maternal & Children Healthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China
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Analysis of RET, ZEB2, EDN3 and GDNF Genomic Rearrangements in 80 Patients with Hirschsprung Disease (Using multiplex ligation-dependent probe amplification)
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Fitze, G.
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ANNALS OF HUMAN GENETICS,
2009, 73
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Serra, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Dresden, Dept Pediat Surg, D-01304 Dresden, Germany
Tech Univ Dresden, Dept Surg Res, D-01304 Dresden, Germany Tech Univ Dresden, Dept Pediat Surg, D-01304 Dresden, Germany

Goergens, H.
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Dresden, Dept Pediat Surg, D-01304 Dresden, Germany
Tech Univ Dresden, Dept Surg Res, D-01304 Dresden, Germany Tech Univ Dresden, Dept Pediat Surg, D-01304 Dresden, Germany

Alhadad, K.
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Dresden, Dept Pediat Surg, D-01304 Dresden, Germany
Tech Univ Dresden, Dept Surg Res, D-01304 Dresden, Germany Tech Univ Dresden, Dept Pediat Surg, D-01304 Dresden, Germany

Ziegler, A.
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h-index: 0
机构:
Med Univ Lubeck, Inst Med Biometry & Stat, D-23538 Lubeck, Germany Tech Univ Dresden, Dept Pediat Surg, D-01304 Dresden, Germany

Fitze, G.
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h-index: 0
机构:
Tech Univ Dresden, Dept Pediat Surg, D-01304 Dresden, Germany
Tech Univ Dresden, Dept Surg Res, D-01304 Dresden, Germany Tech Univ Dresden, Dept Pediat Surg, D-01304 Dresden, Germany

Schackert, H. K.
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Dresden, Dept Pediat Surg, D-01304 Dresden, Germany
Tech Univ Dresden, Dept Surg Res, D-01304 Dresden, Germany Tech Univ Dresden, Dept Pediat Surg, D-01304 Dresden, Germany
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Multiplex ligation dependent probe amplification - A useful, fast and cost-effective method for identification of small supernumerary marker chromosome in children with developmental delay and congenital heart defect
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Crauciuc, George Andrei
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Tripon, Florin
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Boglis, Alina
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Fagarasan, Amalia
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Banescu, Claudia
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REVISTA ROMANA DE MEDICINA DE LABORATOR,
2018, 26 (04)
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Crauciuc, George Andrei
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h-index: 0
机构:
Univ Med Pharm Sci & Technol Targu Mures, Genet Dept, Cluj Napoca, Romania
Univ Med Pharm Sci & Technol Targu Mures, Romania Genet Lab, Ctr Adv Med & Pharmaceut Res, Cluj Napoca, Romania Univ Med Pharm Sci & Technol Targu Mures, Genet Dept, Cluj Napoca, Romania

Tripon, Florin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Pharm Sci & Technol Targu Mures, Genet Dept, Cluj Napoca, Romania
Univ Med Pharm Sci & Technol Targu Mures, Romania Genet Lab, Ctr Adv Med & Pharmaceut Res, Cluj Napoca, Romania Univ Med Pharm Sci & Technol Targu Mures, Genet Dept, Cluj Napoca, Romania

Boglis, Alina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Pharm Sci & Technol Targu Mures, Genet Dept, Cluj Napoca, Romania
Univ Med Pharm Sci & Technol Targu Mures, Romania Genet Lab, Ctr Adv Med & Pharmaceut Res, Cluj Napoca, Romania Univ Med Pharm Sci & Technol Targu Mures, Genet Dept, Cluj Napoca, Romania

Fagarasan, Amalia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Pharm Sci & Technol Targu Mures, Dept Pediat 3, Cardiol Clin Children 2, Cluj Napoca, Romania Univ Med Pharm Sci & Technol Targu Mures, Genet Dept, Cluj Napoca, Romania

Banescu, Claudia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Pharm Sci & Technol Targu Mures, Genet Dept, Cluj Napoca, Romania
Univ Med Pharm Sci & Technol Targu Mures, Romania Genet Lab, Ctr Adv Med & Pharmaceut Res, Cluj Napoca, Romania Univ Med Pharm Sci & Technol Targu Mures, Genet Dept, Cluj Napoca, Romania
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Multiplex Ligation-Dependent Probe Amplification Analysis of the NR0B1 (DAX1) Locus Enables Explanation of Phenotypic Differences in Patients with X-Linked Congenital Adrenal Hypoplasia
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Barbaro, Michela
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Bens, Susanne
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Haake, Andrea
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Peter, Michael
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Braemswig, Juergen
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Holterhus, Paul-Martin
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Pedro Lopez-Siguero, Juan
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Menken, Udo
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Mix, Monika
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Sippell, Wolfgang G.
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Wedell, Anna
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Riepe, Felix G.
.
HORMONE RESEARCH IN PAEDIATRICS,
2012, 77 (02)
:100-107

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Bens, Susanne
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Univ Kiel, Inst Human Genet, Kiel, Germany Karolinska Inst, Karolinska Univ Hosp, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden

Haake, Andrea
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Univ Kiel, Inst Human Genet, Kiel, Germany Karolinska Inst, Karolinska Univ Hosp, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden

Peter, Michael
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Screening Lab, Hannover, Germany Karolinska Inst, Karolinska Univ Hosp, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden

Braemswig, Juergen
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Univ Munster, Dept Pediat, Munster, Germany Karolinska Inst, Karolinska Univ Hosp, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden

Holterhus, Paul-Martin
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Univ Kiel, Dept Pediat, D-2300 Kiel, Germany
Univ Hosp Schleswig Holstein, Kiel, Germany Karolinska Inst, Karolinska Univ Hosp, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden

Pedro Lopez-Siguero, Juan
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Hosp Materno Infantil, Dept Pediat, Malaga, Spain Karolinska Inst, Karolinska Univ Hosp, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden

Menken, Udo
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Ruhr Univ Bochum, Dept Pediat, Bochum, Germany Karolinska Inst, Karolinska Univ Hosp, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden

Mix, Monika
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Univ Rostock, Dept Pediat, Rostock, Germany Karolinska Inst, Karolinska Univ Hosp, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden

Sippell, Wolfgang G.
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Univ Kiel, Dept Pediat, D-2300 Kiel, Germany
Univ Hosp Schleswig Holstein, Kiel, Germany Karolinska Inst, Karolinska Univ Hosp, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden

Wedell, Anna
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Karolinska Inst, Ctr Inherited Metab Dis, SE-17176 Stockholm, Sweden Karolinska Inst, Karolinska Univ Hosp, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden

Riepe, Felix G.
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Univ Kiel, Dept Pediat, D-2300 Kiel, Germany
Univ Hosp Schleswig Holstein, Kiel, Germany Karolinska Inst, Karolinska Univ Hosp, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden