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1
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
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Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

Sharp, A M ; Messiaen, L M ; Page, G ; Antignac, C ; Gubler, M-C ; Onuchic, L F ; Somlo, S ; Germino, G G ; Guay-Woodford, L M

Journal of medical genetics, 2005-04, Vol.42 (4), p.336-349 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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2
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
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Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

Shamseldin, Hanan E ; Alshammari, Muneera ; Al-Sheddi, Tarfa ; Salih, Mustafa A ; Alkhalidi, Hisham ; Kentab, Amal ; Repetto, Gabriela M ; Hashem, Mais ; Alkuraya, Fowzan S

Journal of medical genetics, 2012-04, Vol.49 (4), p.234-241 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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3
Cancers of Unknown Primary Origin: Real-World Clinical Outcomes and Genomic Analysis at the European Institute of Oncology
Cancers of Unknown Primary Origin: Real-World Clinical Outcomes and Genomic Analysis at the European Institute of Oncology
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Cancers of Unknown Primary Origin: Real-World Clinical Outcomes and Genomic Analysis at the European Institute of Oncology

Boscolo Bielo, Luca ; Belli, Carmen ; Crimini, Edoardo ; Repetto, Matteo ; Ascione, Liliana ; Pellizzari, Gloria ; Santoro, Celeste ; Fuorivia, Valeria ; Barberis, Massimo ; Fusco, Nicola ; Rocco, Elena Guerini ; Curigliano, Giuseppe

The oncologist (Dayton, Ohio), 2024-06, Vol.29 (6), p.504-510 [Periódico revisado por pares]

England: Oxford University Press

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4
Genomic analysis of HPV-positive versus HPV-negative oesophageal adenocarcinoma identifies a differential mutational landscape
Genomic analysis of HPV-positive versus HPV-negative oesophageal adenocarcinoma identifies a differential mutational landscape
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Genomic analysis of HPV-positive versus HPV-negative oesophageal adenocarcinoma identifies a differential mutational landscape

Rajendra, Shanmugarajah ; Wang, Bin ; Merrett, Neil ; Sharma, Prateek ; Humphris, Jeremy ; Lee, Hong Ching ; Wu, Jianmin

Journal of medical genetics, 2016-04, Vol.53 (4), p.227-231 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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5
High-resolution melting curve analysis of genomic and whole-genome amplified DNA
High-resolution melting curve analysis of genomic and whole-genome amplified DNA
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High-resolution melting curve analysis of genomic and whole-genome amplified DNA

Cho, Michael H ; Ciulla, Dawn ; Klanderman, Barbara J ; Raby, Benjamin A ; Silverman, Edwin K

Clinical chemistry (Baltimore, Md.), 2008-12, Vol.54 (12), p.2055-2058 [Periódico revisado por pares]

England

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6
Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene
Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene
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Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene

Miller, Shyra J. ; Jessen, Walter J. ; Mehta, Tapan ; Hardiman, Atira ; Sites, Emily ; Kaiser, Sergio ; Jegga, Anil G. ; Li, Hua ; Upadhyaya, Meena ; Giovannini, Marco ; Muir, David ; Wallace, Margaret R. ; Lopez, Eva ; Serra, Eduard ; Nielsen, G. Petur ; Lazaro, Conxi ; Stemmer‐Rachamimov, Anat ; Page, Grier ; Aronow, Bruce J. ; Ratner, Nancy

EMBO molecular medicine, 2009-07, Vol.1 (4), p.236-248 [Periódico revisado por pares]

Weinheim: WILEY‐VCH Verlag

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7
Genomic Analysis of ATP Efflux in Saccharomyces cerevisiae
Genomic Analysis of ATP Efflux in Saccharomyces cerevisiae
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Genomic Analysis of ATP Efflux in Saccharomyces cerevisiae

Peters, Theodore W ; Miller, Aaron W ; Tourette, Cendrine ; Agren, Hannah ; Hubbard, Alan ; Hughes, Robert E

G3 : genes - genomes - genetics, 2016-01, Vol.6 (1), p.161-170 [Periódico revisado por pares]

United States: Genetics Society of America

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8
Population Genomic Analysis of ALMS1 in Humans Reveals a Surprisingly Complex Evolutionary History
Population Genomic Analysis of ALMS1 in Humans Reveals a Surprisingly Complex Evolutionary History
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Population Genomic Analysis of ALMS1 in Humans Reveals a Surprisingly Complex Evolutionary History

Scheinfeldt, Laura B ; Biswas, Shameek ; Madeoy, Jennifer ; Connelly, Caitlin F ; Schadt, Eric E ; Akey, Joshua M

Molecular biology and evolution, 2009-06, Vol.26 (6), p.1357-1367 [Periódico revisado por pares]

United States: Oxford University Press

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9
Comprehensive genomic variation profiling of cervical intraepithelial neoplasia and cervical cancer identifies potential targets for cervical cancer early warning
Comprehensive genomic variation profiling of cervical intraepithelial neoplasia and cervical cancer identifies potential targets for cervical cancer early warning
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Comprehensive genomic variation profiling of cervical intraepithelial neoplasia and cervical cancer identifies potential targets for cervical cancer early warning

Huang, Jian ; Qian, Zhaoyang ; Gong, Yuhua ; Wang, Yanzhou ; Guan, Yanfang ; Han, Yingxin ; Yi, Xin ; Huang, Wanqiu ; Ji, Liyan ; Xu, Jiajia ; Su, Mengyuan ; Yuan, Qing ; Cui, Shujian ; Zhang, Jinling ; Bao, Chaohui ; Liu, Weilong ; Chen, Xi ; Zhang, Ming ; Gao, Xiaohuan ; Wu, Renhua ; Zhang, Yinxin ; Xu, Huicheng ; Zhu, Shida ; Zhu, Hongmei ; Yang, Ling ; Xu, Xun ; Zhou, Pingyu ; Liang, Zhiqing

Journal of medical genetics, 2019-03, Vol.56 (3), p.186-194 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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10
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy
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Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy

Yechieli, Michal ; Gulsuner, Suleyman ; Ben-Pazi, Hilla ; Fattal, Aviva ; Aran, Adi ; Kuzminsky, Alla ; Sagi, Liora ; Guttman, Dafna ; Schneebaum Sender, Nira ; Gross-Tsur, Varda ; Klopstock, Tehila ; Walsh, Tom ; Renbaum, Paul ; Zeligson, Sharon ; Shemer Meiri, Lilach ; Lev, Dorit ; Shmueli, Dorit ; Blumkin, Luba ; Lahad, Amnon ; King, Mary-Claire ; Levy, Ephrat Lahad ; Segel, Reeval

Journal of medical genetics, 2022-08, Vol.59 (8), p.759-767 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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