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Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
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Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

Ragge, Nicola ; Isidor, Bertrand ; Bitoun, Pierre ; Odent, Sylvie ; Giurgea, Irina ; Cogné, Benjamin ; Deb, Wallid ; Vincent, Marie ; Le Gall, Jessica ; Morton, Jenny ; Lim, Derek ; Le Meur, Guylène ; Zazo Seco, Celia ; Zafeiropoulou, Dimitra ; Bax, Dorine ; Zwijnenburg, Petra ; Arteche, Anara ; Swafiri, Saoud Tahsin ; Cleaver, Ruth ; McEntagart, Meriel ; Kini, Usha ; Newman, William ; Ayuso, Carmen ; Corton, Marta ; Herenger, Yvan ; Jeanne, Médéric ; Calvas, Patrick ; Chassaing, Nicolas

Human genetics, 2019-09, Vol.138 (8-9), p.1051-1069 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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2
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients
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Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

Inoue, Takanobu ; Nakamura, Akie ; Iwahashi-Odano, Megumi ; Tanase-Nakao, Kanako ; Matsubara, Keiko ; Nishioka, Junko ; Maruo, Yoshihiro ; Hasegawa, Yukihiro ; Suzumura, Hiroshi ; Sato, Seiji ; Kobayashi, Yoshiyuki ; Murakami, Nobuyuki ; Nakabayashi, Kazuhiko ; Yamazawa, Kazuki ; Fuke, Tomoko ; Narumi, Satoshi ; Oka, Akira ; Ogata, Tsutomu ; Fukami, Maki ; Kagami, Masayo

Clinical epigenetics, 2020-06, Vol.12 (1), p.86-86, Article 86 [Periódico revisado por pares]

Germany: BioMed Central Ltd

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3
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies
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New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

Ceroni, Fabiola ; Aguilera-Garcia, Domingo ; Chassaing, Nicolas ; Bax, Dorine Arjanne ; Blanco-Kelly, Fiona ; Ramos, Patricia ; Tarilonte, Maria ; Villaverde, Cristina ; da Silva, Luciana Rodrigues Jacy ; Ballesta-Martínez, Maria Juliana ; Sanchez-Soler, Maria Jose ; Holt, Richard James ; Cooper-Charles, Lisa ; Bruty, Jonathan ; Wallis, Yvonne ; McMullan, Dominic ; Hoffman, Jonathan ; Bunyan, David ; Stewart, Alison ; Stewart, Helen ; Lachlan, Katherine ; Fryer, Alan ; McKay, Victoria ; Roume, Joëlle ; Dureau, Pascal ; Saggar, Anand ; Griffiths, Michael ; Calvas, Patrick ; Ayuso, Carmen ; Corton, Marta ; Ragge, Nicola K

Human genetics, 2019-09, Vol.138 (8-9), p.1027-1042 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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4
Fibrinogen as a key regulator of inflammation in disease
Fibrinogen as a key regulator of inflammation in disease
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Fibrinogen as a key regulator of inflammation in disease

Davalos, Dimitrios ; Akassoglou, Katerina

Seminars in immunopathology, 2012, Vol.34 (1), p.43-62 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

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5
Genomic basis of broad host range and environmental adaptability of Rhizobium tropici CIAT 899 and Rhizobium sp. PRF 81 which are used in inoculants for common bean (Phaseolus vulgaris L.)
Genomic basis of broad host range and environmental adaptability of Rhizobium tropici CIAT 899 and Rhizobium sp. PRF 81 which are used in inoculants for common bean (Phaseolus vulgaris L.)
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Genomic basis of broad host range and environmental adaptability of Rhizobium tropici CIAT 899 and Rhizobium sp. PRF 81 which are used in inoculants for common bean (Phaseolus vulgaris L.)

Ormeño-Orrillo, Ernesto ; Menna, Pâmela ; Almeida, Luiz Gonzaga P ; Ollero, Francisco Javier ; Nicolás, Marisa Fabiana ; Pains Rodrigues, Elisete ; Shigueyoshi Nakatani, Andre ; Silva Batista, Jesiane Stefânia ; Oliveira Chueire, Ligia Maria ; Souza, Rangel Celso ; Ribeiro Vasconcelos, Ana Tereza ; Megías, Manuel ; Hungria, Mariangela ; Martínez-Romero, Esperanza

BMC genomics, 2012-12, Vol.13 (1), p.735-735 [Periódico revisado por pares]

England: BioMed Central Ltd

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6
Identification and development of a functional marker of TaGW2 associated with grain weight in bread wheat (Triticum aestivum L.)
Identification and development of a functional marker of TaGW2 associated with grain weight in bread wheat (Triticum aestivum L.)
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Identification and development of a functional marker of TaGW2 associated with grain weight in bread wheat (Triticum aestivum L.)

Su, Zhenqi ; Hao, Chenyang ; Wang, Lanfen ; Dong, Yuchen ; Zhang, Xueyong

Theoretical and applied genetics, 2011-01, Vol.122 (1), p.211-223 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

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7
Genetics of familial forms of thrombocytopenia
Genetics of familial forms of thrombocytopenia
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Genetics of familial forms of thrombocytopenia

Balduini, Carlo L. ; Savoia, Anna

Human genetics, 2012-12, Vol.131 (12), p.1821-1832 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

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8
Association mapping and gene–gene interaction for stem rust resistance in CIMMYT spring wheat germplasm
Association mapping and gene–gene interaction for stem rust resistance in CIMMYT spring wheat germplasm
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Association mapping and gene–gene interaction for stem rust resistance in CIMMYT spring wheat germplasm

Yu, Long-Xi ; Lorenz, Aaron ; Rutkoski, Jessica ; Singh, Ravi P. ; Bhavani, Sridhar ; Huerta-Espino, Julio ; Sorrells, Mark E.

Theoretical and applied genetics, 2011-12, Vol.123 (8), p.1257-1268 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

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9
MicroRNA-506 inhibits tumor growth and metastasis in nasopharyngeal carcinoma through the inactivation of the Wnt/β-catenin signaling pathway by down-regulating LHX2
MicroRNA-506 inhibits tumor growth and metastasis in nasopharyngeal carcinoma through the inactivation of the Wnt/β-catenin signaling pathway by down-regulating LHX2
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MicroRNA-506 inhibits tumor growth and metastasis in nasopharyngeal carcinoma through the inactivation of the Wnt/β-catenin signaling pathway by down-regulating LHX2

Liang, Tian-Song ; Zheng, Ying-Juan ; Wang, Juan ; Zhao, Jing-Yi ; Yang, Dao-Ke ; Liu, Zhang-Suo

Journal of experimental & clinical cancer research, 2019-02, Vol.38 (1), p.97-97 [Periódico revisado por pares]

England: BioMed Central

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10
Intelectin 1 suppresses the growth, invasion and metastasis of neuroblastoma cells through up-regulation of N-myc downstream regulated gene 2
Intelectin 1 suppresses the growth, invasion and metastasis of neuroblastoma cells through up-regulation of N-myc downstream regulated gene 2
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Intelectin 1 suppresses the growth, invasion and metastasis of neuroblastoma cells through up-regulation of N-myc downstream regulated gene 2

Li, Dan ; Mei, Hong ; Pu, Jiarui ; Xiang, Xuan ; Zhao, Xiang ; Qu, Hongxia ; Huang, Kai ; Zheng, Liduan ; Tong, Qiangsong

Molecular cancer, 2015-02, Vol.14 (1), p.47-47, Article 47 [Periódico revisado por pares]

England: BioMed Central Ltd

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