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141by Rakhmanov Yeltay, Maltese Paolo Enrico, Paolacci Stefano, Marinelli Carla, Mattassi Raul Ettore, Amato Bruno, Beccari Tommaso, Dundar Munis, Bertelli Matteo“... and genetic heterogeneity. De novo mutations associated with the onset of sporadic HHT have been reported...”
Published 2018-09-01
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142by Rakhmanov Yeltay, Maltese Paolo Enrico, Bruson Alice, Beccari Tommaso, Dundar Munis, Bertelli MatteoGet full text
Published 2018-09-01
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143by Rakhmanov Yeltay, Maltese Paolo Enrico, Paolacci Stefano, Marinelli Carla, Castori Marco, Beccari Tommaso, Dundar Munis, Bertelli Matteo“... disorders are clinically and genetically heterogeneous and have variable prognosis. They may have autosomal...”
Published 2018-09-01
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144by Rakhmanov Yeltay, Maltese Paolo Enrico, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Bertelli MatteoGet full text
Published 2018-09-01
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145by Rakhmanov Yeltay, Maltese Paolo Enrico, Fanelli Francesca, Beccari Tommaso, Dundar Munis, Bertelli MatteoGet full text
Published 2018-09-01
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146by Rakhmanov Yeltay, Maltese Paolo Enrico, Paolacci Stefano, Fanelli Francesca, Beccari Tommaso, Dundar Munis, Bertelli MatteoGet full text
Published 2018-09-01
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147by Rakhmanov Yeltay, Maltese Paolo Enrico, Zulian Alessandra, Paolacci Stefano, Beccari Tommaso, Dundar Munis, Bertelli MatteoGet full text
Published 2018-09-01
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148“... the control of a highly regulated genetic program. In the last decade, the use of mutants with different...”
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149by Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Ziccardi Lucia, Bertelli Matteo“... utility of the genetic test for Sorsby’s fundus dystrophy (SFD). SFD is caused by variations in the TIMP3...”
Published 2017-10-01
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150by Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo“... utility of genetic testing for enhanced S-cone syndrome (ESCS). The disease has autosomal recessive...”
Published 2017-10-01
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151by Abeshi Andi, Bruson Alice, Beccari Tommaso, Dundar Munis, Ziccardi Lucia, Bertelli Matteo“... utility of the genetic test for Bietti crystalline dystrophy (BCD). The disease has autosomal recessive...”
Published 2017-10-01
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152by Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo“... utility of genetic testing for familial exudative vitreoretinopathy (FEVR). There is insufficient data...”
Published 2017-10-01
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153“.... Therefore, the aim was to study the lipid metabolism within red clover/ryegrass mixtures in lab scale...”
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154by Abeshi Andi, Bruson Alice, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo“... utility of genetic testing for color vision deficiency (CVD). Deuteranopia affects 1 in 12 males...”
Published 2017-10-01
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155by Ampadu-Okyere Jackson, Mugwaneza Annick Regine, Chakrabarti Subrata, Shiyin Long“.... Recent studies indicated that genetic abnormalities play an important role in the development...”
Published 2018-12-01
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156by Shihab, Hashem Ali“...Elucidation of the functional effects of genetic variation within the human genome has...”
Published 2013
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157by Bogusław Nedoszytko, Edyta Reszka, Danuta Gutowska-Owsiak, Magdalena Trzeciak, Magdalena Lange, Justyna Jarczak, Marek Niedoszytko, Ewa Jablonska, Jan Romantowski, Dominik Strapagiel, Jarosław Skokowski, Anna Siekierzycka, Roman J. Nowicki, Iwona T. Dobrucki, Anna Zaryczańska, Leszek KalinowskiSubjects: “...genetics...”
Published 2020-09-01
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158by Rakhmanov Yeltay, Maltese Paolo Enrico, Paolacci Stefano, Marinelli Carla, Bertelli Matteo“... of genetic testing for lymphedema distichiasis (LD) syndrome. LD is inherited in an autosomal dominant manner...”
Published 2018-09-01
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159by Abeshi Andi, Fanelli Francesca, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo“... utility of genetic testing for Inherited eye misalignment (IEM). Forms of IEM associated with variations...”
Published 2017-10-01
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160by Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo“... utility of genetic testing for Stargardt macular dystrophy (STGD). STGD is mostly inherited...”
Published 2017-10-01
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