Sfoglia per ???browse.type.metadata.subjectErc2011??? LS2_9 - Genetic epidemiology
Unexpected finding of paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother
2010 Pomponi, Maria Grazia; Pietrobono, Roberta; Neri, Caterina; Chiurazzi, Pietro; Neri, Giovanni
Unique genomic profile associated with pediatric uveal melanoma
2015 Blasi, Maria Antonietta; Orteschi, Daniela; Pagliara, Monica Maria; Coco, Giulia; Asaro, Alessia; Mule', Antonino; Petrone, Gianluigi; Zollino, Marcella
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder
2014 Zollino, Marcella; Orteschi, Daniela; Ruiter, M; Pfundt, R; Steindl, K; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela Pia Rosaria; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica Immacolata
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder
2014 Zollino, Marcella; Orteschi, Daniela; Ruiter, M; Pfundt, R; Steindl, K; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela Pia Rosaria; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica Immacolata
Using ancestry-informative markers to identify fine structure across 15 populations of European origin
2014 Gambaro, Giovanni; Wellcome Trust Case Control Consortium, 3
Using genetic variants to evaluate the causal effect of cholesterol lowering on head and neck cancer risk: A Mendelian randomization study
2021 Gormley, M.; Yarmolinsky, J.; Dudding, T.; Burrows, K.; Martin, R. M.; Thomas, S.; Tyrrell, J.; Brennan, P.; Pring, M.; Boccia, Stefania; Olshan, A. F.; Diergaarde, B.; Hung, R. J.; Liu, Guopeng; Legge, D.; Tajara, E. H.; Severino, P.; Lacko, M.; Ness, A. R.; Smith, G. D.; Vincent, E. E.; Richmond, R. C.
Utility and Challenges of Next Generation Sequencing in Pediatric Disorders
2014 Longoni, M.; Marangi, Giuseppe; Zollino, Marcella
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2010 | Unexpected finding of paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother | Pomponi, Maria Grazia; Pietrobono, Roberta; Neri, Caterina; Chiurazzi, Pietro; Neri, Giovanni | |
| 1-gen-2015 | Unique genomic profile associated with pediatric uveal melanoma | Blasi, Maria Antonietta; Orteschi, Daniela; Pagliara, Monica Maria; Coco, Giulia; Asaro, Alessia; Mule', Antonino; Petrone, Gianluigi; Zollino, Marcella | |
| 1-gen-2014 | Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder | Zollino, Marcella; Orteschi, Daniela; Ruiter, M; Pfundt, R; Steindl, K; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela Pia Rosaria; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica Immacolata | |
| 1-gen-2014 | Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder | Zollino, Marcella; Orteschi, Daniela; Ruiter, M; Pfundt, R; Steindl, K; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela Pia Rosaria; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica Immacolata | |
| 1-gen-2014 | Using ancestry-informative markers to identify fine structure across 15 populations of European origin | Gambaro, Giovanni; Wellcome Trust Case Control Consortium, 3 | |
| 1-gen-2021 | Using genetic variants to evaluate the causal effect of cholesterol lowering on head and neck cancer risk: A Mendelian randomization study | Gormley, M.; Yarmolinsky, J.; Dudding, T.; Burrows, K.; Martin, R. M.; Thomas, S.; Tyrrell, J.; Brennan, P.; Pring, M.; Boccia, Stefania; Olshan, A. F.; Diergaarde, B.; Hung, R. J.; Liu, Guopeng; Legge, D.; Tajara, E. H.; Severino, P.; Lacko, M.; Ness, A. R.; Smith, G. D.; Vincent, E. E.; Richmond, R. C. | |
| 1-gen-2014 | Utility and Challenges of Next Generation Sequencing in Pediatric Disorders | Longoni, M.; Marangi, Giuseppe; Zollino, Marcella |
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