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NOTA: è possibile cercare una corrispondenza esatta usando i doppi apici, ad es: "evoluzione della specie". Qualora si cerchi un identificativo, è consigliabile cercarlo in due modi differenti: tra apici con caratteri speciali es: "978-94-6366-274" oppure senza caratteri speciali solo come sequenza numerica: es 978946366274.
"Gluing" phenotypes together: the case of GLUT1.
2011-01-01 Valente, Enza Maria; Albanese, A.
A family study on primary blepharospasm.
2006-01-01 Defazio, G; Martino, D; Aniello, Ms; Masi, G; Abbruzzese, G; Lamberti, S; Valente, Enza Maria; Brancati, F; Livrea, P; Berardelli, A.
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
2014-01-01 S., Thomas; K. J., Wright; S. L., Corre; A., Micalizzi; M., Romani; A., Abhyankar; J., Saada; I., Perrault; J., Amiel; J., Litzler; E., Filhol; N., Elkhartoufi; M., Kwong; J., Casanova; N., Boddaert; W., Baehr; S., Lyonnet; A., Munnich; L., Burglen; N., Chassaing; F., Encha Ravazi; M., Vekemans; J. G., Gleeson; Valente, Enza Maria; P. K., Jackson; I. A., Drummond; S., Saunier; T., Attié Bitach
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.
2004-01-01 Brancati, F; Valente, Enza Maria; Sarkozy, A; Feher, J; Castori, M; Del Duca, P; Mingarelli, R; Pizzuti, A; Dallapiccola, B.
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study.
2000-01-01 Munchau, A; Valente, Enza Maria; Shahidi, Ga; Eunson, Lh; Hanna, Mg; Quinn, Np; Schapira, Ah; Wood, Nw; Bhatia, Kp
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR.
2004-01-01 Woods, Cg; Valente, Enza Maria; Bond, J; Roberts, E.
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome.
2012-01-01 Mory, A; Dagan, E; Illi, B; Duquesnoy, P; Mordechai, S; Shahor, I; Romani, S; Hawash Moustafa, N; Mandel, H; Valente, Enza Maria; Amselem, S; Gershoni Baruch, R.
A novel family with an unusual early-onset generalized dystonia.
2005-01-01 Fabbrini, G; Brancati, F; Vacca, L; Valente, Enza Maria; Nemeth, A; Meesaq, A; Sykes, N; Dallapiccola, B; Berardelli, A.
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies.
2005-01-01 Castori, M; Valente, Enza Maria; Clementi, M; Tormene, Ap; Brancati, F; Caputo, V; Dallapiccola, B.
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES)
2014-01-01 Ginevra, Zanni; Sabina, Barresi; Roni, Cohen; Nicola, Specchio; Lina Basel, Vanagaite; Valente, Enza Maria; Avinoam, Shuper; Federico, Vigevano; Enrico, Bertini
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
"Gluing" phenotypes together: the case of GLUT1. | 1-gen-2011 | Valente, Enza Maria; Albanese, A. | |
A family study on primary blepharospasm. | 1-gen-2006 | Defazio, G; Martino, D; Aniello, Ms; Masi, G; Abbruzzese, G; Lamberti, S; Valente, Enza Maria; Brancati, F; Livrea, P; Berardelli, A. | |
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. | 1-gen-2014 | S., Thomas; K. J., Wright; S. L., Corre; A., Micalizzi; M., Romani; A., Abhyankar; J., Saada; I., Perrault; J., Amiel; J., Litzler; E., Filhol; N., Elkhartoufi; M., Kwong; J., Casanova; N., Boddaert; W., Baehr; S., Lyonnet; A., Munnich; L., Burglen; N., Chassaing; F., Encha Ravazi; M., Vekemans; J. G., Gleeson; Valente, Enza Maria; P. K., Jackson; I. A., Drummond; S., Saunier; T., Attié Bitach | |
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. | 1-gen-2004 | Brancati, F; Valente, Enza Maria; Sarkozy, A; Feher, J; Castori, M; Del Duca, P; Mingarelli, R; Pizzuti, A; Dallapiccola, B. | |
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. | 1-gen-2000 | Munchau, A; Valente, Enza Maria; Shahidi, Ga; Eunson, Lh; Hanna, Mg; Quinn, Np; Schapira, Ah; Wood, Nw; Bhatia, Kp | |
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR. | 1-gen-2004 | Woods, Cg; Valente, Enza Maria; Bond, J; Roberts, E. | |
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome. | 1-gen-2012 | Mory, A; Dagan, E; Illi, B; Duquesnoy, P; Mordechai, S; Shahor, I; Romani, S; Hawash Moustafa, N; Mandel, H; Valente, Enza Maria; Amselem, S; Gershoni Baruch, R. | |
A novel family with an unusual early-onset generalized dystonia. | 1-gen-2005 | Fabbrini, G; Brancati, F; Vacca, L; Valente, Enza Maria; Nemeth, A; Meesaq, A; Sykes, N; Dallapiccola, B; Berardelli, A. | |
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. | 1-gen-2005 | Castori, M; Valente, Enza Maria; Clementi, M; Tormene, Ap; Brancati, F; Caputo, V; Dallapiccola, B. | |
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES) | 1-gen-2014 | Ginevra, Zanni; Sabina, Barresi; Roni, Cohen; Nicola, Specchio; Lina Basel, Vanagaite; Valente, Enza Maria; Avinoam, Shuper; Federico, Vigevano; Enrico, Bertini |
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Opzioni
Scopri
Tipologia
- 1 Contributo su Rivista 162
- 1 Contributo su Rivista::1.1.2 Ar... 162
Data di pubblicazione
- 2010 - 2015 68
- 2000 - 2009 82
- 1996 - 1999 12
Rivista
- MOVEMENT DISORDERS 32
- ANNALS OF NEUROLOGY 10
- HUMAN MUTATION 9
- NEUROLOGY 8
- AMERICAN JOURNAL OF HUMAN GENETICS 7
- JOURNAL OF NEUROLOGY, NEUROSURGER... 6
- NATURE GENETICS 6
- ORPHANET JOURNAL OF RARE DISEASES 5
- EUROPEAN JOURNAL OF HUMAN GENETICS 4
- JOURNAL OF MEDICAL GENETICS 4
Keyword
- Humans 3
- Cerebellar Diseases 2
- Cystic 2
- Eye Abnormalities 2
- Female 2
- Kidney Diseases 2
- Male 2
- Mutation 2
- Retina 2
- abnormalities 1
Lingua
- eng 106
- und 44
- ita 2
Accesso al fulltext
- no fulltext 162