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| Title : A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature - Lerat_2017_J.Peripher.Nerv.Syst_22_77 |
| Author(s) : Lerat J , Cintas P , Beauvais-Dzugan H , Magdelaine C , Sturtz F , Lia AS |
| Ref : J Peripher Nerv Syst , 22 :77 , 2017 |
| Abstract : Lerat_2017_J.Peripher.Nerv.Syst_22_77 |
| ESTHER : Lerat_2017_J.Peripher.Nerv.Syst_22_77 |
| PubMedSearch : Lerat_2017_J.Peripher.Nerv.Syst_22_77 |
| PubMedID: 28448692 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : CMT4D (NDRG1 mutation): genotype-phenotype correlations - Ricard_2013_J.Peripher.Nerv.Syst_18_261 |
| Author(s) : Ricard E , Mathis S , Magdelaine C , Delisle MB , Magy L , Funalot B , Vallat JM |
| Ref : J Peripher Nerv Syst , 18 :261 , 2013 |
| Abstract : Ricard_2013_J.Peripher.Nerv.Syst_18_261 |
| ESTHER : Ricard_2013_J.Peripher.Nerv.Syst_18_261 |
| PubMedSearch : Ricard_2013_J.Peripher.Nerv.Syst_18_261 |
| PubMedID: 24028195 |
| Gene_locus related to this paper: human-NDRG1 |