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| Title : Cerebral visual impairment and intellectual disability caused by PGAP1 variants - Bosch_2015_Eur.J.Hum.Genet_23_1689 |
| Author(s) : Bosch DG , Boonstra FN , Kinoshita T , Jhangiani S , de Ligt J , Cremers FP , Lupski JR , Murakami Y , de Vries BB |
| Ref : Eur J Hum Genet , 23 :1689 , 2015 |
| Abstract : Bosch_2015_Eur.J.Hum.Genet_23_1689 |
| ESTHER : Bosch_2015_Eur.J.Hum.Genet_23_1689 |
| PubMedSearch : Bosch_2015_Eur.J.Hum.Genet_23_1689 |
| PubMedID: 25804403 |
| Title : Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom\/CMT4D - Okamoto_2014_Genet.Med_16_386 |
| Author(s) : Okamoto Y , Goksungur MT , Pehlivan D , Beck CR , Gonzaga-Jauregui C , Muzny DM , Atik MM , Carvalho CM , Matur Z , Bayraktar S , Boone PM , Akyuz K , Gibbs RA , Battaloglu E , Parman Y , Lupski JR |
| Ref : Genet Med , 16 :386 , 2014 |
| Abstract : Okamoto_2014_Genet.Med_16_386 |
| ESTHER : Okamoto_2014_Genet.Med_16_386 |
| PubMedSearch : Okamoto_2014_Genet.Med_16_386 |
| PubMedID: 24136616 |
| Gene_locus related to this paper: human-NDRG1 |
| Title : CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree - Soler-Alfonso_2014_Eur.J.Hum.Genet_22_1071 |
| Author(s) : Soler-Alfonso C , Carvalho CM , Ge J , Roney EK , Bader PI , Kolodziejska KE , Miller RM , Lupski JR , Stankiewicz P , Cheung SW , Bi W , Schaaf CP |
| Ref : Eur J Hum Genet , 22 :1071 , 2014 |
| Abstract : Soler-Alfonso_2014_Eur.J.Hum.Genet_22_1071 |
| ESTHER : Soler-Alfonso_2014_Eur.J.Hum.Genet_22_1071 |
| PubMedSearch : Soler-Alfonso_2014_Eur.J.Hum.Genet_22_1071 |
| PubMedID: 24424125 |