| Title : First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene - Felhi_2022_Int.J.Dev.Neurosci_82_736 |
| Author(s) : Felhi R , Monastiri K , Ben Hamida H , Ammar M , Chioukh FZ , Tabarki B , Chouchen J , Fakhfakh F , Tlili A , Mkaouar-Rebai E |
| Ref : Int J Developmental Neuroscience , 82 :736 , 2022 |
| Abstract : |
| PubMedSearch : Felhi_2022_Int.J.Dev.Neurosci_82_736 |
| PubMedID: 35943861 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene - Felhi_2022_Int.J.Dev.Neurosci_82_736 |
| Author(s) : Felhi R , Monastiri K , Ben Hamida H , Ammar M , Chioukh FZ , Tabarki B , Chouchen J , Fakhfakh F , Tlili A , Mkaouar-Rebai E |
| Ref : Int J Developmental Neuroscience , 82 :736 , 2022 |
| Abstract : |
| PubMedSearch : Felhi_2022_Int.J.Dev.Neurosci_82_736 |
| PubMedID: 35943861 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene - Felhi_2022_Int.J.Dev.Neurosci_82_736 |
| Author(s) : Felhi R , Monastiri K , Ben Hamida H , Ammar M , Chioukh FZ , Tabarki B , Chouchen J , Fakhfakh F , Tlili A , Mkaouar-Rebai E |
| Ref : Int J Developmental Neuroscience , 82 :736 , 2022 |
| Abstract : |
| PubMedSearch : Felhi_2022_Int.J.Dev.Neurosci_82_736 |
| PubMedID: 35943861 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene - Louhichi_2019_Orphanet.J.Rare.Dis_14_112 |
| Author(s) : Louhichi N , Bahloul E , Marrakchi S , Othman HB , Triki C , Aloulou K , Trabelsi L , Mahfouth N , Ayadi-Mnif Z , Keskes L , Fakhfakh F , Turki H |
| Ref : Orphanet J Rare Dis , 14 :112 , 2019 |
| Abstract : |
| PubMedSearch : Louhichi_2019_Orphanet.J.Rare.Dis_14_112 |
| PubMedID: 31118107 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene - Louhichi_2019_Orphanet.J.Rare.Dis_14_112 |
| Author(s) : Louhichi N , Bahloul E , Marrakchi S , Othman HB , Triki C , Aloulou K , Trabelsi L , Mahfouth N , Ayadi-Mnif Z , Keskes L , Fakhfakh F , Turki H |
| Ref : Orphanet J Rare Dis , 14 :112 , 2019 |
| Abstract : |
| PubMedSearch : Louhichi_2019_Orphanet.J.Rare.Dis_14_112 |
| PubMedID: 31118107 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene - Louhichi_2019_Orphanet.J.Rare.Dis_14_112 |
| Author(s) : Louhichi N , Bahloul E , Marrakchi S , Othman HB , Triki C , Aloulou K , Trabelsi L , Mahfouth N , Ayadi-Mnif Z , Keskes L , Fakhfakh F , Turki H |
| Ref : Orphanet J Rare Dis , 14 :112 , 2019 |
| Abstract : |
| PubMedSearch : Louhichi_2019_Orphanet.J.Rare.Dis_14_112 |
| PubMedID: 31118107 |
| Gene_locus related to this paper: human-ABHD5 |