| 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 : Autozygome and high throughput confirmation of disease genes candidacy - Maddirevula_2019_Genet.Med_21_736 |
| Author(s) : Maddirevula S , Alzahrani F , Al-Owain M , Al Muhaizea MA , Kayyali HR , AlHashem A , Rahbeeni Z , Al-Otaibi M , Alzaidan HI , Balobaid A , El Khashab HY , Bubshait DK , Faden M , Yamani SA , Dabbagh O , Al-Mureikhi M , Jasser AA , Alsaif HS , Alluhaydan I , Seidahmed MZ , Alabbasi BH , Almogarri I , Kurdi W , Akleh H , Qari A , Al Tala SM , Alhomaidi S , Kentab AY , Salih MA , Chedrawi A , Alameer S , Tabarki B , Shamseldin HE , Patel N , Ibrahim N , Abdulwahab F , Samira M , Goljan E , Abouelhoda M , Meyer BF , Hashem M , Shaheen R , AlShahwan S , Alfadhel M , Ben-Omran T , Al-Qattan MM , Monies D , Alkuraya FS |
| Ref : Genet Med , 21 :736 , 2019 |
| Abstract : |
| PubMedSearch : Maddirevula_2019_Genet.Med_21_736 |
| PubMedID: 30237576 |