Identification of a Novel Homozygous SCN1B Splice-Site Variant in a Consanguineous Families With Early-Onset Epilepsy: A Case Series and Review of Literature
Muhammad, Anees; Ramzan, Shafaq; Yousaf, Hammad; Ghumman, Rafia Zafar; Ali, Farhan Bahadar; Khalily, Muhammad Athar; Ali, Asmat; Ali, Wajid; Zia, Salma; Khan, Najeeb Ullah; Sarwar, Muhammad Tahir; Toft, Matias; Iqbal, Zafar; Fatima, Ambrin.png)
Share.png)
Save Confirmation of Exome Sequencing Results Using Sanger Sequencing-Considerations in a Low-Resource SettingLouw, Nadja; Schnell, Samantha; Molatoli, Mhlekazi; Smit, Ingrid; Kerr, Robyn; Devriendt, Koen; Lumaka, Aime; Krause, Amanda; Carstens, Nadia; Lombard, Zane Share Save Homozygous Pathogenic Variant in Elongation Factor-Like 1 (EFL1) as a Causal Factor in Shwachman-Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular ManifestationsTaha, Ibrahim; Minelli, Antonella; Danesino, Cesare; Swalmeh, Abdelrahman; Huraibat, Khalil; Al-Labadi, Liana; Obar, Rema; Beshtawi, Khaled R.; Samrah, Lubna Abu; Mohammad, Yousef Awlad; Farah, Aya; Obar, Abdulrahman; Khalaf, Mutasem; Nasser, Orwa Share Save A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature ReviewMinale, Elia Marco Paolo; Martone, Stefania; Criscuolo, Chiara; Marra, Roberta; Lasorsa, Vito Alessandro; Ruggiero, Raffaella; Suero, Teresa; Capasso, Mario; Andolfo, Immacolata; Iolascon, Achille; Russo, Roberta; Pinelli, Michele Share Save Exclusion of CLIC5 as a Candidate Gene and Identification of NEFM as a Possible Novel Gene Correlated With Autosomal Recessive Pure Cerebellar Ataxia in a Highly Consanguineous FamilyMaltese, Paolo Enrico; Bonetti, Gabriele; Manara, Elena; Tanzi, Benedetta; Bernini, Andrea; Berryman, Mark A.; Tanda, Soichi; Nielsen, Corinne; Casagrande, Silvia; Ferrero, Amanda; Stano, Salvatore; Zuccarino, Riccardo; Barp, Andrea; Chiurazzi, Pietro; Bertelli, Matteo Share Save 
.png){kind=icon}
Not logged in.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
