A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation

par Henry Y. Lu, Henry Y. Lu, Robert Sertori, Alejandra V. Contreras, Mark Hamer, Melina Messing, Melina Messing, Kate L. Del Bel, Elena Lopez-Rangel, Edmond S. Chan, Wingfield Rehmus, Joshua D. Milner, Kelly M. McNagny, Kelly M. McNagny, Anna Lehman, David L. Wiest, Stuart E. Turvey, Stuart E. Turvey
Publié 2021

Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department

par Abdel Maksoud M, ELsayed SM, Shatla RH, Imam AA, Elsayed RM, Mosabah AA, Sherif AM
Publié 2018

Metabolic screening and its impact in children with non-syndromic intellectual disability

par Ali YF, EL-Morshedy S, Elsayed RM, EL-sherbini AM, El-Sayed SAM, Abdrahman NIA, Imam AA
Publié 2017

Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism

par Tsang Kwok Yeung, Chan Toby Chun Hei, Yeung Matthew Chun Wing, Wong Tsz Ki, Lau Wan Ting, Mak Chloe Miu
Publié 2021