Transient hyponatremia of prematurity caused by mild Bartter syndrome type II: a case report

by Subhrata Verma, Rahul Chanchlani, Victoria Mok Siu, Guido Filler
Published 2020-06-01

Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type

by Sadegheh Haghshenas, Michael A. Levy, Jennifer Kerkhof, Erfan Aref-Eshghi, Haley McConkey, Tugce Balci, Victoria Mok Siu, Cindy D. Skinner, Roger E. Stevenson, Bekim Sadikovic, Charles Schwartz
Published 2021-01-01

MECP2 Mutation Interrupts Nucleolin–mTOR–P70S6K Signaling in Rett Syndrome Patients

by Carl O. Olson, Shervin Pejhan, Daniel Kroft, Kimia Sheikholeslami, Kimia Sheikholeslami, David Fuss, Marjorie Buist, Annan Ali Sher, Marc R. Del Bigio, Yehezkel Sztainberg, Victoria Mok Siu, Lee Cyn Ang, Marianne Sabourin-Felix, Tom Moss, Mojgan Rastegar
Published 2018-12-01

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

by Erfan Aref-Eshghi, Eric G. Bend, Rebecca L. Hood, Laila C. Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C. S. Nagamani, Sau Wai Cheung, Philippe M. Campeau, Chitra Prasad, Victoria Mok Siu, Lauren Brady, Mark A. Tarnopolsky, David J. Callen, A. Micheil Innes, Susan M. White, Wendy S. Meschino, Andrew Y. Shuen, Guillaume Paré, Dennis E. Bulman, Peter J. Ainsworth, Hanxin Lin, David I. Rodenhiser, Raoul C. Hennekam, Kym M. Boycott, Charles E. Schwartz, Bekim Sadikovic
Published 2018-11-01