Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era

por Abramovs, Nikita, Brass, Andrew, Tassabehji, May
Publicado 2020

Ancestry of the AUTS2 family–A novel group of polycomb-complex proteins involved in human neurological disease

por Sellers, Robert A., Robertson, David L., Tassabehji, May
Publicado 2020

Claudin 13, a Member of the Claudin Family Regulated in Mouse Stress Induced Erythropoiesis

por Thompson, Pamela D., Tipney, Hannah, Brass, Andy, Noyes, Harry, Kemp, Steve, Naessens, Jan, Tassabehji, May
Publicado 2010

A Role for Transcription Factor GTF2IRD2 in Executive Function in Williams-Beuren Syndrome

por Porter, Melanie A., Dobson-Stone, Carol, Kwok, John B. J., Schofield, Peter R., Beckett, William, Tassabehji, May
Publicado 2012

Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients

por Broadbent, Hannah, Farran, Emily K, Chin, Esther, Metcalfe, Kay, Tassabehji, May, Turnpenny, Peter, Sansbury, Francis, Meaburn, Emma, Karmiloff-Smith, Annette
Publicado 2014

Social Cognition in Williams Syndrome: Genotype/Phenotype Insights from Partial Deletion Patients

por Karmiloff-Smith, Annette, Broadbent, Hannah, Farran, Emily K., Longhi, Elena, D’Souza, Dean, Metcalfe, Kay, Tassabehji, May, Wu, Rachel, Senju, Atsushi, Happé, Francesca, Turnpenny, Peter, Sansbury, Francis
Publicado 2012

Opposite effects on facial morphology due to gene dosage sensitivity

por Hammond, Peter, McKee, Shane, Suttie, Michael, Allanson, Judith, Cobben, Jan-Maarten, Maas, Saskia M., Quarrell, Oliver, Smith, Ann C. M., Lewis, Suzanne, Tassabehji, May, Sisodiya, Sanjay, Mattina, Teresa, Hennekam, Raoul
Publicado 2014

GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation

por Witkos, Tomasz M., Chan, Wing Lee, Joensuu, Merja, Rhiel, Manuel, Pallister, Ed, Thomas-Oates, Jane, Mould, A. Paul, Mironov, Alex A., Biot, Christophe, Guerardel, Yann, Morelle, Willy, Ungar, Daniel, Wieland, Felix T., Jokitalo, Eija, Tassabehji, May, Kornak, Uwe, Lowe, Martin
Publicado 2019