Autosomal dominant Kenny-Caffey syndrome with congenital hypoparathyroidism, short stature and normal intellect: a case report

Por Abraham, Mary, Dong, Li, Rath, Shoshana, O’Connell, Susan, McKenzie, Fiona, Hakonarson, Hakon, Choong, Catherine S, Levine, Michael
Publicado no Int J Pediatr Endocrinol (2015)

NNT Pseudoexon Activation as a Novel Mechanism for Disease in Two Siblings With Familial Glucocorticoid Deficiency

Por Novoselova, Tatiana V., Rath, Shoshana R., Carpenter, Karen, Pachter, Nicholas, Dickinson, Jan E., Price, Glynis, Chan, Li F., Choong, Catherine S., Metherell, Louise A.
Publicado no J Clin Endocrinol Metab (2015)

Increased Body Mass Index during Therapy for Childhood Acute Lymphoblastic Leukemia: A Significant and Underestimated Complication

Por Atkinson, Helen C., Marsh, Julie A., Rath, Shoshana R., Kotecha, Rishi S., Gough, Hazel, Taylor, Mandy, Walwyn, Thomas, Gottardo, Nicholas G., Cole, Catherine H., Choong, Catherine S.
Publicado no Int J Pediatr (2015)