Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature

Por Abdullah, Sarah, Reginold, William, Kiss, Courtney, Harrison, Karen J., MacKenzie, Jennifer J.
Publicado no Case Rep Pediatr (2016)

X-linked Deafness-2 (DFNX2) Phenotype Associated with a Paracentric Inversion Upstream of POU3F4

Por Anger, Gregory J., Crocker, Susan, McKenzie, Kyle, Brown, Kerry K., Morton, Cynthia C., Harrison, Karen, MacKenzie, Jennifer J.
Publicado no Am J Audiol (2014)

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

Por Yan, Kezhi, Rousseau, Justine, Littlejohn, Rebecca Okashah, Kiss, Courtney, Lehman, Anna, Rosenfeld, Jill A., Stumpel, Constance T.R., Stegmann, Alexander P.A., Robak, Laurie, Scaglia, Fernando, Nguyen, Thi Tuyet Mai, Fu, He, Ajeawung, Norbert F., Camurri, Maria Vittoria, Li, Lin, Gardham, Alice, Panis, Bianca, Almannai, Mohammed, Sacoto, Maria J. Guillen, Baskin, Berivan, Ruivenkamp, Claudia, Xia, Fan, Bi, Weimin, Cho, Megan T., Potjer, Thomas P., Santen, Gijs W.E., Parker, Michael J., Canham, Natalie, McKinnon, Margaret, Potocki, Lorraine, MacKenzie, Jennifer J., Roeder, Elizabeth R., Campeau, Philippe M., Yang, Xiang-Jiao
Publicado no Am J Hum Genet (2017)