Search Results - "Borovik, Lior"

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene by Bekheirnia, Mir Reza, Bekheirnia, Nasim, Bainbridge, Matthew N., Gu, Shen, Coban Akdemir, Zeynep Hande, Gambin, Tomek, Janzen, Nicolette K., Jhangiani, Shalini N., Muzny, Donna M., Michael, Mini, Brewer, Eileen D., Elenberg, Ewa, Kale, Arundhati S., Riley, Alyssa A., Swartz, Sarah J., Scott, Daryl A., Yang, Yaping, Srivaths, Poyyapakkam R., Wenderfer, Scott E., Bodurtha, Joann, Applegate, Carolyn D., Velinov, Milen, Myers, Angela, Borovik, Lior, Craigen, William J., Hanchard, Neil A., Rosenfeld, Jill A., Lewis, Richard Alan, Gonzales, Edmond T., Gibbs, Richard A., Belmont, John W., Roth, David R., Eng, Christine, Braun, Michael C., Lupski, James R., Lamb, Dolores J.

“…To investigate the utility of whole-exome sequencing (WES) to define a molecular diagnosis for patients clinically diagnosed with congenital anomalies of…”
Get full text

FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability? by Myers, Angela, du Souich, Christèle, Yang, Connie L., Borovik, Lior, Mwenifumbo, Jill, Rupps, Rosemarie, Study, CAUSES, Lehman, Anna, Boerkoel, Cornelius F.

“…The forkhead box (FOX) transcription factors have roles in development, carcinogenesis, metabolism, and immunity. In humans FOXP1 mutations have been…”
Get full text

Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR by Borovik, Lior, Modaff, Peggy, Waterham, Hans R., Krentz, Anthony D., Pauli, Richard M.

“…The Lamin B receptor (LBR) gene has been described to encode a bifunctional protein. Mutations in the LBR gene can affect neutrophil segmentation and sterol…”
Get full text