Quality of Life in Rare Genetic Conditions: A Systematic Review of the Literature

Por Cohen, Julie S., Biesecker, Barbara B.
Publicado em 2010

The effect of visual distraction on auditory-visual speech perception by younger and older listeners

Por Cohen, Julie I., Gordon-Salant, Sandra
Publicado no J Acoust Soc Am (2017)

Depression Among Adults with Neurofibromatosis Type 1: Prevalence and Impact on Quality of Life

Por Cohen, Julie S., Levy, Howard P., Sloan, Jennifer, Dariotis, Jacinda, Biesecker, Barbara B.
Publicado no Clin Genet (2015)

Constitutional Duplication of a Region of Chromosome Yp Encoding AMELY, PRKY, and TBL1Y : Implications for Sex Chromosome Analysis and Bone Marrow Engraftment Analysis

Por Murphy, Kathleen M., Cohen, Julie S., Goodrich, Amy, Long, Patricia P., Griffin, Constance A.
Publicado em 2007

Effects of age and hearing loss on recognition of unaccented and accented multisyllabic words

Por Gordon-Salant, Sandra, Yeni-Komshian, Grace H., Fitzgibbons, Peter J., Cohen, Julie I.
Publicado no J Acoust Soc Am (2015)

Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant

Por Lance, Eboni I, Kronenbuerger, Martin, Cohen, Julie S, Furmanski, Orion, Singer, Harvey S, Fatemi, Ali
Publicado no SAGE Open Med Case Rep (2018)

ST3GAL5-related disorders: a deficiency in ganglioside metabolism and a genetic cause of intellectual disability and choreoathetosis.

Por Gordon-Lipkin, Eliza, Cohen, Julie S., Srivastava, Siddharth, Soares, Bruno P., Levey, Eric, Fatemi, Ali
Publicado no J Child Neurol (2018)

Recognition of accented and unaccented speech in different maskers by younger and older listeners

Por Gordon-Salant, Sandra, Yeni-Komshian, Grace H., Fitzgibbons, Peter J., Cohen, Julie I., Waldroup, Christopher
Publicado em 2013

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

Por Rodan, Lance H, Cohen, Julie, Fatemi, Ali, Gillis, Tammy, Lucente, Diane, Gusella, James, Picker, Jonathan D
Publicado no Eur J Hum Genet (2016)

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

Por Rodan, Lance H, Cohen, Julie, Fatemi, Ali, Gillis, Tammy, Lucente, Diane, Gusella, James, Picker, Jonathan D
Publicado no Eur J Hum Genet (2016)

Mitochondrial DNA deletions with low-level heteroplasmy in adult-onset myopathy

Por Leung, Doris G., Cohen, Julie S., Michelle, E. Harlan, Bai, Renkui, Mammen, Andrew L., Christopher-Stine, Lisa
Publicado no J Clin Neuromuscul Dis (2018)

Monogenic Disorders that Mimic the Phenotype of Rett Syndrome

Por Srivastava, Siddharth, Desai, Sonal, Cohen, Julie, Smith-Hicks, Constance, Barañano, Kristin, Fatemi, Ali, Naidu, SakkuBai
Publicado no Neurogenetics (2018)

A Novel Variantin GABRB2 Associated with Intellectual Disability and Epilepsy

Por Srivastava, Siddharth, Cohen, Julie, Pevsner, Jonathan, Aradhya, Swaroop, McKnight, Dianalee, Butler, Elizabeth, Johnston, Michael, Fatemi, Ali
Publicado em 2014

A Diagnostic Approach for Cerebral Palsy in the Genomic Era

Por Lee, Ryan W., Poretti, Andrea, Cohen, Julie S., Levey, Eric, Gwynn, Hilary, Johnston, Michael V., Hoon, Alexander H., Fatemi, Ali
Publicado no Neuromolecular Med (2014)

High epidermal growth factor receptor immunohistochemical expression in urothelial carcinoma of the bladder is not associated with EGFR mutations in exons 19 and 21: a study using...

Por Chaux, Alcides, Cohen, Julie S., Schultz, Luciana, Albadine, Roula, Jadallah, Sana, Murphy, Kathleen M., Sharma, Rajni, Schoenberg, Mark P., Netto, George J.
Publicado em 2012

Development and validation of the Psychological Adaptation Scale (PAS): Use in six studies of adaptation to a health condition or risk

Por Biesecker, Barbara B., Erby, Lori H., Woolford, Samuel, Adcock, Jessica Young, Cohen, Julie S., Lamb, Amanda, Lewis, Katie V., Truitt, Megan, Turriff, Amy, Reeve, Bryce B.
Publicado em 2013

The Neighborhood Health Exchange: Developing a Community Partnership in Residency

Por Tartaglia, Kimberly M., Press, Valerie G., Freed, Benjamin H., Baker, Timothy, Tang, Joyce W., Cohen, Julie C., Laiteerapong, Neda, Alvarez, Kimberly, Schwartz, Mindy, Arora, Vineet M.
Publicado em 2010

De Novo KCNB1 Mutations in Epileptic Encephalopathy

Por Torkamani, Ali, Bersell, Kevin, Jorge, Benjamin S., Bjork, Robert L., Friedman, Jennifer R., Bloss, Cinnamon S., Cohen, Julie, Gupta, Siddharth, Naidu, Sakkubai, Vanoye, Carlos G., George, Alfred L., Kearney, Jennifer A.
Publicado em 2014

BRAT1 Mutations Present with a Spectrum of Clinical Severity

Por Srivastava, Siddharth, Olson, Heather E., Cohen, Julie S., Gubbels, Cynthia S., Lincoln, Sharyn, Davis, Brigette Tippin, Shahmirzadi, Layla, Gupta, Siddharth, Picker, Jonathan, Yu, Timothy W., Miller, David T., Soul, Janet S., Poretti, Andrea, Naidu, SakkuBai
Publicado no Am J Med Genet A (2016)

Loss-of-function variants in HIVEP2 are a cause of intellectual disability

Por Srivastava, Siddharth, Engels, Hartmut, Schanze, Ina, Cremer, Kirsten, Wieland, Thomas, Menzel, Moritz, Schubach, Max, Biskup, Saskia, Kreiß, Martina, Endele, Sabine, Strom, Tim M, Wieczorek, Dagmar, Zenker, Martin, Gupta, Siddharth, Cohen, Julie, Zink, Alexander M, Naidu, SakkuBai
Publicado no Eur J Hum Genet (2016)