Reply to Vance et al

Por Yee, Woon-Chee, Elliott, Jeffrey L., Kwon, Jennifer M., Goodfellow, Paul
Publicado em 1996

Aberrant Splicing of tau Pre-mRNA Caused by Intronic Mutations Associated with the Inherited Dementia Frontotemporal Dementia with Parkinsonism Linked to Chromosome 17

Por Jiang, Zhihong, Cote, Jocelyn, Kwon, Jennifer M., Goate, Alison M., Wu, Jane Y.
Publicado em 2000

Aberrant Splicing of tau Pre-mRNA Caused by Intronic Mutations Associated with the Inherited Dementia Frontotemporal Dementia with Parkinsonism Linked to Chromosome 17

Por Jiang, Zhihong, Cote, Jocelyn, Kwon, Jennifer M., Goate, Alison M., Wu, Jane Y.
Publicado em 2000

Classification and Natural History of the Neuronal Ceroid Lipofuscinoses

Por Mink, Jonathan W., Augustine, Erika F., Adams, Heather R., Marshall, Frederick J., Kwon, Jennifer M.
Publicado em 2013

Intraoperative EEG Predicts Postoperative Seizures in Infants with Congenital Heart Disease

Por Seltzer, Laurie E., Swartz, Michael, Kwon, Jennifer M., Burchfiel, James, Alfieris, George M., Guillet, Ronnie
Publicado em 2013

Experience, Knowledge, and Opinions about Childhood Genetic Testing in Batten Disease

Por Adams, Heather R., Rose, Katherine, Augustine, Erika F., Kwon, Jennifer M., deBlieck, Elisabeth A., Marshall, Frederick J., Vierhile, Amy, Mink, Jonathan W., Nance, Martha A.
Publicado em 2013

Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation

Por Kemper, Alex R., Brosco, Jeffrey, Comeau, Anne Marie, Green, Nancy S., Grosse, Scott D., Jones, Elizabeth, Kwon, Jennifer M., Lam, Wendy K.K., Ojodu, Jelili, Prosser, Lisa A., Tanksley, Susan
Publicado no Genet Med (2016)

Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)

Por ADAMS, HEATHER R, BECK, CHRISTOPHER A, LEVY, ERIKA, JORDAN, RACHEL, KWON, JENNIFER M, MARSHALL, FREDERICK J, VIERHILE, AMY, AUGUSTINE, ERIKA F, DE BLIECK, ELISABETH A, PEARCE, DAVID A, MINK, JONATHAN W
Publicado em 2010

Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collab...

Por de Blieck, Elisabeth A., Augustine, Erika F., Marshall, Frederick J., Adams, Heather, Cialone, Jennifer, Dure, Leon, Kwon, Jennifer M., Newhouse, Nicole, Rose, Katherine, Rothberg, Paul G., Vierhile, Amy, Mink, Jonathan W.
Publicado em 2013

CLINICAL FOLLOW-UP FOR DUCHENNE MUSCULAR DYSTROPHY NEWBORN SCREENING: A PROPOSAL

Por KWON, JENNIFER M., ABDEL-HAMID, HODA Z., AL-ZAIDY, SAMIAH A., MENDELL, JERRY R., KENNEDY, ANNIE, KINNETT, KATHI, CWIK, VALERIE A., STREET, NATALIE, BOLEN, JULIE, DAY, JOHN W., CONNOLLY, ANNE M.
Publicado no Muscle Nerve (2016)

Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy

Por Verhoeven, Kristien, De Jonghe, Peter, Coen, Katrien, Verpoorten, Nathalie, Auer-Grumbach, Michaela, Kwon, Jennifer M., FitzPatrick, David, Schmedding, Eric, De Vriendt, Els, Jacobs, An, Van Gerwen, Veerle, Wagner, Klaus, Hartung, Hans-Peter, Timmerman, Vincent
Publicado em 2003

Females Experience a More Severe Disease Course in Batten Disease

Por Cialone, Jennifer, Adams, Heather, Augustine, Erika F., Marshall, Frederick J., Kwon, Jennifer M., Newhouse, Nicole, Vierhile, Amy, Levy, Erika, Dure, Leon S., Rose, Katherine R., Ramirez-Montealegre, Denia, de Blieck, Elisabeth A., Mink, Jonathan W.
Publicado em 2011

Clinical Seizures in Neonatal Hypoxic-Ischemic Encephalopathy Have No Independent Impact on Neurodevelopmental Outcome: Secondary Analyses of Data from the Neonatal Research Networ...

Por Kwon, Jennifer M., Guillet, Ronnie, Shankaran, Seetha, Laptook, Abbot R., McDonald, Scott A., Ehrenkranz, Richard A., Tyson, Jon E., O'Shea, T. Michael, Goldberg, Ronald N., Donovan, Edward F., Fanaroff, Avroy A., Poole, W. Kenneth, Higgins, Rosemary D., Walsh, Michele C.
Publicado em 2010

Functional Variant in a Bitter-Taste Receptor (hTAS2R16) Influences Risk of Alcohol Dependence

Por Hinrichs, Anthony L., Wang, Jen C., Bufe, Bernd, Kwon, Jennifer M., Budde, John, Allen, Rebecca, Bertelsen, Sarah, Evans, Whitney, Dick, Danielle, Rice, John, Foroud, Tatiana, Nurnberger, John, Tischfield, Jay A., Kuperman, Samuel, Crowe, Raymond, Hesselbrock, Victor, Schuckit, Marc, Almasy, Laura, Porjesz, Bernice, Edenberg, Howard J., Begleiter, Henri, Meyerhof, Wolfgang, Bierut, Laura J., Goate, Alison M.
Publicado em 2006