المؤلفون: Ng, Bobby G, Eklund, Erik A, Shiryaev, Sergey A, Dong, Yin Y, Abbott, Mary‐Alice, Asteggiano, Carla, Bamshad, Michael J, Barr, Eileen, Bernstein, Jonathan A, Chelakkadan, Shabeed, Christodoulou, John, Chung, Wendy K, Ciliberto, Michael A, Cousin, Janice, Gardiner, Fiona, Ghosh, Suman, Graf, William D, Grunewald, Stephanie, Hammond, Katherine, Hauser, Natalie S, Hoganson, George E, Houck, Kimberly M, Kohler, Jennefer N, Morava, Eva, Larson, Austin A, Liu, Pengfei, Madathil, Sujana, McCormack, Colleen, Meeks, Naomi JL, Miller, Rebecca, Monaghan, Kristin G, Nickerson, Deborah A, Palculict, Timothy Blake, Papazoglu, Gabriela Magali, Pletcher, Beth A, Scheffer, Ingrid E, Schenone, Andrea Beatriz, Schnur, Rhonda E, Si, Yue, Rowe, Leah J, Russi, Alvaro H Serrano, Russo, Rossana Sanchez, Thabet, Farouq, Tuite, Allysa, Villanueva, María Mercedes, Wang, Raymond Y, Webster, Richard I, Wilson, Dorcas, Zalan, Alice, Network, University of Washington Center for Mendelian Genomics Undiagnosed Diseases, Wolfe, Lynne A, Rosenfeld, Jill A, Rhodes, Lindsay, Freeze, Hudson H

المصدر: Journal of Inherited Metabolic Disease. 43(6)

مصطلحات موضوعية: Pediatric, Brain Disorders, Neurosciences, Neurodegenerative, Epilepsy, Biomarkers, Child, Preschool, Congenital Disorders of Glycosylation, Diet, Ketogenic, Female, Glycosylation, Humans, Infant, Male, Mutation, N-Acetylglucosaminyltransferases, Spasms, Infantile, Transferrin, congenital disorders of glycosylation, epilepsy, N-linked glycosylation, whole exome sequencing, Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3x16x320

المؤلفون: Miyake, Christina Y., Lay, Erica J., Soler-Alfonso, Claudia, Glinton, Kevin E., Houck, Kimberly M., Tosur, Mustafa, Moran, Nancy E., Stephens, Sara B., Scaglia, Fernando, Howard, Taylor S., Kim, Jeffrey J., Pham, Tam Dam, Valdes, Santiago O., Li, Na, Murali, Chaya N., Zhang, Lilei, Kava, Maina, Yim, Deane, Beach, Cheyenne, Webster, Gregory, Liberman, Leonardo, Janson, Christopher M., Kannankeril, Prince J., Baxter, Samantha, Singer-Berk, Moriel, Wood, Jordan, Mackenzie, Samuel J., Sacher, Michael, Ghaloul-Gonzalez, Lina, Pedroza, Claudia, Morris, Shaine A., Ehsan, Saad A., Azamian, Mahshid S., Lalani, Seema R.

المصدر: Genetics in Medicine ; volume 25, issue 4, page 100352 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.11.020
https://api.elsevier.com/content/article/PII:S1098360022010577?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022010577?httpAccept=text/plain

المؤلفون: Ward, Scott, Burrage, Lindsay, Rosenfeld, Jill, Bacino, Carlos, Lee, Brendan, Craigen, William, Emrick, Lisa, Fisher, Kristen, Wadley, Alexandrea, Tsai, Chun-Hui, Benke, Paul, Sacoto, Maria Guillen, Glaser, Kimberly, Murdock, David, Rohena, Luis, Diderich, K.E.M., Bruggenwirth, H.T., Houck, Kimberly

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100376 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100376
https://api.elsevier.com/content/article/PII:S294977442300376X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S294977442300376X?httpAccept=text/plain

المؤلفون: Wiemann, Constance M, Garland, Beth H, Majumder, Mary, Sanchez-Fournier, Blanca, Babla, Jordyn, Zimmerman, Cortney T, Guzman, Marietta De, Houck, Kimberly, Walsh, Seema, Hergenroeder, Albert C

المصدر: Shared decision making with breast cancer patients – does it work? ; page A139.2-A139

الاتاحة: http://dx.doi.org/10.1136/bmjebm-2024-sdc.294
https://syndication.highwire.org/content/doi/10.1136/bmjebm-2024-SDC.294

المؤلفون: Miyake, Christina Y., Lay, Erica J., Beach, Cheyenne M., Ceresnak, Scott R., Delauz, Caridad M., Howard, Taylor S., Janson, Christopher M., Jardine, Kate, Kannankeril, Prince J., Kava, Maina, Kim, Jeffrey J., Liberman, Leonardo, Macicek, Scott L., Pham, Tam Dam, Robertson, Terry, Valdes, Santiago O., Webster, Gregory, Stephens, Sara B., Milewicz, Diana M., Azamian, Mahshid, Ehsan, Saad A., Houck, Kimberly M., Soler-Alfonso, Claudia, Glinton, Kevin E., Tosur, Mustafa, Li, Na, Xu, Weiyi, Lalani, Seema R., Zhang, Lilei

المساهمون: National Heart, Lung, and Blood Institute, American Heart Association

المصدر: Heart Rhythm ; volume 19, issue 10, page 1673-1681 ; ISSN 1547-5271

الاتاحة: http://dx.doi.org/10.1016/j.hrthm.2022.05.009
https://api.elsevier.com/content/article/PII:S154752712201966X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S154752712201966X?httpAccept=text/plain

المؤلفون: Ehsan, Saad, Lay, Erica, Soler-Alfonso, Claudia, Glinton, Kevin, Houck, Kimberly, Tosur, Mustafa, Azamian, Mahshid, Lalani, Seema, Miyake, Christina

المصدر: Genetics in Medicine ; volume 24, issue 3, page S73 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.01.153
https://api.elsevier.com/content/article/PII:S1098360022001708?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022001708?httpAccept=text/plain

المؤلفون: Mohanty, Deepankar, Houck, Kimberly M., Trandafir, Cristina, Haneef, Zulfi, Karakas, Cemal, Lee, Steven, Curry, Daniel J., Riviello, James J., Ali, Irfan

المصدر: Journal of Neurosurgery: Pediatrics; Jul2024, Vol. 34 Issue 1, p40-48, 9p

المؤلفون: Ward, Scott K, Wadley, Alexandrea, Tsai, Chun-Hui Anne, Benke, Paul J, Emrick, Lisa, Fisher, Kristen, Houck, Kimberly M, Dai, Hongzheng, Guillen Sacoto, Maria J, Craigen, William, Glaser, Kimberly, Murdock, David R, Rohena, Luis, Diderich, Karin E M, Bruggenwirth, Hennie T, Lee, Brendan, Bacino, Carlos, Burrage, Lindsay C, Rosenfeld, Jill A

المصدر: Am J Med Genet A ; ISSN:1552-4833 ; Volume:194 ; Issue:1

مصطلحات موضوعية: ZBTB47, ZNF651, developmental delay, neurodevelopmental, seizure, zinc finger

Relation: https://doi.org/10.1002/ajmg.a.63399; https://pubmed.ncbi.nlm.nih.gov/37743782; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11221546/

الاتاحة: https://doi.org/10.1002/ajmg.a.63399
https://pubmed.ncbi.nlm.nih.gov/37743782
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11221546/

المؤلفون: Wiemann, Constance, Babla, Jordyn, Garland, Beth H., Majumder, Mary, Sanchez-Fournier, Blanca, Zimmerman, Cortney T., de Guzman, Marietta, Walsh, Seema, Houck, Kimberly, Hergenroeder, Albert C.

المصدر: Journal of Adolescent Health ; volume 74, issue 3, page S19-S20 ; ISSN 1054-139X

الاتاحة: http://dx.doi.org/10.1016/j.jadohealth.2023.11.231
https://api.elsevier.com/content/article/PII:S1054139X23008121?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1054139X23008121?httpAccept=text/plain

المؤلفون: Wiemann, Constance M., Babla, Jordyn, Garland, Beth H., Majumder, Mary, Sanchez-Fournier, Blanca, de Guzman, Marietta, Zimmerman, Cortney T., Walsh, Seema, Houck, Kimberly, Hergenroeder, Albert C.

المصدر: Journal of Adolescent Health ; volume 74, issue 3, page S23 ; ISSN 1054-139X

الاتاحة: http://dx.doi.org/10.1016/j.jadohealth.2023.11.238
https://api.elsevier.com/content/article/PII:S1054139X23008194?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1054139X23008194?httpAccept=text/plain

المؤلفون: Ravindra, Vijay M., Karas, Patrick J., Lazaro, Tyler T., Coorg, Rohini, Awad, Al Wala, Patino, Ilana, McClernon, Emily E., Clarke, Dave, Cairampoma Whitehead, Laura, Anderson, Anne, Diaz-Medina, Gloria, Houck, Kimberly, Katyayan, Akshat, Masters, Laura, Nath, Audrey, Quach, Michael

المصدر: Faculty Publications

مصطلحات موضوعية: Biology

Relation: https://digitalcommons.memphis.edu/facpubs/17432; https://doi.org/10.1227/neu.0000000000002214

الاتاحة: https://digitalcommons.memphis.edu/facpubs/17432
https://doi.org/10.1227/neu.0000000000002214

المؤلفون: Ali, Irfan, Houck, Kimberly M., Sully, Krystal

المصدر: Journal of Pediatric Epilepsy ; volume 12, issue 01, page 041-049 ; ISSN 2146-457X 2146-4588

الاتاحة: http://dx.doi.org/10.1055/s-0042-1760293
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0042-1760293.pdf

المؤلفون: Ravindra, Vijay M., Ruggieri, Lucia, Gadgil, Nisha, Addison, Angela P., Patino, Ilana, Gonda, David D., Chu, Jason, Whitehead, Laura, Anderson, Anne, Diaz-Medina, Gloria, Houck, Kimberly, Katyayan, Akshat, Masters, Laura, Nath, Audrey, Quach, Michael, Riviello, James John, Seto, Elaine, Sully, Krystal Elizabeth, Agurs, Latanya, Sen, Sonali, Handoko, Maureen, Coorg, Rohini, Ali, Irfan, Ikeda, Daniel, Weiner, Howard, Curry, Daniel J.

المصدر: Stereotactic and Functional Neurosurgery ; volume 101, issue 3, page 179-187 ; ISSN 1011-6125 1423-0372

الاتاحة: http://dx.doi.org/10.1159/000528452
https://karger.com/sfn/article-pdf/101/3/179/3956617/000528452.pdf

المؤلفون: Karakas, Cemal, Houck, Kimberly, Handoko, Maureen, Trandafir, Cristina, Coorg, Rohini, Haneef, Zulfi, Riviello, James J., Weiner, Howard L., Curry, Daniel, Ali, Irfan

المصدر: Pediatric Neurology ; volume 145, page 97-101 ; ISSN 0887-8994

الاتاحة: http://dx.doi.org/10.1016/j.pediatrneurol.2023.05.008
https://api.elsevier.com/content/article/PII:S0887899423001510?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0887899423001510?httpAccept=text/plain

المؤلفون: Calame, Daniel G., Herman, Isabella, Bartlett, Brittnie, Agurs, Latanya, Tran, Brandon H., Houck, Kimberly

المصدر: Neuropediatrics ; volume 52, issue 05, page 415-416 ; ISSN 0174-304X 1439-1899

الاتاحة: http://dx.doi.org/10.1055/s-0041-1722879
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0041-1722879.pdf

المؤلفون: Calame, Daniel G., Houck, Kimberly, Lotze, Timothy, Emrick, Lisa, Parnes, Mered

المصدر: European Journal of Paediatric Neurology ; volume 31, page 21-26 ; ISSN 1090-3798

الاتاحة: http://dx.doi.org/10.1016/j.ejpn.2021.01.004
https://api.elsevier.com/content/article/PII:S1090379821000040?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1090379821000040?httpAccept=text/plain

المؤلفون: Lang, Anna, Arredondo, Maria J., Stephens, Sara, Beach, Cheyenne, Hoyt, Walter J., Meisner, Joshua, de la Uz, Caridad M., Richardson, Chalese, Blaufox, Andrew D., Webster, Gregory, Kannankeril, Prince J., Liberman, Leonardo, Janson, Christopher M., Baskar, Shankar, Mackenzie, Samuel J., Soler-Alfonso, Claudia, Glinton, Kevin E., Houck, Kimberly M., Moran, Nancy E., Zhang, Lilei

المصدر: Heart Rhythm; 2024 Supplement, Vol. 21 Issue 5, pS510-S511, 2p

المؤلفون: Chao, Hsiao-Tuan, Houck, Kimberly M., Lotze, Timothy E.

المصدر: Pediatric Demyelinating Diseases of the Central Nervous System and Their Mimics ; page 209-214 ; ISBN 9783319614052 9783319614076

الاتاحة: http://dx.doi.org/10.1007/978-3-319-61407-6_27
http://link.springer.com/content/pdf/10.1007/978-3-319-61407-6_27

المؤلفون: PON, NATALIE C., HOUCK, KIMBERLY M., MUSCAL, EYAL, IDICULA, SINDHU A.

المصدر: Journal of Psychiatric Practice ; volume 23, issue 6, page 441-445 ; ISSN 1538-1145

الاتاحة: http://dx.doi.org/10.1097/pra.0000000000000265
https://journals.lww.com/00131746-201711000-00009

المؤلفون: Ng, Bobby G., Eklund, Erik A., Shiryaev, Sergey A., Dong, Yin Y., Abbott, Mary Alice, Asteggiano, Carla Gabriela, Bamshad, Michael J., Barr, Eileen, Bernstein, Jonathan A., Chelakkadan, Shabeed, Christodoulou, John, Chung, Wendy K., Ciliberto, Michael A., Cousin, Janice, Gardiner, Fiona, Ghosh, Suman, Graf, William D., Grunewald, Stephanie, Hammond, Katherine, Hauser, Natalie S., Hoganson, George E., Houck, Kimberly M., Kohler, Jennefer N., Morava, Eva, Larson, Austin A., Liu, Pengfei, Madathil, Sujana, McCormack, Colleen, Meeks, Naomi J.L., Papazoglu, Gabriela Magali

مصطلحات موضوعية: CONGENITAL DISORDERS OF GLYCOSYLATION, EPILEPSY, N-LINKED GLYCOSYLATION, WHOLE EXOME SEQUENCING, https://purl.org/becyt/ford/1.6, https://purl.org/becyt/ford/1

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11336/131439; CONICET Digital; CONICET

الاتاحة: http://hdl.handle.net/11336/131439