المؤلفون: Wang, Julia M, Ho, Daniel V, Kritzer, Amy, Chan, Jefferson Y

المصدر: Human Mutation. 43(4)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, 2.1 Biological and endogenous factors, Aetiology, Failure to Thrive, Gene Expression Regulation, Genitalia, Humans, Male, Muscle Hypotonia, NF-E2-Related Factor 1, Transcription Factors, NFE2L1, dominant negative, global developmental delay, nonsense variant, transcription factor, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5wr9k04hTest

المؤلفون: D'Gama, Alissa M, Hills, Sonia, Douglas, Jessica, Young, Vanessa, Genetti, Casie A, Wojcik, Monica H, Feldman, Henry A, Yu, Timothy W, G Parker, Margaret, Agrawal, Pankaj B, VIGOR Network, Agrawal, Pankaj, Allcroft, Tyler, Bhandari, Vineet, Cantu, Luis, D’Gama, Alissa M, Honrubia, Dynio, Kritzer, Amy, Parker, Margaret, Rhein, Lawrence, Rothstein, Robert, Salinas, Odalys, Santana, Andres, Serna, Anyssa, Shapiro, Faye, Shenoy, Anjana Bhami, Simoncini, Lindsey, Sinha, Bharati, Verran, Aubrie Soucy, Sousa, Anéya, Yu, Timothy, Li, Qifei, Brownstein, Catherine, Schmitz-Abe, Klaus, Tamase Newsam, Marione

مصطلحات موضوعية: Genetics and genomics

وصف الملف: text/html

العلاقة: http://bmjopen.bmj.com/cgi/content/short/14/2/e080529Test; http://dx.doi.org/10.1136/bmjopen-2023-080529Test

الإتاحة: https://doi.org/10.1136/bmjopen-2023-080529Test
http://bmjopen.bmj.com/cgi/content/short/14/2/e080529Test

المؤلفون: Yang, Erru, Kruger, Eliza, Yin, David, Mace, Kieran, Tierney, Meghan, Liao, Noelle, Cibelli, Emily, Drozd, Dan, Ross, Nathan, Deering, Kathleen L., Herout, Peter, Harshaw, Qing, Shillington, Alicia, Thomas, Nina, Marsden, Deborah, Kritzer, Amy, Vockley, Jerry

المساهمون: Ultragenyx Pharmaceutical Inc

المصدر: Molecular Genetics and Metabolism ; volume 142, issue 1, page 108350 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2024.108350Test
https://api.elsevier.com/content/article/PII:S109671922400235X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S109671922400235X?httpAccept=text/plainTest

المؤلفون: Duncan, Anna R, Polovitskaya, Maya M, Gaitán-Peñas, Héctor, Bertelli, Sara, VanNoy, Grace E, Grant, Patricia E, O’Donnell-Luria, Anne, Valivullah, Zaheer, Lovgren, Alysia Kern, England, Elaina M, Agolini, Emanuele, Madden, Jill A, Schmitz-Abe, Klaus, Kritzer, Amy, Hawley, Pamela, Novelli, Antonio, Alfieri, Paolo, Colafati, Giovanna Stefania, Wieczorek, Dagmar, Platzer, Konrad, Luppe, Johannes, Koch-Hogrebe, Margarete, Jamra, Rami Abou, Neira-Fresneda, Juanita, Lehman, Anna, Boerkoel, Cornelius F, Seath, Kimberly, Clarke, Lorne, Study, CAUSES, van Ierland, Yvette, Argilli, Emanuela, Sherr, Elliott H, Maiorana, Andrea, Diel, Thilo, Hempel, Maja, Bierhals, Tatjana, Estévez, Raúl, Jentsch, Thomas J, Pusch, Michael, Agrawal, Pankaj B

المصدر: American Journal of Human Genetics. 108(8)

مصطلحات موضوعية: Biological Sciences, Medical Physiology, Biomedical and Clinical Sciences, Genetics, Pediatric, Mental Health, Intellectual and Developmental Disabilities (IDD), Neurosciences, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Animals, Child, Child, Preschool, Chloride Channels, Disease Models, Animal, Female, Homozygote, Humans, Infant, Infant, Newborn, Ion Channels, Male, Mice, Mice, Knockout, Mutation, Neurodevelopmental Disorders, Phenotype, CAUSES Study, CLCN, acidification, gain of function, hippocampus, intellectual disability, neurodevelopmental delay, pH sensitivity, voltage gated chloride channel, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2cw9q317Test

المؤلفون: Yang, Erru, Kruger, Eliza, Deering, Kathleen, Yin, David, Mace, Kieran, Liao, Noelle, Tierney, Meghan, Cibelli, Emily, Drozd, Dan, Ross, Nathan, Herout, Peter, Shillington, Alicia, Thomas, Nina, Marsden, Deborah, Kritzer, Amy, Vockley, Jerry

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100051 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2023.100051Test
https://api.elsevier.com/content/article/PII:S2949774423000511?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423000511?httpAccept=text/plainTest

المؤلفون: Grassie, Christina, Siddharth, Aishwarya, Michl, Emma, Sacharow, Stephanie, Kritzer, Amy, Bodamer, Olaf, Peake, Roy, Hall, Patricia, Matern, Dietrich, Huguenin, Suzette, Pasquali, Marzia, Pollard, Laura

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100011 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2023.100011Test
https://api.elsevier.com/content/article/PII:S2949774423000110?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423000110?httpAccept=text/plainTest

المؤلفون: Albokhari, Daniah, Ayoubieh, Houriya, Balwani, Manisha, Barry, Jessica C., Blagowidow, Natalie, Bodurtha, Joann, Bottini, Alexander, Brewer, Takae M., Brodie, Scott, Brown, Emily E., Bush, Lynn Wein, Butterfield, Russell J., Campbell, Kirk, Clemens, Douglas K., Corson, Virginia L., Cytrynbaum, Cheryl, Dedania, Vaidehi, Diaz, George A., Dietz, Harry C., Dinulos, Mary Beth Palko, Eng, Christine M., Eng, Charis, Fan, Audrey L., Francomano, Clair A., Frucht, Steven J., Ganesh, Jaya, Gelb, Bruce D., Goduni, Lediana, Gu, Shen, Gupta, Isha, Hagerman, Randi J., Hall, Judith G., Hoover-Fong, Julie, Hudgins, Louanne, Iverson, Ayuko, Jabs, Ethylin Wang, James, Cynthia A., Jari, Shama, Keppler-Noreuil, Kim M., Kerr, Lynne M., Kimball, Amy, Kline, Antonie D., Kline, Joel N., Kritzer, Amy, Lambert, Michele P., Lew, Cheryl D., Li, Shao-Tzu, MacCarrick, Gretchen, Matalon, Dena R., McDonald-McGinn, Donna M.

المصدر: Genomics in the Clinic ; page xv-xviii ; ISBN 9780128164785

الإتاحة: https://doi.org/10.1016/b978-0-12-816478-5.01002-5Test
https://api.elsevier.com/content/article/PII:B9780128164785010025?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B9780128164785010025?httpAccept=text/plainTest

المؤلفون: Bush, Lynn Wein, Kritzer, Amy, Lew, Cheryl D.

المصدر: Genomics in the Clinic ; page 133-142 ; ISBN 9780128164785

الإتاحة: https://doi.org/10.1016/b978-0-12-816478-5.00010-8Test
https://api.elsevier.com/content/article/PII:B9780128164785000108?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B9780128164785000108?httpAccept=text/plainTest

المؤلفون: Wein Bush, Lynn, Kritzer, Amy, Lew, Cheryl D.

المصدر: Genomics in the Clinic ; page 565-568 ; ISBN 9780128164785

الإتاحة: https://doi.org/10.1016/b978-0-12-816478-5.00111-4Test
https://api.elsevier.com/content/article/PII:B9780128164785001114?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B9780128164785001114?httpAccept=text/plainTest

المؤلفون: Bush, Lynn Wein, Kritzer, Amy, Lew, Cheryl D.

المصدر: Genomics in the Clinic ; page 569-571 ; ISBN 9780128164785

الإتاحة: https://doi.org/10.1016/b978-0-12-816478-5.00112-6Test
https://api.elsevier.com/content/article/PII:B9780128164785001126?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B9780128164785001126?httpAccept=text/plainTest