المؤلفون: Hannah-Shmouni, Fady, Trivellin, Giampaolo, Beckers, Pablo, Karaviti, Lefkothea, Lodish, Maya, Tatsi, Christina, Adesina, Adekunle, Adamidou, Fotini, Mintziori, Gesthimani, Josefson, Jami, Quezado, Martha, Stratakis, Constantine

المصدر: Journal of Clinical Medicine. 11(8)

مصطلحات موضوعية: GH excess, GPR101, X-LAG, acromegaly, gigantism, neurofibromatosis type 1, optic pathway glioma, overgrowth, pituitary tumor

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0j25k5h6
https://escholarship.org/content/qt0j25k5h6/qt0j25k5h6.pdf

المؤلفون: Burrage, Lindsay C, Reynolds, John J, Baratang, Nissan Vida, Phillips, Jennifer B, Wegner, Jeremy, McFarquhar, Ashley, Higgs, Martin R, Christiansen, Audrey E, Lanza, Denise G, Seavitt, John R, Jain, Mahim, Li, Xiaohui, Parry, David A, Raman, Vandana, Chitayat, David, Chinn, Ivan K, Bertuch, Alison A, Karaviti, Lefkothea, Schlesinger, Alan E, Earl, Dawn, Bamshad, Michael, Savarirayan, Ravi, Doddapaneni, Harsha, Muzny, Donna, Jhangiani, Shalini N, Eng, Christine M, Gibbs, Richard A, Bi, Weimin, Emrick, Lisa, Rosenfeld, Jill A, Postlethwait, John, Westerfield, Monte, Dickinson, Mary E, Beaudet, Arthur L, Ranza, Emmanuelle, Huber, Celine, Cormier-Daire, Valérie, Shen, Wei, Mao, Rong, Heaney, Jason D, Orange, Jordan S, Genomics, University of Washington Center for Mendelian, Network, Undiagnosed Diseases, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bellen, Hugo J, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Butte, Manish J, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cogan, Joy D, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D’Souza, Precilla, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell’Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina M, Donnell-Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Enns, Gregory M, Eskin, Ascia, Esteves, Cecilia

المصدر: American Journal of Human Genetics. 104(3)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Clinical Research, Congenital Structural Anomalies, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Alleles, Animals, Cells, Cultured, Child, Child, Preschool, Chromosomal Instability, DNA Damage, Female, Fibroblasts, Genetic Association Studies, Genetic Variation, Humans, Mice, Mice, Knockout, Musculoskeletal Abnormalities, NF-kappa B, Osteochondrodysplasias, Exome Sequencing, Young Adult, Zebrafish, University of Washington Center for Mendelian Genomics, Undiagnosed Diseases Network, DNA repair, DNA replication, SPONASTRIME dysplasia, TONSL, exome sequencing, skeletal dysplasia, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/28k4m2m4

المؤلفون: Bartz, Sara, Karaviti, Lefkothea, Brandt, Mary, Lopez, Monica, Masand, Prakash, Devaraj, Sridevi, Hicks, John, Anderson, Lauren, Lodish, Maya, Keil, Meg, Stratakis, Constantine

المصدر: International Journal of Pediatric Endocrinology. 2015(1)

مصطلحات موضوعية: Cushing syndrome, Obesity, PPNAD, Primary pigmented nodular adrenocortical disease

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/583619ff
https://escholarship.org/content/qt583619ff/qt583619ff.pdf

المؤلفون: Agarwal, Swashti, Tu, Duong D., Austin, Paul F., Scheurer, Michael E., Karaviti, Lefkothea P

المصدر: Global Pediatric Health ; volume 7 ; ISSN 2333-794X 2333-794X

الاتاحة: https://doi.org/10.1177/2333794x20958980
https://journals.sagepub.com/doi/pdf/10.1177/2333794X20958980
https://journals.sagepub.com/doi/full-xml/10.1177/2333794X20958980

المؤلفون: Odom, John, Bacino, Carlos A., Karaviti, Lefkothea P., Bi, Weimin, Hoyos-Martinez, Alfonso

المصدر: Journal of Pediatric Endocrinology & Metabolism; Jan2024, Vol. 37 Issue 1, p84-89, 6p

المؤلفون: Odom, John, Bacino, Carlos A., Karaviti, Lefkothea P., Bi, Weimin, Hoyos-Martinez, Alfonso

المصدر: Journal of Pediatric Endocrinology and Metabolism ; volume 37, issue 1, page 84-89 ; ISSN 0334-018X 2191-0251

الاتاحة: http://dx.doi.org/10.1515/jpem-2023-0249
https://www.degruyter.com/document/doi/10.1515/jpem-2023-0249/xml
https://www.degruyter.com/document/doi/10.1515/jpem-2023-0249/pdf

المؤلفون: McCann-Crosby, Bonnie, Liang, Mark C., Geffner, Mitchell E., Koppin, Christina M., Fraga, Nicole R., Sutton, V. Reid, Karaviti, Lefkothea P., Bhullar, Gagandeep, Kim, Mimi S.

المصدر: International Journal of Neonatal Screening (IJNS); Sep2023, Vol. 9 Issue 3, p50, 10p

المؤلفون: Tosur, Mustafa, Collins, Michael T., Ponder, Stephen W., Stratakis, Constantine A., Karaviti, Lefkothea P., Jeha, George S.

المصدر: Global Pediatric Health ; volume 4 ; ISSN 2333-794X 2333-794X

الاتاحة: https://doi.org/10.1177/2333794x17742748
https://journals.sagepub.com/doi/pdf/10.1177/2333794X17742748
https://journals.sagepub.com/doi/full-xml/10.1177/2333794X17742748

المؤلفون: Chen, Min-Jye, Macias, Charles G, Gunn, Sheila K, Dietrich, Jennifer E, Roth, David R, Schlomer, Bruce J, Karaviti, Lefkothea P

المصدر: International Journal of Pediatric Endocrinology ; volume 2014, issue 1 ; ISSN 1687-9856

الاتاحة: http://dx.doi.org/10.1186/1687-9856-2014-20
http://link.springer.com/content/pdf/10.1186/1687-9856-2014-20.pdf

المؤلفون: Larsen, Cæcilie C, Karaviti, Lefkothea P, Seghers, Victor, Weiss, Roy E, Refetoff, Samuel, Dumitrescu, Alexandra M

المصدر: International Journal of Pediatric Endocrinology ; volume 2014, issue 1 ; ISSN 1687-9856

الاتاحة: http://dx.doi.org/10.1186/1687-9856-2014-23
https://link.springer.com/content/pdf/10.1186/1687-9856-2014-23.pdf

المؤلفون: Suresh, Deepa, Crawford, Jessica, Axelrad, Marni E, Gunn, Sheila K, McCullough, Laurence, Smith, O’Brian, Sutton, Vernon R, Roth, David, Karaviti, Lefkothea P, Dietrich, Jennifer E

المصدر: International Journal of Pediatric Endocrinology ; volume 2013, issue 1 ; ISSN 1687-9856

الاتاحة: http://dx.doi.org/10.1186/1687-9856-2013-7
http://link.springer.com/content/pdf/10.1186/1687-9856-2013-7.pdf
http://link.springer.com/article/10.1186/1687-9856-2013-7/fulltext.html
https://link.springer.com/content/pdf/10.1186/1687-9856-2013-7.pdf

المؤلفون: Mendiratta, Meenal S, Yang, Yaping, Balazs, Andrea E, Willis, Alecia S, Eng, Christine M, Karaviti, Lefkothea P, Potocki, Lorraine

المصدر: International Journal of Pediatric Endocrinology ; volume 2011, issue 1 ; ISSN 1687-9856

الاتاحة: http://dx.doi.org/10.1186/1687-9856-2011-5
http://link.springer.com/content/pdf/10.1186/1687-9856-2011-5.pdf
http://link.springer.com/article/10.1186/1687-9856-2011-5/fulltext.html

المؤلفون: Gutenberg, Angelika, Bell, Jennifer J., Lupi, Isabella, Tzou, Shey-Cherng, Landek-Salgado, Melissa A., Kimura, Hiroaki, Su, Jack, Karaviti, Lefkothea P., Salvatori, Roberto, Caturegli, Patrizio

المصدر: Pituitary ; volume 14, issue 4, page 388-394 ; ISSN 1386-341X 1573-7403

الاتاحة: http://dx.doi.org/10.1007/s11102-009-0187-x
https://link.springer.com/content/pdf/10.1007/s11102-009-0187-x.pdf
https://link.springer.com/article/10.1007/s11102-009-0187-x/fulltext.html
http://www.springerlink.com/index/pdf/10.1007/s11102-009-0187-x

المؤلفون: Balazs, Andrea, Jeha, George, Gunn, Sheila K., Karaviti, Lefkothea P.

المصدر: Clinical Pediatrics ; volume 47, issue 3, page 293-295 ; ISSN 0009-9228 1938-2707

الاتاحة: https://doi.org/10.1177/0009922807308174
https://journals.sagepub.com/doi/pdf/10.1177/0009922807308174

المؤلفون: Agarwal, Swashti, Austin, Paul, Wood, Alexis C, Karaviti, Lefkothea P

المصدر: J Endocr Soc

مصطلحات موضوعية: Pediatric Endocrinology, demo, envir

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208018/

الاتاحة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208018/

المؤلفون: Moryan-Blanchard, Kristen, Karaviti, Lefkothea P, Axelrad, Marni

المصدر: J Endocr Soc

مصطلحات موضوعية: Pediatric Endocrinology, psy, socio

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207851/

الاتاحة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207851/

المؤلفون: Hilliard, Marisa E., Cao, Viena T., Eshtehardi, Sahar S., Minard, Charles G., Saber, Rana, Thompson, Debbe, Karaviti, Lefkothea P., Anderson, Barbara J.

المصدر: Diabetes Technol Ther

مصطلحات موضوعية: Original Articles, socio

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7698853/

الاتاحة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7698853/

المؤلفون: D’Oro, Anthony, Rosoklija, Ilina, Jacobson, Deborah L., Finlayson, Courtney, Chen, Diane, Tu, Duong D., Austin, Paul F., Karaviti, Lefkothea P., Gunn, Sheila K., Nahata, Leena, Kapa, Hillary M., Kokorowski, Paul J., Kim, Mimi S., Messina, Alyssa C., Kolon, Thomas F., Yerkes, Elizabeth B., Cheng, Earl Y., Johnson, Emilie K.

المصدر: Journal of Urology ; volume 204, issue 4, page 835-842 ; ISSN 0022-5347 1527-3792

الاتاحة: http://dx.doi.org/10.1097/ju.0000000000001076
http://www.auajournals.org/doi/pdf/10.1097/JU.0000000000001076

المؤلفون: Wesson, David E., Johnson, Brittany L., Barclay, Charlene, Vogel, Adam M., Chelius, Daniel C., Dimachkieh, Amy L., Athanassaki, Ioanna D., Karaviti, Lefkothea P., Sher, Andrew C., Hernandez, Jose A., Mahmood, Nadia F., Mahajan, Priya, Quintanilla, Norma, Lopez, Monica E.

المصدر: Journal of Pediatric Surgery; Apr2022, Vol. 57 Issue 4, p622-629, 8p

المؤلفون: Kohler, Jennefer N., Legro, Nicole R., Baldridge, Dustin, Shin, Jimann, Bowman, Angela, Ugur, Berrak, Jackstadt, Madelyn M., Shriver, Leah P., Patti, Gary J., Zhang, Bo, Feng, Wenjia, McAdow, Anthony R., Goddard, Pagé, Ungar, Rachel A., Jensen, Tanner, Smith, Kevin S., Fresard, Laure, Alvarez, Raquel, Bonner, Devon, Reuter, Chloe M., McCormack, Colleen, Kravets, Elijah, Marwaha, Shruti, Holt, James M., Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Sessions Cole, F., Colley, Heather A., Cope, Heidi, Corner, Brian, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dickson, Patricia, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Ezell, Kimberly, Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Lawrence Merritt, J., Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Neumann, Serena, Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Carl Pallais, J., Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Ron Scott, C., Seto, Elaine, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Worthey, Elizabeth A., Ashley, Euan A., Montgomery, Stephen B., Fisher, Paul G., Postlethwait, John, De Camilli, Pietro, Solnica-Krezel, Lila, Bernstein, Jonathan A., Wheeler, Matthew T.

المصدر: Genetics in Medicine; September 2024, Vol. 26 Issue: 9