المؤلفون: Stein, Quinn, Vostrizansky, Anna, Magay, Yelena, Jandeska, Sara, Westemeyer, Maggie, Hendricks, Emily, Pitman, Tessa, Hager, Meg M., Anand, Akash, Curry, Kathryn, Bloom, Michelle, Al Haj Baddar, Nour, Tabriziani, Hossein, Harrington, Melisa, Punj, Sumit

المصدر: Kidney International Reports ; ISSN 2468-0249

مصطلحات موضوعية: Nephrology

الإتاحة: https://doi.org/10.1016/j.ekir.2024.03.030Test
https://api.elsevier.com/content/article/PII:S2468024924016176?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468024924016176?httpAccept=text/plainTest

المؤلفون: Stein, Quinn, Mascarenhas, Ryan, Punj, Sumit, Westemeyer, Maggie, Hendricks, Emily, Pitman, Tessa, Hager, Meg, Baddar, Nour, Connors, Kristen, Bacher, Alexa, Larson, Robin, Zec, Lauren, Stoddard, Jennifer

المصدر: Genetics in Medicine Open ; volume 2, page 101297 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101297Test
https://api.elsevier.com/content/article/PII:S2949774424004436?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424004436?httpAccept=text/plainTest

المؤلفون: Shi, Vivian, Stein, Quinn, Clark, Dinah, Punj, Sumit, Kremsdorf, Robin, Faizan, Mohammed

المصدر: Clinical Case Reports ; volume 11, issue 6 ; ISSN 2050-0904 2050-0904

الإتاحة: https://doi.org/10.1002/ccr3.7502Test

المؤلفون: Stein, Quinn, Herman, Kathleen, Deyo, Jennifer, McDonough, Colleen, Bloom, Michelle S., Mansuri, Asifhusen

المصدر: Pediatric Nephrology ; volume 38, issue 9, page 3189-3192 ; ISSN 0931-041X 1432-198X

مصطلحات موضوعية: Nephrology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1007/s00467-023-05873-6Test

المؤلفون: Stein, Quinn, Westemeyer, Maggie, Darwish, Tarek, Pitman, Tessa, Hager, Megan, Tabriziani, Hossein, Curry, Kathryn, Collett, Kathleen, Raible, Darbey, Hendricks, Emily

المساهمون: Natera

المصدر: Kidney Medicine ; volume 5, issue 7, page 100668 ; ISSN 2590-0595

مصطلحات موضوعية: Nephrology, Internal Medicine

الإتاحة: https://doi.org/10.1016/j.xkme.2023.100668Test
https://api.elsevier.com/content/article/PII:S2590059523000845?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2590059523000845?httpAccept=text/plainTest

المؤلفون: Curry, Kathryn, Hager, Meg, Anand, Akash, Westermeyer, Maggie, Hendricks, Emily, Pitman, Tessa, Collett, Kathleen, Stein, Quinn, Punj, Sumit

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100137 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2023.100137Test
https://api.elsevier.com/content/article/PII:S2949774423001371?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423001371?httpAccept=text/plainTest

المؤلفون: Blok, Lot Snijders, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot RF, Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T, Hoischen, Alexander, Vissers, Lisenka ELM, Koemans, Tom S, Wissink-Lindhout, Willemijn, Eichler, Evan E, Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, van Bon, Bregje WM, Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L, Van Dijck, Anke, Innes, A Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J, Henderson, Alex, Lynch, Sally A, Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Study, the DDD, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, van Gassen, Koen LI, Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L, Pediaditakis, Igor, Haas, Stefan A, Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G, Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C, Stein, Quinn, Strauss, Kevin A, Brigatti, Karlla W, Keating, Katherine, Burton, Barbara K, Kim, Katherine H, Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D, Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M, van Roozendaal, Kees, Brunner, Han, Chung, Wendy K, Kooy, R Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G, Katsanis, Nicholas, Kleefstra, Tjitske

المصدر: American Journal of Human Genetics. 97(2)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Intellectual and Developmental Disabilities (IDD), Human Genome, Clinical Research, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Amino Acid Substitution, Animals, Base Sequence, DEAD-box RNA Helicases, Embryo, Nonmammalian, Exome, Female, Gene Dosage, Humans, Intellectual Disability, Male, Molecular Sequence Data, Mutation, Missense, Phenotype, Sequence Analysis, DNA, Sex Characteristics, Wnt Signaling Pathway, Zebrafish, DDD Study, 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/7z24v4hnTest

المؤلفون: Zarate, Yuri A., Smith‐Hicks, Constance L., Greene, Carol, Abbott, Mary‐Alice, Siu, Victoria M., Calhoun, Amy R. U. L., Pandya, Arti, Li, Chumei, Sellars, Elizabeth A., Kaylor, Julie, Bosanko, Katherine, Kalsner, Louisa, Basinger, Alice, Slavotinek, Anne M., Perry, Hazel, Saenz, Margarita, Szybowska, Marta, Wilson, Louise C., Kumar, Ajith, Brain, Caroline, Balasubramanian, Meena, Dubbs, Holly, Ortiz‐Gonzalez, Xilma R., Zackai, Elaine, Stein, Quinn, Powell, Cynthia M., Schrier Vergano, Samantha, Britt, Allison, Sun, Angela, Smith, Wendy, Bebin, E. Martina, Picker, Jonathan, Kirby, Amelia, Pinz, Hailey, Bombei, Hannah, Mahida, Sonal, Cohen, Julie S., Fatemi, Ali, Vernon, Hilary J., McClellan, Rebecca, Fleming, Leah R., Knyszek, Brittney, Steinraths, Michelle, Velasco Gonzalez, Cruz, Beck, Anita E., Golden‐Grant, Katie L., Egense, Alena, Parikh, Aditi, Raimondi, Chantalle, Angle, Brad

المصدر: American Journal of Medical Genetics Part A ; volume 176, issue 4 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.38671Test

المؤلفون: Hamdan, Fadi F., Myers, Candace T., Cossette, Patrick, Lemay, Philippe, Spiegelman, Dan, Laporte, Alexandre Dionne, Nassif, Christina, Diallo, Ousmane, Monlong, Jean, Cadieux-Dion, Maxime, Dobrzeniecka, Sylvia, Meloche, Caroline, Retterer, Kyle, Cho, Megan T., Rosenfeld, Jill A., Bi, Weimin, Massicotte, Christine, Miguet, Marguerite, Brunga, Ledia, Regan, Brigid M., Mo, Kelly, Tam, Cory, Schneider, Amy, Hollingsworth, Georgie, FitzPatrick, David R., Donaldson, Alan, Canham, Natalie, Blair, Edward, Kerr, Bronwyn, Fry, Andrew E., Thomas, Rhys H., Shelagh, Joss, Hurst, Jane A., Brittain, Helen, Blyth, Moira, Lebel, Robert Roger, Gerkes, Erica H., Davis-Keppen, Laura, Stein, Quinn, Chung, Wendy K., Dorison, Sara J., Benke, Paul J., Fassi, Emily, Corsten-Janssen, Nicole, Kamsteeg, Erik-Jan, Mau-Them, Frederic T., Bruel, Ange-Line, Verloes, Alain, Ounap, Katrin, Wojcik, Monica H.

المصدر: Hamdan , F F , Myers , C T , Cossette , P , Lemay , P , Spiegelman , D , Laporte , A D , Nassif , C , Diallo , O , Monlong , J , Cadieux-Dion , M , Dobrzeniecka , S , Meloche , C , Retterer , K , Cho , M T , Rosenfeld , J A , Bi , W , Massicotte , C , Miguet , M , Brunga , L , Regan , B M , Mo , K , Tam , C , Schneider , A , Hollingsworth ....

مصطلحات موضوعية: SEVERE INTELLECTUAL DISABILITY, NOGO-B RECEPTOR, CIS-PRENYLTRANSFERASE, DIPHOSPHATE SYNTHASE, MEDICAL GENETICS, STRUCTURAL BASIS, DISORDERS, DISEASE, GLYCOSYLATION, CHILDREN

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/ded897d0-dd8b-4041-a650-8da58c9aa99dTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.09.008Test
https://hdl.handle.net/11370/ded897d0-dd8b-4041-a650-8da58c9aa99dTest
https://research.rug.nl/en/publications/ded897d0-dd8b-4041-a650-8da58c9aa99dTest
https://pure.rug.nl/ws/files/50187642/1_s2.0_S0002929717303774_main.pdfTest

المؤلفون: Leonhard, Jennifer R., Munson, Paul J., Flanagan, Jason D., De Berg, Kristen L., Thompson, Paul A., Dean, Lori W., Stein, Quinn P.

المصدر: Journal of Genetic Counseling ; volume 26, issue 4, page 852-858 ; ISSN 1059-7700 1573-3599

الإتاحة: https://doi.org/10.1007/s10897-016-0062-7Test