المؤلفون: Wilderman, Andrea, D'haene, Eva, Baetens, Machteld, Yankee, Tara N., Winchester, Emma Wentworth, Glidden, Nicole, Roets, Ellen, Van Dorpe, Jo, Janssens, Sandra, Miller, Danny E., Galey, Miranda, Brown, Kari M., Stottmann, Rolf W., Vergult, Sarah, Weaver, K. Nicole, Brugmann, Samantha A., Cox, Timothy C., Cotney, Justin

المصدر: NATURE COMMUNICATIONS ; ISSN: 2041-1723

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/01HKWA6MYTK8FZATD74A2HC900; https://biblio.ugent.be/publication/01HKWA6MYTK8FZATD74A2HC900/file/01HKWA8GSQY5QAM6KD0ZN394HA

الاتاحة: https://biblio.ugent.be/publication/01HKWA6MYTK8FZATD74A2HC900
http://hdl.handle.net/1854/LU-01HKWA6MYTK8FZATD74A2HC900
https://doi.org/10.1038/s41467-023-44506-2
https://biblio.ugent.be/publication/01HKWA6MYTK8FZATD74A2HC900/file/01HKWA8GSQY5QAM6KD0ZN394HA

المؤلفون: Showpnil, Iftekhar A., E. Hernandez Gonzalez, Maria, Ramadesikan, Swetha, Marhabaie, Mohammad, Daley, Allison, Dublin-Ryan, Leeran, Pastore, Matthew T., Gurusamy, Umamaheswaran, Hunter, Jesse M., Stone, Brandon S., Bartholomew, Dennis W., Manickam, Kandamurugu, Miller, Anthony R., Wilson, Richard K., Stottmann, Rolf W., Koboldt, Daniel C.

المصدر: NPJ Genomic Medicine; 12/18/2024, Vol. 9 Issue 1, p1-12, 12p

المؤلفون: Smallwood, Kelly, Watt, Kristin E.N., Ide, Satoru, Baltrunaite, Kristina, Brunswick, Chad, Inskeep, Katherine, Capannari, Corrine, Adam, Margaret P., Begtrup, Amber, Bertola, Debora R., Demmer, Laurie, Demo, Erin, Devinsky, Orrin, Gallagher, Emily R., Guillen Sacoto, Maria J., Jech, Robert, Keren, Boris, Kussmann, Jennifer, Ladda, Roger, Lansdon, Lisa A., Lunke, Sebastian, Mardy, Anne, McWalters, Kirsty, Person, Richard, Raiti, Laura, Saitoh, Noriko, Saunders, Carol J., Schnur, Rhonda, Skorvanek, Matej, Sell, Susan L., Slavotinek, Anne, Sullivan, Bonnie R., Stark, Zornitza, Symonds, Joseph D., Wenger, Tara, Weber, Sacha, Whalen, Sandra, White, Susan M., Winkelmann, Juliane, Zech, Michael, Zeidler, Shimriet, Maeshima, Kazuhiro, Stottmann, Rolf W., Trainor, Paul A., Weaver, K. Nicole

المصدر: Smallwood , K , Watt , K E N , Ide , S , Baltrunaite , K , Brunswick , C , Inskeep , K , Capannari , C , Adam , M P , Begtrup , A , Bertola , D R , Demmer , L , Demo , E , Devinsky , O , Gallagher , E R , Guillen Sacoto , M J , Jech , R , Keren , B , Kussmann , J , Ladda , R , Lansdon , L A , Lunke , S , Mardy , A , McWalters , K ....

الاتاحة: https://pure.eur.nl/en/publications/04798803-ca47-4dc5-ba09-751d4505ba47
https://doi.org/10.1016/j.ajhg.2023.03.014
http://www.scopus.com/inward/record.url?scp=85153621066&partnerID=8YFLogxK

المؤلفون: de Sainte Agathe, Jean-Madeleine, Pode-Shakked, Ben, Naudion, Sophie, Michaud, Vincent, Arveiler, Benoit, Fergelot, Patricia, Delmas, Jean, Keren, Boris, Poirsier, Céline, Alkuraya, Fowzan, S, Tabarki, Brahim, Bend, Eric, Davis, Kellie, Bebin, Martina, Thompson, Michelle, L, Bryant, Emily, M, Wagner, Matias, Hannibal, Iris, Lenberg, Jerica, Krenn, Martin, Wigby, Kristen, M, Friedman, Jennifer, R, Iascone, Maria, Cereda, Anna, Miao, Térence, Leguern, Eric, Argilli, Emanuela, Sherr, Elliott, Caluseriu, Oana, Tidwell, Timothy, Bayrak-Toydemir, Pinar, Hagedorn, Caroline, Brugger, Melanie, Vill, Katharina, Morneau-Jacob, Francois-Dominique, Chung, Wendy, Weaver, Kathryn, N, Owens, Joshua, W, Husami, Ammar, Chaudhari, Bimal, P, Stone, Brandon, S, Burns, Katie, Li, Rachel, de Lange, Iris, M, Biehler, Margaux, Ginglinger, Emmanuelle, Gérard, Bénédicte, Stottmann, Rolf, W, Trimouille, Aurélien

المساهمون: CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: ISSN: 0022-2593.

مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: hal-04191246; https://hal.sorbonne-universite.fr/hal-04191246; https://hal.sorbonne-universite.fr/hal-04191246/document; https://hal.sorbonne-universite.fr/hal-04191246/file/jmg-2022-108803.full.pdf

الاتاحة: https://hal.sorbonne-universite.fr/hal-04191246
https://hal.sorbonne-universite.fr/hal-04191246/document
https://hal.sorbonne-universite.fr/hal-04191246/file/jmg-2022-108803.full.pdf
https://doi.org/10.1136/jmg-2022-108803

المؤلفون: Li, Zhuo, Peng, Yanyan, Hufnagel, Robert B, Hu, Yueh-Chiang, Zhao, Chuntao, Queme, Luis F, Khuchua, Zaza, Driver, Ashley M, Dong, Fei, Lu, Q Richard, Lindquist, Diana M, Jankowski, Michael P, Stottmann, Rolf W, Kao, Winston WY, Huang, Taosheng

المصدر: Human molecular genetics. 26(19)

مصطلحات موضوعية: Retinal Ganglion Cells, Mitochondria, Animals, Mice, Knockout, Humans, Mice, Ataxia, Phosphate Transport Proteins, Mitochondrial Proteins, Mutation, Female, Male, Mitochondrial Dynamics, Neurodegenerative, Pain Research, Eye Disease and Disorders of Vision, Chronic Pain, Neurosciences, Peripheral Neuropathy, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Neurological, Eye, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1d29m7v9

المؤلفون: Inskeep, Katherine A., Crase, Bryan, Dayarathna, Thamara, Stottmann, Rolf W.

المصدر: Development (09501991); Nov2024, Vol. 151 Issue 22, p1-17, 17p

مصطلحات موضوعية: INDUCED pluripotent stem cells, PURKINJE cells, CELL communication, CERAMIDES, PROGENITOR cells

المؤلفون: Khalaf-Nazzal, Reham, Fasham, James, Inskeep, Katherine A., Blizzard, Lauren E., Leslie, Joseph S., Wakeling, Matthew N., Ubeyratna, Nishanka, Mitani, Tadahiro, Griffith, Jennifer L., Baker, Wisam, Al-Hijawi, Fida’, Keough, Karen C., Gezdirici, Alper, Pena, Loren, Spaeth, Christine G., Turnpenny, Peter D., Walsh, Joseph R., Ray, Randall, Neilson, Amber, Kouranova, Evguenia, Cui, Xiaoxia, Curiel, David T., Pehlivan, Davut, Akdemir, Zeynep Coban, Posey, Jennifer E., Lupski, James R., Dobyns, William B., Stottmann, Rolf W., Crosby, Andrew H., Baple, Emma L.

المصدر: The American Journal of Human Genetics ; volume 109, issue 11, page 2068-2079 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2022.09.012
https://api.elsevier.com/content/article/PII:S0002929722004153?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929722004153?httpAccept=text/plain

المؤلفون: Brugmann, Samantha A., Clouthier, David E., Fantauzzo, Katherine A., Harris, Matthew P., Jeong, Juhee, Saint‐Jeannet, Jean‐Pierre, Stottmann, Rolf W., Merrill, Amy E.

المصدر: American Journal of Medical Genetics. Part A; Aug2024, Vol. 194 Issue 8, p1-10, 10p

المؤلفون: Marom, Ronit, Burrage, Lindsay C., Venditti, Rossella, Clément, Aurélie, Blanco-Sánchez, Bernardo, Jain, Mahim, Scott, Daryl A., Rosenfeld, Jill A., Sutton, V. Reid, Shinawi, Marwan, Mirzaa, Ghayda, DeVile, Catherine, Roberts, Rowenna, Calder, Alistair D., Allgrove, Jeremy, Grafe, Ingo, Lanza, Denise G., Li, Xiaohui, Joeng, Kyu Sang, Lee, Yi-Chien, Song, I-Wen, Sliepka, Joseph M., Batkovskyte, Dominyka, Washington, Megan, Dawson, Brian C., Jin, Zixue, Jiang, Ming-Ming, Chen, Shan, Chen, Yuqing, Tran, Alyssa A., Emrick, Lisa T., Murdock, David R., Hanchard, Neil A., Zapata, Gladys E., Mehta, Nitesh R., Weis, Mary Ann, Scott, Abbey A., Tremp, Brenna A., Phillips, Jennifer B., Wegner, Jeremy, Taylor-Miller, Tashunka, Gibbs, Richard A., Muzny, Donna M., Jhangiani, Shalini N., Hicks, John, Stottmann, Rolf W., Dickinson, Mary E., Seavitt, John R., Heaney, Jason D., Eyre, David R.

المصدر: The American Journal of Human Genetics ; volume 108, issue 9, page 1710-1724 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2021.08.002
https://api.elsevier.com/content/article/PII:S0002929721003013?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929721003013?httpAccept=text/plain

المؤلفون: Abdelhamed, Zakia, Lukacs, Marshall, Cindric, Sandra, Omran, Heymut, Stottmann, Rolf W.

مصطلحات موضوعية: RESEARCH ARTICLE

وصف الملف: text/html

Relation: http://dmm.biologists.org/cgi/content/short/13/10/dmm045344; http://dx.doi.org/10.1242/dmm.045344

الاتاحة: http://dmm.biologists.org/cgi/content/short/13/10/dmm045344
https://doi.org/10.1242/dmm.045344

المؤلفون: DiStasio, Andrew, Paulding, David, Chaturvedi, Praneet, Stottmann, Rolf W.

المساهمون: National Institutes of Health

المصدر: Developmental Biology ; volume 458, issue 2, page 189-199 ; ISSN 0012-1606

الاتاحة: http://dx.doi.org/10.1016/j.ydbio.2019.10.039
https://api.elsevier.com/content/article/PII:S0012160619303677?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0012160619303677?httpAccept=text/plain

المؤلفون: Lukacs, Marshall, Gilley, Jonathan, Zhu, Yi, Orsomando, Giuseppee, Angeletti, Carlo, Liu, Jiaqi, Yang, Xiuna, Park, Joun, Hopkin, Robert J, Coleman, Michael, Zhai, R Grace, Stottmann, Rolf W

مصطلحات موضوعية: Animals, Arthrogryposis, Fetus, Humans, Mice, Mutation, Neurogenesis, Nicotinamide-Nucleotide Adenylyltransferase, Stillbirth, Wallerian Degeneration

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/293425

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/293425
https://doi.org/10.17863/CAM.40577

المؤلفون: Lukacs, Marshall, Roberts, Tia, Chatuverdi, Praneet, Stottmann, Rolf W

المساهمون: National Institute of Neurological Disorders and Stroke, American Cleft Palate-Craniofacial Association

المصدر: eLife ; volume 8 ; ISSN 2050-084X

الاتاحة: http://dx.doi.org/10.7554/elife.45248
https://cdn.elifesciences.org/articles/45248/elife-45248-v2.pdf
https://cdn.elifesciences.org/articles/45248/elife-45248-v2.xml
https://elifesciences.org/articles/45248

المؤلفون: Bittermann, Elizabeth, Abdelhamed, Zakia, Liegel, Ryan P., Menke, Chelsea, Timms, Andrew, Beier, David R., Stottmann, Rolf W.

المساهمون: Moore, Jeffrey, National Institute of Neurological Disorders and Stroke

المصدر: PLOS Genetics ; volume 15, issue 8, page e1008243 ; ISSN 1553-7404

الاتاحة: http://dx.doi.org/10.1371/journal.pgen.1008243
http://dx.plos.org/10.1371/journal.pgen.1008243

المؤلفون: Snedeker, John, Gibbons, William J., Paulding, David F., Abdelhamed, Zakia, Prows, Daniel R., Stottmann, Rolf W.

المساهمون: Cox, Gregory A., National Institute of General Medical Sciences

المصدر: PLOS Genetics ; volume 15, issue 11, page e1008467 ; ISSN 1553-7404

الاتاحة: http://dx.doi.org/10.1371/journal.pgen.1008467
https://dx.plos.org/10.1371/journal.pgen.1008467

المؤلفون: Magini, Pamela, Smits, Daphne J., Vandervore, Laura, Schot, Rachel, Columbaro, Marta, Kasteleijn, Esmee, van der Ent, Mees, Palombo, Flavia, Lequin, Maarten H., Dremmen, Marjolein, de Wit, Marie Claire Y., Severino, Mariasavina, Divizia, Maria Teresa, Striano, Pasquale, Ordonez-Herrera, Natalia, Alhashem, Amal, Al Fares, Ahmed, Al Ghamdi, Malak, Rolfs, Arndt, Bauer, Peter, Demmers, Jeroen, Verheijen, Frans W., Wilke, Martina, van Slegtenhorst, Marjon, van der Spek, Peter J., Seri, Marco, Jansen, Anna C., Stottmann, Rolf W., Hufnagel, Robert B., Hopkin, Robert J., Aljeaid, Deema, Wiszniewski, Wojciech, Gawlinski, Pawel, Laure-Kamionowska, Milena, Alkuraya, Fowzan S., Akleh, Hanah, Stanley, Valentina, Musaev, Damir, Gleeson, Joseph G., Zaki, Maha S., Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Davidov, Bella, Basel-Salmon, Lina, Bazak, Lily, Shahar, Noa Ruhrman, Bertoli-Avella, Aida, Mirzaa, Ghayda M., Dobyns, William B., Pippucci, Tommaso

المساهمون: ZonMW Top, National Institute of Neurological Disorders and Stroke, Jordan’s Guardian Angels, Broad Institute, NIH, National Science Centre, Poland, FWO

المصدر: The American Journal of Human Genetics ; volume 105, issue 4, page 689-705 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2019.08.006
https://api.elsevier.com/content/article/PII:S000292971930309X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S000292971930309X?httpAccept=text/plain

المؤلفون: Stottmann, Rolf W., Harris, Matthew P., Saint‐Jeannet, Jean‐Pierre, Merrill, Amy E., Clouthier, David E.

المساهمون: American Association for Dental, Oral, and Craniofacial Research, American Association for Anatomy, Illumina

المصدر: American Journal of Medical Genetics Part A ; volume 191, issue 7, page 1994-2002 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.63206
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63206

المؤلفون: Strong, Alanna, Rao, Soumya, von Hardenberg, Sandra, Li, Dong, Cox, Liza L., Lee, Paul C., Zhang, Li Q., Awotoye, Waheed, Diamond, Tamir, Gold, Jessica, Gooch, Catherine, Gowans, Lord Jephthah Joojo, Hakonarson, Hakon, Hing, Anne, Loomes, Kathleen, Martin, Nicole, Selvanayagam, Thanuja, Marazita, Mary L., Mononen, Tarja, Piccoli, David, Pfundt, Rolph, Raskin, Salmo, Scherer, Stephen W., Sobriera, Nara, Vaccaro, Courtney, Wang, Xiang, Watson, Deborah, Weksberg, Rosanna, Bhoj, Elizabeth, Murray, Jeffrey C., Lidral, Andrew C., Butali, Azeez, Buckley, Michael F., Roscioli, Tony, Koolen, David A., Seaver, Laurie H., Prows, Cynthia A., Stottmann, Rolf W., Cox, Timothy C.

المساهمون: National Institutes of Health, March of Dimes Foundation, Autism Speaks, Cleft Palate Foundation, Hospital for Sick Children, University of Iowa

المصدر: American Journal of Medical Genetics Part A ; volume 191, issue 5, page 1227-1239 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.63130
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63130
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.63130

المؤلفون: Schock, Elizabeth N., Struve, Jaime N., Chang, Ching-Fang, Williams, Trevor J., Snedeker, John, Attia, Aria C., Stottmann, Rolf W., Brugmann, Samantha A.

المساهمون: Stieger, Knut, National Institute of Dental and Craniofacial Research, Foundation for the National Institutes of Health, National Institute of General Medical Sciences, March of Dimes Foundation

المصدر: PLOS ONE ; volume 12, issue 3, page e0174206 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0174206
http://dx.plos.org/10.1371/journal.pone.0174206

المؤلفون: Snedeker, John, Schock, Elizabeth N., Struve, Jamie N., Chang, Ching-Fang, Cionni, Megan, Tran, Pamela V., Brugmann, Samantha A., Stottmann, Rolf W.

المساهمون: Stieger, Knut, March of Dimes Foundation, National Institute of Dental and Craniofacial Research, National Institute of Neurological Disorders and Stroke, National Institute of General Medical Sciences

المصدر: PLOS ONE ; volume 12, issue 3, page e0173258 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0173258
http://dx.plos.org/10.1371/journal.pone.0173258