المؤلفون: Lin, Sheng-Jia, Vona, Barbara, Lau, Tracy, Huang, Kevin, Zaki, Maha S, Aldeen, Huda Shujaa, Karimiani, Ehsan Ghayoor, Rocca, Clarissa, Noureldeen, Mahmoud M, Saad, Ahmed K, Petree, Cassidy, Bartolomaeus, Tobias, Abou Jamra, Rami, Zifarelli, Giovanni, Gotkhindikar, Aditi, Wentzensen, Ingrid M, Liao, Mingjuan, Cork, Emalyn Elise, Varshney, Pratishtha, Hashemi, Narges, Mohammadi, Mohammad Hasan, Rad, Aboulfazl, Neira, Juanita, Toosi, Mehran Beiraghi, Knopp, Cordula, Kurth, Ingo, Challman, Thomas D, Smith, Rebecca, Abdalla, Asmahan, Haaf, Thomas, Suri, Mohnish, Joshi, Manali, Chung, Wendy K, Moreno-De-Luca, Andres, Houlden, Henry, Maroofian, Reza, Varshney, Gaurav K

المصدر: Genome Medicine , 15 , Article 102. (2023)

مصطلحات موضوعية: 2-oxo acid dehydrogenase, Disease model, Genetic compensation, Mitochondria, Neurodevelopmental disorders, OGDHL, Variant testing, Zebrafish, Animals, Humans, Proteins, Gene Frequency, Ketoglutarate Dehydrogenase Complex, Phenotype

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10183213/1/s13073-023-01258-4.pdf; https://discovery.ucl.ac.uk/id/eprint/10183213/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10183213/1/s13073-023-01258-4.pdf
https://discovery.ucl.ac.uk/id/eprint/10183213/

المؤلفون: Küry, Sébastien, Ebstein, Frédéric, Mollé, Alice, Besnard, Thomas, Lee, Ming-Kang, Vignard, Virginie, Hery, Tiphaine, Nizon, Mathilde, Mancini, Grazia M.S., Giltay, Jacques, Cogné, Benjamin, Mcwalter, Kirsty, Deb, Wallid, Mor-Shaked, Hagar, Li, Hong, Schnur, Rhonda, Wentzensen, Ingrid, Denommé-Pichon, Anne-Sophie, Fourgeux, Cynthia, Verheijen, Frans, Faurie, Eva, Schot, Rachel, Stevens, Cathy, Smits, Daphne, Barr, Eileen, Sheffer, Ruth, Bernstein, Jonathan, Stimach, Chandler, Kovitch, Eliana, Shashi, Vandana, Schoch, Kelly, Smith, Whitney, van Jaarsveld, Richard, Hurst, Anna C.E., Smith, Kirstin, Baugh, Evan, Bohm, Suzanne, Vyhnálková, Emílie, Ryba, Lukáš, Delnatte, Capucine, Neira, Juanita, Bonneau, Dominique, Toutain, Annick, Rosenfeld, Jill, Audebert-Bellanger, Séverine, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Laumonnier, Frédéric, Berger, Seth, Smith, Ann C.M., Bourdeaut, Franck, Stern, Marc-Henri, Redon, Richard, Krüger, Elke, Margueron, Raphaël, Bézieau, Stéphane, Poschmann, Jeremie, Isidor, Bertrand

المساهمون: Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), ITX-lab unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Universität Greifswald - University of Greifswald, Centre de Recherche en Transplantation et Immunologie - Center for Research in Transplantation and Translational Immunology (U1064 Inserm - CR2TI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Génétique et Biologie du Développement, Institut Curie Paris -Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Erasmus University Medical Center Rotterdam (Erasmus MC), University Medical Center Utrecht (UMCU), GeneDx Gaithersburg, MD, USA, Hadassah Hebrew University Medical Center Jerusalem, Emory University School of Medicine, Emory University Atlanta, GA, Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), University of Tennessee System, Stanford University, Duke University Medical Center, University of Alabama at Birmingham Birmingham (UAB), Columbia University New York, Univerzita Karlova Praha, Česká republika = Charles University Prague, Czech Republic (UK), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Imaging, Brain & Neuropsychiatry (iBraiN), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Baylor College of Medicine (BCM), Baylor University, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Unité neurovasculaire et troubles cognitifs EA 3808 = Neurovascular Unit and Cognitive Disorders EA 3808 (Neuvacod Poitiers ), Université de Poitiers = University of Poitiers (UP), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes (Biosit : Biologie - Santé - Innovation Technologique), Centre de référence Maladies Rares CLAD-Ouest Rennes, Children's National Medical Center, National Human Genome Research Institute (NHGRI), Institut Curie Paris, Unité de génétique et biologie des cancers (U830), Institut Curie Paris -Institut National de la Santé et de la Recherche Médicale (INSERM), Greifswald University Hospital, Research reported in this manuscript was supported by the NIH Common Fund through the Office of Strategic Coordination/Office of the NIH Director under award number U01HG007672 to V.S. Further support was obtained by funding from the German Research Foundation (SFBTR 167 A4, GRK2719 B4) to E.K

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: BAP1, BRCA1, UPS, cancer, chromatin remodeling, deubiquitination, histone 2A, intellectual disability, neurodevelopment, tumor, ubiquitin, ubiquitin-proteasome system, [SDV]Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/35051358; PUBMED: 35051358; PUBMEDCENTRAL: PMC8874225

الاتاحة: https://hal.science/hal-03661178
https://hal.science/hal-03661178v1/document
https://hal.science/hal-03661178v1/file/K%C3%BCry%20et%20al%20-%202022%20-%20Rare%20germline%20heterozygous%20missense%20variants.pdf
https://doi.org/10.1016/j.ajhg.2021.12.011

المؤلفون: Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta M., Kaur, Anupriya, Kaur, Parneet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia M. S., Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Kortuem, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra E., Wilke, Martina, Thompson, Michelle L., Bebin, E. Martina, Bijlsma, Emilia K., Hoffer, Mariette J., Peeters-Scholte, Cacha, Slavotinek, Anne, Weiss, William A., Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, Monda, Janettedi, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Willaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Yachelevich, Naomi, Lala, Sajel, Fernandez-Jaen, Alberto, Pelayo, Janvier Porta, Kloeckner, Chiara

المصدر: CAUSES Study , Genomics England Res Consortium , Chopra , M , McEntagart , M , Clayton-Smith , J , Platzer , K , Shukla , A , Girisha , K M , Kaur , A , Kaur , P , Pfundt , R , Veenstra-Knol , H , Mancini , G M S , Cappuccio , G , Brunetti-Pierri , N , Kortuem , F , Hempel , M , Denecke , J , Lehman , A , Kleefstra , T , Stuurman , K E , Wilke , M , Thompson , M L , Bebin , ....

مصطلحات موضوعية: ANKYRIN REPEAT, HIPPO PATHWAY, MUTATIONS, GENE, MASK

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/cc9de90b-2631-40f5-a693-9f49a94c7ebc
https://research.rug.nl/en/publications/cc9de90b-2631-40f5-a693-9f49a94c7ebc
https://doi.org/10.1016/j.ajhg.2021.04.007
https://pure.rug.nl/ws/files/197491850/1_s2.0_S0002929721001385_main.pdf

المؤلفون: Huang, Yue, Sharma, Rajesh, Feigenbaum, Annette, Lee, Chung, Sahai, Inderneel, Sanchez Russo, Rossana, Neira, Juanita, Brooks, Susan Sklower, Jackson, Kelly E., Wong, Derek, Cederbaum, Stephen, Lacbawan, Felicitas L., Rowland, Charles M., Tanpaiboon, Pranoot, Salazar, Denise

المصدر: Molecular Genetics and Metabolism Reports ; volume 27, page 100735 ; ISSN 2214-4269

الاتاحة: http://dx.doi.org/10.1016/j.ymgmr.2021.100735
https://api.elsevier.com/content/article/PII:S221442692100029X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S221442692100029X?httpAccept=text/plain

المؤلفون: Bryant, Laura, Li, Dong, Cox, Samuel, G, Marchione, Dylan, Joiner, Evan, F, Wilson, Khadija, Janssen, Kevin, Lee, Pearl, March, Michael, E, Nair, Divya, Sherr, Elliott, Fregeau, Brieana, Wierenga, Klaas, J, Wadley, Alexandrea, Mancini, Grazia, M S, Powell-Hamilton, Nina, van de Kamp, Jiddeke, Grebe, Theresa, Dean, John, Ross, Alison, Crawford, Heather, P, Powis, Zoe, Cho, Megan, T, Willing, Marcia, C, Manwaring, Linda, Schot, Rachel, Nava, Caroline, Afenjar, Alexandra, Lessel, Davor, Wagner, Matias, Klopstock, Thomas, Winkelmann, Juliane, Catarino, Claudia, B, Retterer, Kyle, Schuette, Jane, L, Innis, Jeffrey, W, Pizzino, Amy, Lüttgen, Sabine, Denecke, Jonas, Strom, Tim, M, Monaghan, Kristin, G, Yuan, Zuo-Fei, Dubbs, Holly, Bend, Renee, Lee, Jennifer, A, Lyons, Michael, J, Hoefele, Julia, Günthner, Roman, Reutter, Heiko, Keren, Boris, Radtke, Kelly, Sherbini, Omar, Mrokse, Cameron, Helbig, Katherine, L, Odent, Sylvie, Cogne, Benjamin, Mercier, Sandra, Bezieau, Stephane, Besnard, Thomas, Kury, Sebastien, Redon, Richard, Reinson, Karit, Wojcik, Monica, H, Õunap, Katrin, Ilves, Pilvi, Innes, A. Micheil, Kernohan, Kristin, D, Costain, Gregory, Meyn, M. Stephen, Chitayat, David, Zackai, Elaine, Lehman, Anna, Kitson, Hilary, Martin, Martin, Martinez-Agosto, Julian, A, Nelson, Stan, F, Palmer, Christina, G S, Papp, Jeanette, C, Parker, Neil, H, Sinsheimer, Janet, S, Vilain, Eric, Wan, Jijun, Yoon, Amanda, J, Zheng, Allison, Brimble, Elise, Ferrero, Giovanni Battista, Radio, Francesca Clementina, Carli, Diana, Barresi, Sabina, Brusco, Alfredo, Tartaglia, Marco, Thomas, Jennifer Muncy, Umana, Luis, Weiss, Marjan, M, Gotway, Garrett, Stuurman, K, E, Thompson, Michelle, L, Mcwalter, Kirsty, Stumpel, Constance, T R M, Stevens, Servi, J C, Stegmann, Alexander, P A, Tveten, Kristian, Vøllo, Arve, Prescott, Trine, Fagerberg, Christina, Laulund, Lone Walentin, Larsen, Martin, J, Byler, Melissa, Lebel, Robert Roger, Hurst, Anna, C, Dean, Joy, Schrier Vergano, Samantha, A, Norman, Jennifer, Mercimek-Andrews, Saadet, Neira, Juanita, van Allen, Margot, I, Longo, Nicola, Sellars, Elizabeth, Louie, Raymond, J, Cathey, Sara, S, Brokamp, Elly, Heron, Delphine, Snyder, Molly, Vanderver, Adeline, Simon, Celeste, de la Cruz, Xavier, Padilla, Natália, Crump, J. Gage, Chung, Wendy, Garcia, Benjamin, Hakonarson, Hakon, H, Bhoj, Elizabeth, J

المساهمون: Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes (Biosit : Biologie - Santé - Innovation Technologique), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Institut du Thorax Nantes, ANR-16-IDEX-0007,NExT (I-SITE),NExT (I-SITE)(2016)

المصدر: ISSN: 2375-2548 ; Science Advances ; https://hal.sorbonne-universite.fr/hal-04504898 ; Science Advances , 2020, 6 (49), ⟨10.1126/sciadv.abc9207⟩.

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/33268356; PUBMED: 33268356; PUBMEDCENTRAL: PMC7821880

الاتاحة: https://hal.sorbonne-universite.fr/hal-04504898
https://hal.sorbonne-universite.fr/hal-04504898v1/document
https://hal.sorbonne-universite.fr/hal-04504898v1/file/sciadv.abc9207.pdf
https://doi.org/10.1126/sciadv.abc9207

المؤلفون: Yuan, Bo, Neira, Juanita, Pehlivan, Davut, Santiago-Sim, Teresa, Song, Xiaofei, Rosenfeld, Jill, Posey, Jennifer E., Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P., Baple, Emma L., Dean, John, Fong, Chin-To, Hickey, Scott E., Hudgins, Louanne, Leon, Eyby, Madan-Khetarpal, Suneeta, Rawlins, Lettie, Rustad, Cecilie F., Stray-Pedersen, Asbjørg, Tveten, Kristian, Wenger, Olivia, Diaz, Jullianne, Jenkins, Laura, Martin, Laura, McGuire, Marianne, Pietryga, Marguerite, Ramsdell, Linda, Slattery, Leah, Abid, Farida, Bertuch, Alison A., Grange, Dorothy, Immken, LaDonna, Schaaf, Christian P., Van Esch, Hilde, Bi, Weimin, Cheung, Sau Wai, Breman, Amy M., Smith, Janice L., Shaw, Chad, Crosby, Andrew H., Eng, Christine, Yang, Yaping, Lupski, James R., Xiao, Rui, Liu, Pengfei

المصدر: Genetics in Medicine ; volume 21, issue 3, page 663-675 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-018-0085-6
http://www.nature.com/articles/s41436-018-0085-6.pdf
http://www.nature.com/articles/s41436-018-0085-6
https://api.elsevier.com/content/article/PII:S1098360021010169?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021010169?httpAccept=text/plain

المؤلفون: Murphey, Kristen, Neira, Juanita, Flatley, Caitlin

المصدر: Molecular Genetics and Metabolism ; volume 138, issue 3, page 107465 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2023.107465
https://api.elsevier.com/content/article/PII:S1096719223000951?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719223000951?httpAccept=text/plain

المؤلفون: Yuan, Bo, Neira, Juanita, Gu, Shen, Harel, Tamar, Liu, Pengfei, Briceño Balcázar, Ignacio, Elsea, Sarah H., Gómez Gutiérrez, Alberto, Potocki, Lorraine, Lupski, James R.

المصدر: Universidad de La Sabana ; Intellectum Repositorio Universidad de La Sabana

مصطلحات موضوعية: Contiguous gene deletion, PMP22, RAI1, FoSTeS/MMBIR

وصف الملف: application/pdf

Relation: Hum Genet. 2016 Oct; 135(10): 1161–1174; Yuan, B. Neira, J. Gu, S, Harel, T. Liu, P. Briceño, I. Elsea, SH. Gómez, A. Potocki, L. Lupski JR (2016). Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Human Genetics. 135(10), 1161-1174 doi 10.1007/s00439-016-1703-5 ISSN 03406717, 14321203; https://www.ncbi.nlm.nih.gov/pubmed/27386852; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021589/; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021589/pdf/nihms801552.pdf; http://hdl.handle.net/10818/32970

الاتاحة: http://hdl.handle.net/10818/32970
https://www.ncbi.nlm.nih.gov/pubmed/27386852
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021589/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021589/pdf/nihms801552.pdf
https://doi.org/10.1007/s00439-016-1703-5

المؤلفون: Donti, Taraka R., Cappuccio, Gerarda, Hubert, Leroy, Neira, Juanita, Atwal, Paldeep S., Miller, Marcus J., Cardon, Aaron L., Sutton, V. Reid, Porter, Brenda E., Baumer, Fiona M., Wangler, Michael F., Sun, Qin, Emrick, Lisa T., Elsea, Sarah H.

المساهمون: Medical Genetics Research Fellowship Program (MJM)

المصدر: Molecular Genetics and Metabolism Reports ; volume 8, page 61-66 ; ISSN 2214-4269

الاتاحة: http://dx.doi.org/10.1016/j.ymgmr.2016.07.007
https://api.elsevier.com/content/article/PII:S2214426916300556?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S2214426916300556?httpAccept=text/xml

المؤلفون: Dennis, Hailey, Neira, Juanita, Ocampo, Claudia, Verma, Sumit, Pham, Nga, Lall, Neil

المصدر: Molecular Genetics and Metabolism ; volume 132, page S151 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/s1096-7192(21)00321-8
https://api.elsevier.com/content/article/PII:S1096719221003218?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719221003218?httpAccept=text/plain

المؤلفون: Cabanillas Neira, Juanita

المساهمون: Silva, Patricia

مصطلحات موضوعية: Pensamiento crítico, Planificación, Articulación, Habilidades de orden superior, Metacognición, Ciclos de enseñanza, 050003C

وصف الملف: 129 p.; application/pdf

Relation: http://hdl.handle.net/11447/5341

الاتاحة: http://hdl.handle.net/11447/5341

المؤلفون: Gutiérrez Neira, Juanita, Moreno Bernal, Yasbleidy

المساهمون: Meneses, Alba Lucía

المصدر: Universidad de la Sabana ; Intellectum Repositorio Universidad de la Sabana

مصطلحات موضوعية: Motivación (Psicología), Motivación del empleado, Relaciones laborales

Relation: http://hdl.handle.net/10818/4580; 87159; TE04135

الاتاحة: http://hdl.handle.net/10818/4580

المؤلفون: Yuan, Bo, Neira, Juanita, Gu, Shen, Harel, Tamar, Liu, Pengfei, Briceño, Ignacio, Elsea, Sarah, Gómez, Alberto, Potocki, Lorraine, Lupski, James

المصدر: Human Genetics; Oct2016, Vol. 135 Issue 10, p1161-1174, 14p

مصطلحات موضوعية: SMITH-Magenis syndrome, PERIPHERAL neuropathy, CHROMOSOMES, GENES, PHENOTYPES, INVASIVE electrophysiologic testing

المؤلفون: Baxter, Samantha M., Posey, Jennifer E., Lake, Nicole J., Sobreira, Nara, Chong, Jessica X., Buyske, Steven, Blue, Elizabeth E., Chadwick, Lisa H., Coban-Akdemir, Zeynep H., Doheny, Kimberly F., Davis, Colleen P., Lek, Monkol, Wellington, Christopher, Jhangiani, Shalini N., Gerstein, Mark, Gibbs, Richard A., Lifton, Richard P., MacArthur, Daniel G., Matise, Tara C., Lupski, James R., Valle, David, Bamshad, Michael J., Hamosh, Ada, Mane, Shrikant, Nickerson, Deborah A., Adams, Marcia, Aguet, François, Akay, Gulsen, Anderson, Peter, Antonescu, Corina, Arachchi, Harindra M., Atik, Mehmed M., Austin-Tse, Christina A., Babb, Larry, Bacus, Tamara J., Bahrambeigi, Vahid, Balasubramanian, Suganthi, Bayram, Yavuz, Beaudet, Arthur L., Beck, Christine R., Belmont, John W., Below, Jennifer E., Bilguvar, Kaya, Boehm, Corinne D., Boerwinkle, Eric, Boone, Philip M., Bowne, Sara J., Brand, Harrison, Buckingham, Kati J., Byrne, Alicia B., Calame, Daniel, Campbell, Ian M., Cao, Xiaolong, Carvalho, Claudia, Chander, Varuna, Chang, Jaime, Chao, Katherine R., Chinn, Ivan K., Clarke, Declan, Collins, Ryan L., Cummings, Beryl, Dardas, Zain, Dawood, Moez, Delano, Kayla, DiTroia, Stephanie P., Doddapaneni, Harshavardhan, Du, Haowei, Du, Renqian, Duan, Ruizhi, Eldomery, Mohammad, Eng, Christine M., England, Eleina, Evangelista, Emily, Everett, Selin, Fatih, Jawid, Felsenfeld, Adam, Francioli, Laurent C., Frazar, Christian D., Fu, Jack, Gamarra, Emmanuel, Gambin, Tomasz, Gan, Weiniu, Gandhi, Mira, Ganesh, Vijay S., Garimella, Kiran V., Gauthier, Laura D., Giroux, Danielle, Gonzaga-Jauregui, Claudia, Goodrich, Julia K., Gordon, William W., Griffith, Sean, Grochowski, Christopher M., Gu, Shen, Gudmundsson, Sanna, Hall, Stacey J., Hansen, Adam, Harel, Tamar, Harmanci, Arif O., Herman, Isabella, Hetrick, Kurt, Hijazi, Hadia, Horike-Pyne, Martha, Hsu, Elvin, Hu, Jianhong, Huang, Yongqing, Hurless, Jameson R., Jahl, Steve, Jarvik, Gail P., Jiang, Yunyun, Johanson, Eric, Jolly, Angad, Karaca, Ender, Khayat, Michael, Knight, James, Kolar, J. Thomas, Kumar, Sushant, Lalani, Seema, Laricchia, Kristen M., Larkin, Kathryn E., Leal, Suzanne M., Lemire, Gabrielle, Lewis, Richard A., Li, He, Ling, Hua, Lipson, Rachel B., Liu, Pengfei, Lovgren, Alysia Kern, López-Giráldez, Francesc, MacMillan, Melissa P., Mangilog, Brian E., Mano, Stacy, Marafi, Dana, Marosy, Beth, Marshall, Jamie L., Martin, Renan, Marvin, Colby T., Mawhinney, Michelle, McGee, Sean, McGoldrick, Daniel J., Mehaffey, Michelle, Mekonnen, Betselote, Meng, Xiaolu, Mitani, Tadahiro, Miyake, Christina Y., Mohr, David, Morris, Shaine, Mullen, Thomas E., Murdock, David R., Murugan, Mullai, Muzny, Donna M., Myers, Ben, Neira, Juanita, Nguyen, Kevin K., Nielsen, Patrick M., Nudelman, Natalie, O’Heir, Emily, O’Leary, Melanie C., Ongaco, Chrissie, Orange, Jordan, Osei-Owusu, Ikeoluwa A., Paine, Ingrid S., Pais, Lynn S., Paschall, Justin, Patterson, Karynne, Pehlivan, Davut, Pelle, Benjamin, Penney, Samantha, Perez de Acha Chavez, Jorge, Pierce-Hoffman, Emma, Poli, Cecilia M., Punetha, Jaya, Radhakrishnan, Aparna, Richardson, Matthew A., Rodrigues, Eliete, Roote, Gwendolin T., Rosenfeld, Jill A., Ryke, Erica L., Sabo, Aniko, Sanchez, Alice, Schrauwen, Isabelle, Scott, Daryl A., Sedlazeck, Fritz, Serrano, Jillian, Shaw, Chad A., Shelford, Tameka, Shively, Kathryn M., Singer-Berk, Moriel, Smith, Joshua D., Snow, Hana, Snyder, Grace, Solomonson, Matthew, Son, Rachel G., Song, Xiaofei, Stankiewicz, Pawel, Stephan, Taylorlyn, Sutton, V. Reid, Sveden, Abigail, Sánchez, Diana Cornejo, Tackett, Monica, Talkowski, Michael, Threlkeld, Machiko S., Tiao, Grace, Udler, Miriam S., Vail, Laura, Valivullah, Zaheer, Valkanas, Elise, VanNoy, Grace E., Wang, Qingbo S., Wang, Gao, Wang, Lu, Wangler, Michael F., Watts, Nicholas A., Weisburd, Ben, Weiss, Jeffrey M., Wheeler, Marsha M., White, Janson J., Williamson, Clara E., Wilson, Michael W., Wiszniewski, Wojciech, Withers, Marjorie A., Witmer, Dane, Witzgall, Lauren, Wohler, Elizabeth, Wojcik, Monica H., Wong, Isaac, Wood, Jordan C., Wu, Nan, Xing, Jinchuan, Yang, Yaping, Yi, Qian, Yuan, Bo, Zeiger, Jordan E., Zhang, Chaofan, Zhang, Peng, Zhang, Yan, Zhang, Xiaohong, Zhang, Yeting, Zhang, Shifa, Zoghbi, Huda, van den Veyver, Igna, Rehm, Heidi L., O’Donnell-Luria, Anne

المصدر: Genetics in Medicine; 20220101, Issue: Preprints

المؤلفون: Dennis, Hailey (AUTHOR), Neira, Juanita (AUTHOR), Ocampo, Claudia (AUTHOR), Verma, Sumit (AUTHOR), Pham, Nga (AUTHOR), Lall, Neil (AUTHOR)

المصدر: Molecular Genetics & Metabolism. 2021 Supplement 1, Vol. 132, pS151-S151. 1p.

مصطلحات موضوعية: *GENEALOGY, *PATIENTS

المؤلفون: Huang, Yue (AUTHOR), Sharma, Rajesh (AUTHOR), Feigenbaum, Annette (AUTHOR), Lee, Chung (AUTHOR), Sahai, Inderneel (AUTHOR), Sanchez, Rossana (AUTHOR), Neira, Juanita (AUTHOR), Brooks, Susan (AUTHOR), Jackson, Kelly (AUTHOR), Wong, Derek (AUTHOR), Cederbaum, Stephen (AUTHOR), Lacbawan, Felicitas (AUTHOR), Rowland, Charles (AUTHOR), Tanpaiboon, Pranoot (AUTHOR), Salazar, Denise (AUTHOR)

المصدر: Molecular Genetics & Metabolism. 2021 Supplement 1, Vol. 132, pS8-S8. 1p.

مصطلحات موضوعية: *NEWBORN screening, *ORNITHINE, *ARGININE, *CITRULLINE, *ASYMMETRIC dimethylarginine