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1دورية أكاديمية
المؤلفون: Töpf, AnaAff1, IDs41588023016510_cor1, Cox, Dan, Zaharieva, Irina T., Di Leo, ValeriaAff1, Aff3, Sarparanta, JaakkoAff4, Aff5, Jonson, Per HaraldAff4, Aff5, Sealy, Ian M.Aff6, Aff7, Smolnikov, Andrei, White, Richard J.Aff6, Aff7, Vihola, AnnaAff4, Aff5, Aff9, Savarese, MarcoAff4, Aff5, Merteroglu, MuniseAff6, Aff10, Wali, Neha, Laricchia, Kristen M.Aff12, Aff13, Venturini, Cristina, Vroling, Bas, Stenton, Sarah L.Aff12, Aff16, Cummings, Beryl B., Harris, ElizabethAff1, Aff17, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M., Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valerie, Beggs, Alan H., Bodi, Istvan, Bommireddipalli, Shobhana, Bönnemann, Carsten G., Cairns, Anita, Chiew, Mei-Ting, Claeys, Kristl G.Aff27, Aff28, Cooper, Sandra T., Davis, Mark R., Donkervoort, Sandra, Erasmus, Corrie E., Fassad, Mahmoud R.Aff30, Aff31, Genetti, Casie A., Grosmann, Carla, Jungbluth, HeinzAff33, Aff34, Kamsteeg, Erik-Jan, Lornage, Xavière, Löscher, Wolfgang N., Malfatti, Edoardo, Manzur, Adnan, Martí, PilarAff38, Aff39, Mongini, Tiziana E., Muelas, NuriaAff38, Aff39, Aff41, Aff42, Nishikawa, Atsuko, O’Donnell-Luria, AnneAff12, Aff16, Ogonuki, Narumi, O’Grady, Gina L., O’Heir, Emily, Paquay, Stéphanie, Phadke, Rahul, Pletcher, Beth A., Romero, Norma B., Schouten, Meyke, Shah, Snehal, Smuts, Izelle, Sznajer, Yves, Tasca, Giorgio, Taylor, Robert W.Aff30, Aff31, Tuite, Allysa, Van den Bergh, Peter, VanNoy, Grace, Voermans, Nicol C., Wanschitz, Julia V., Wraige, Elizabeth, Yoshimura, Kimihiko, Oates, Emily C., Nakagawa, Osamu, Nishino, Ichizo, Laporte, Jocelyn, Vilchez, Juan J.Aff38, Aff39, MacArthur, Daniel G.Aff12, Aff56, Aff57, Sarkozy, Anna, Cordell, Heather J., Udd, BjarneAff4, Aff5, Aff9, Busch-Nentwich, Elisabeth M.Aff6, Aff7, Muntoni, FrancescoAff2, Aff59, Straub, VolkerAff1, IDs41588023016510_cor85
المصدر: Nature Genetics. 56(3):395-407
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2دورية أكاديميةDe novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
المؤلفون: Villamor-Payà, Marina, Sanchiz-Calvo, María, Smak, Jordann, Pais, Lynn, Sud, Malika, Shankavaram, Uma, Lovgren, Alysia Kern, Austin-Tse, Christina, Ganesh, Vijay S., Gay, Marina, Vilaseca, Marta, Arauz-Garofalo, Gianluca, Palenzuela, Lluís, VanNoy, Grace, O’Donnell-Luria, Anne, Stracker, Travis H.
المصدر: In iScience 21 June 2024 27(6)
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3دورية أكاديمية
المؤلفون: Abouhala, Siwaar, Albert, Jessica, Almalvez, Miguel, Alvarez, Raquel, Amin, Mutaz, Anderson, Peter, Aradhya, Swaroop, Ashley, Euan, Assimes, Themistocles, Auriga, Light, Austin-Tse, Christina, Bamshad, Mike, Barseghyan, Hayk, Baxter, Samantha, Behera, Sairam, Beheshti, Shaghayegh, Bejerano, Gill, Berger, Seth, Bernstein, Jon, Best, Sabrina, Blankenmeister, Benjamin, Blue, Elizabeth, Boerwinkle, Eric, Bonkowski, Emily, Bonner, Devon, Boone, Philip, Bornhorst, Miriam, Brand, Harrison, Buckingham, Kati, Calame, Daniel, Carter, Jennefer, Casadei, Silvia, Chadwick, Lisa, Chavez, Clarisa, Chen, Ziwei, Chinn, Ivan, Chong, Jessica, Coban-Akdemir, Zeynep, Cohen, Andrea J., Conner, Sarah, Conomos, Matthew, Coveler, Karen, Cui, Ya Allen, Currin, Sara, Daber, Robert, Dardas, Zain, Davis, Colleen, Dawood, Moez, de Dios, Ivan, de Esch, Celine, Delaney, Meghan, Delot, Emmanuele, DiTroia, Stephanie, Doddapaneni, Harsha, Du, Haowei, Duan, Ruizhi, Dugan-Perez, Shannon, Duong, Nhat, Duyzend, Michael, Eichler, Evan, Emami, Sara, Fraser, Jamie, Fusaro, Vincent, Galey, Miranda, Ganesh, Vijay, Garcia, Brandon, Garimella, Kiran, Gibbs, Richard, Gifford, Casey, Ginsburg, Amy, Goddard, Page, Gogarten, Stephanie, Gogate, Nikhita, Gordon, William, Gorzynski, John E., Greenleaf, William, Grochowski, Christopher, Groopman, Emily, Sousa, Rodrigo Guarischi, Gudmundsson, Sanna, Gulati, Ashima, Hall, Stacey, Harvey, William, Hawley, Megan, Heavner, Ben, Horike-Pyne, Martha, Hu, Jianhong, Huang, Yongqing, Hwang, James, Jarvik, Gail, Jensen, Tanner, Jhangiani, Shalini, Jimenez-Morales, David, Jin, Christopher, Saad, Ahmed K., Kahn-Kirby, Amanda, Kain, Jessica, Kaur, Parneet, Keehan, Laura, Knoblach, Susan, Ko, Arthur, Kundaje, Anshul, Kundu, Soumya, Lancaster, Samuel M., Larsson, Katie, Lee, Arthur, Lemire, Gabrielle, Lewis, Richard, Li, Wei, Li, Yidan, Liu, Pengfei, LoTempio, Jonathan, Lupski, James (Jim), Ma, Jialan, MacArthur, Daniel, Mahmoud, Medhat, Malani, Nirav, Mangilog, Brian, Marafi, Dana, Marmolejos, Sofia, Marten, Daniel, Martinez, Eva, Marvin, Colby, Marwaha, Shruti, Mastrorosa, Francesco Kumara, Matalon, Dena, May, Susanne, McGee, Sean, Meador, Lauren, Mefford, Heather, Mendez, Hector Rodrigo, Miller, Alexander, Miller, Danny E., Mitani, Tadahiro, Montgomery, Stephen, Moyses, Mariana, Munderloh, Chloe, Muzny, Donna, Nelson, Sarah, Nguyen, Thuy-mi P., Nguyen, Jonathan, Nussbaum, Robert, Nykamp, Keith, O'Callaghan, William, O'Heir, Emily, O'Leary, Melanie, Olsen, Jeren, Osei-Owusu, Ikeoluwa, O'Donnell-Luria, Anne, Padhi, Evin, Pais, Lynn, Pan, Miao, Panchal, Piyush, Patterson, Karynne, Payne, Sheryl, Pehlivan, Davut, Petrowski, Paul, Pham, Alicia, Pitsava, Georgia, Podesta, Astaria`Sara, Ponce, Sarah, Porter, Elizabeth, Posey, Jennifer, Prosser, Jaime, Quertermous, Thomas, Rai, Archana, Ramani, Arun, Rehm, Heidi, Reuter, Chloe, Reuter, Jason, Richardson, Matthew, Rivera-Munoz, Andres, Rubio, Oriane, Sabo, Aniko, Salani, Monica, Samocha, Kaitlin, Sanchis-Juan, Alba, Savage, Sarah, Scott, Evette, Scott, Stuart, Sedlazeck, Fritz, Shah, Gulalai, Shojaie, Ali, Singh, Mugdha, Smith, Kevin, Smith, Josh, Snow, Hana, Snyder, Michael, Socarras, Kayla, Starita, Lea, Stark, Brigitte, Stenton, Sarah, Stergachis, Andrew, Stilp, Adrienne, Sutton, V. Reid, Tai, Jui-Cheng, Talkowski, Michael (Mike), Tise, Christina, Tong, Catherine (Cat), Tsao, Philip, Ungar, Rachel, VanNoy, Grace, Vilain, Eric, Voutos, Isabella, Walker, Kim, Wei, Chia-Lin, Weisburd, Ben, Weiss, Jeff, Wellington, Chris, Weng, Ziming, Westheimer, Emily, Wheeler, Marsha, Wheeler, Matthew, Wiel, Laurens, Wilson, Michael, Wojcik, Monica, Wong, Quenna, Xiao, Changrui, Yadav, Rachita, Yi, Qian, Yuan, Bo, Zhao, Jianhua, Zhen, Jimmy, Zhou, Harry, Chong, Jessica X., Berger, Seth I., Smith, Erica, Calame, Daniel G., Hawley, Megan H., Rivera-Munoz, E. Andres, Bamshad, Michael J., Rehm, Heidi L.
المصدر: In Genetics in Medicine June 2024
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4دورية أكاديمية
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
URL الوصول: https://escholarship.org/uc/item/2cw9q317
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5دورية أكاديمية
المؤلفون: Stenton, Sarah L.Aff1, Aff2, Aff3, O’Leary, Melanie C., Lemire, GabrielleAff1, Aff2, VanNoy, Grace E., DiTroia, StephanieAff1, Aff2, Ganesh, Vijay S.Aff1, Aff2, Aff4, Groopman, EmilyAff1, Aff2, O’Heir, EmilyAff1, Aff2, Mangilog, Brian, Osei-Owusu, Ikeoluwa, Pais, Lynn S.Aff1, Aff2, Serrano, JillianAff1, Aff2, Singer-Berk, Moriel, Weisburd, Ben, Wilson, Michael W., Austin-Tse, ChristinaAff2, Aff3, Abdelhakim, MarwaAff5, Aff6, Althagafi, AzzaAff5, Aff6, Aff7, Babbi, Giulia, Bellazzi, RiccardoAff10, Aff9, Bovo, Samuele, Carta, Maria Giulia, Casadio, Rita, Coenen, Pieter-JanAff12, Aff13, De Paoli, Federica, Floris, Matteo, Gajapathy, ManavalanAff15, Aff16, Aff17, Hoehndorf, RobertAff5, Aff6, Jacobsen, Julius O. B., Joseph, Thomas, Kamandula, Akash, Katsonis, Panagiotis, Kint, Cyrielle, Lichtarge, OlivierAff21, Aff22, Aff23, Limongelli, Ivan, Lu, Yulan, Magni, Paolo, Mamidi, Tarun Karthik KumarAff15, Aff16, Aff17, Martelli, Pier Luigi, Mulargia, Marta, Nicora, GiovannaAff10, Aff9, Nykamp, Keith, Pejaver, VikasAff25, Aff26, Peng, Yisu, Pham, Thi Hong Cam, Podda, Maurizio S.Aff14, Aff28, Aff29, Aff36, Rao, Aditya, Rizzo, Ettore, Saipradeep, Vangala G., Savojardo, Castrense, Schols, PeterAff12, Aff13, Shen, YangAff30, Aff31, Aff32, Sivadasan, Naveen, Smedley, Damian, Soru, Dorian, Srinivasan, Rajgopal, Sun, Yuanfei, Sunderam, Uma, Tan, Wuwei, Tiwari, Naina, Wang, Xiao, Wang, Yaqiong, Williams, Amanda, Worthey, Elizabeth A.Aff15, Aff16, Aff17, Yin, Rujie, You, Yuning, Zeiberg, Daniel, Zucca, Susanna, Bakolitsa, Constantina, Brenner, Steven E., Fullerton, Stephanie M., Radivojac, Predrag, Rehm, Heidi L.Aff2, Aff3, O’Donnell-Luria, AnneAff1, Aff2, Aff3, IDs4024602400604w_cor74
المصدر: Human Genomics. 18(1)
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6دورية أكاديمية
المؤلفون: Abouhala, Siwaar, Albert, Jessica, Almalvez, Miguel, Alvarez, Raquel, Amin, Mutaz, Anderson, Peter, Aradhya, Swaroop, Ashley, Euan, Assimes, Themistocles, Auriga, Light, Austin-Tse, Christina, Bamshad, Mike, Barseghyan, Hayk, Baxter, Samantha, Behera, Sairam, Beheshti, Shaghayegh, Bejerano, Gill, Berger, Seth, Bernstein, Jon, Best, Sabrina, Blankenmeister, Benjamin, Blue, Elizabeth, Boerwinkle, Eric, Bonkowski, Emily, Bonner, Devon, Boone, Philip, Bornhorst, Miriam, Bozkurt-Yozgatli, Tugce, Brand, Harrison, Buckingham, Kati, Calame, Daniel, Casadei, Silvia, Chadwick, Lisa, Chavez, Clarisa, Chen, Ziwei, Chinn, Ivan, Chong, Jessica, Coban-Akdemir, Zeynep, Cohen, Andrea J., Conner, Sarah, Conomos, Matthew, Coveler, Karen, Cui, Ya Allen, Currin, Sara, Daber, Robert, Dardas, Zain, Davis, Colleen, Dawood, Moez, de Dios, Ivan, de Esch, Celine, Delaney, Meghan, Délot, Emmanuèle, DiTroia, Stephanie, Doddapaneni, Harsha, Du, Haowei, Duan, Ruizhi, Dugan-Perez, Shannon, Duong, Nhat, Duyzend, Michael, Eichler, Evan, Emami, Sara, Fatih, Jawid, Fraser, Jamie, Fusaro, Vincent, Galey, Miranda, Ganesh, Vijay, Garimella, Kiran, Gibbs, Richard, Gifford, Casey, Ginsburg, Amy, Goddard, Pagé, Gogarten, Stephanie, Gogate, Nikhita, Gordon, William, Gorzynski, John E., Greenleaf, William, Grochowski, Christopher, Groopman, Emily, Guarischi Sousa, Rodrigo, Gudmundsson, Sanna, Gulati, Ashima, Guo, Daniel, Hale, Walker, Hall, Stacey, Harvey, William, Hawley, Megan, Heavner, Ben, Herman, Isabella, Horike-Pyne, Martha, Hu, Jianhong, Huang, Yongqing, Hwang, James, Jarvik, Gail, Jensen, Tanner, Jhangiani, Shalini, Jimenez-Morales, David, Jin, Christopher, Saad, Ahmed K., Kahn-Kirby, Amanda, Kain, Jessica, Kaur, Parneet, Keehan, Laura, Knoblach, Susan, Ko, Arthur, Kohler, Jennefer, Kundaje, Anshul, Kundu, Soumya, Lancaster, Samuel M., Larsson, Katie, Lemire, Gabrielle, Lewis, Richard, Li, Wei, Li, Yidan, Liu, Pengfei, LoTempio, Jonathan, Lupski, James, Ma, Jialan, MacArthur, Daniel, Mahmoud, Medhat, Malani, Nirav, Mangilog, Brian, Marafi, Dana, Marmolejos, Sofia, Marten, Daniel, Martinez, Eva, Marvin, Colby, Marwaha, Shruti, Kumara Mastrorosa, Francesco, Matalon, Dena, May, Susanne, McGee, Sean, Meador, Lauren, Mefford, Heather, Rodrigo Mendez, Hector, Miller, Alexander, Miller, Danny E., Mitani, Tadahiro, Montgomery, Stephen, Moussa, Hala Mohamed, Moyses, Mariana, Munderloh, Chloe, Muzny, Donna, Nelson, Sarah, Neu, Matthew B., Nguyen, Jonathan, Nguyen, Thuy-mi P., Nussbaum, Robert, Nykamp, Keith, O'Callaghan, William, O'Heir, Emily, O'Leary, Melanie, Olsen, Jeren, Osei-Owusu, Ikeoluwa, O'Donnell-Luria, Anne, Padhi, Evin, Pais, Lynn, Pan, Miao, Panchal, Piyush, Patterson, Karynne, Payne, Sheryl, Pehlivan, Davut, Petrowski, Paul, Pham, Alicia, Pitsava, Georgia, Podesta, Astaria, Ponce, Sarah, Posey, Jennifer, Prosser, Jaime, Quertermous, Thomas, Rai, Archana, Ramani, Arun, Rehm, Heidi, Reuter, Chloe, Reuter, Jason, Richardson, Matthew, Rivera-Munoz, Andres, Rubio, Oriane, Sabo, Aniko, Salani, Monica, Samocha, Kaitlin, Sanchis-Juan, Alba, Savage, Sarah, Scott, Stuart, Scott, Evette, Sedlazeck, Fritz, Shah, Gulalai, Shojaie, Ali, Singh, Mugdha, Smith, Josh, Smith, Kevin, Snow, Hana, Snyder, Michael, Socarras, Kayla, Starita, Lea, Stark, Brigitte, Stenton, Sarah, Stergachis, Andrew, Stilp, Adrienne, Sundaram, Laksshman, Sutton, V. Reid, Tai, Jui-Cheng, Talkowski, Michael, Tise, Christina, Tong, Catherine, Tsao, Philip, Ungar, Rachel, VanNoy, Grace, Vilain, Eric, Voutos, Isabella, Walker, Kim, Weisburd, Ben, Weiss, Jeff, Wellington, Chris, Weng, Ziming, Westheimer, Emily, Wheeler, Marsha, Wheeler, Matthew, Wiel, Laurens, Wilson, Michael, Wojcik, Monica, Wong, Quenna, Wong, Issac, Xiao, Changrui, Yadav, Rachita, Yi, Qian, Yuan, Bo, Zhao, Jianhua, Zhen, Jimmy, Zhou, Harry, Wojcik, Monica H., Reuter, Chloe M., Duyzend, Michael H., Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Starita, Lea M., Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., Sedlazeck, Fritz J.
المصدر: In The American Journal of Human Genetics 3 August 2023 110(8):1229-1248
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7دورية أكاديمية
المؤلفون: Serrano, Jillian G., O'Leary, Melanie, VanNoy, Grace E., Mangilog, Brian E., Holm, Ingrid A., Fraiman, Yarden S., Rehm, Heidi L., O'Donnell-Luria, Anne, Wojcik, Monica H.
المصدر: In Clinical Therapeutics August 2023 45(8):745-753
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8دورية أكاديمية
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9دورية أكاديمية
المؤلفون: Chai, Guoliang, Webb, Alice, Li, Chen, Antaki, Danny, Lee, Sangmoon, Breuss, Martin W, Lang, Nhi, Stanley, Valentina, Anzenberg, Paula, Yang, Xiaoxu, Marshall, Trevor, Gaffney, Patrick, Wierenga, Klaas J, Chung, Brian Hon-Yin, Tsang, Mandy Ho-Yin, Pais, Lynn S, Lovgren, Alysia Kern, VanNoy, Grace E, Rehm, Heidi L, Mirzaa, Ghayda, Leon, Eyby, Diaz, Jullianne, Neumann, Alexander, Kalverda, Arnout P, Manfield, Iain W, Parry, David A, Logan, Clare V, Johnson, Colin A, Bonthron, David T, Valleley, Elizabeth MA, Issa, Mahmoud Y, Abdel-Ghafar, Sherif F, Abdel-Hamid, Mohamed S, Jennings, Patricia, Zaki, Maha S, Sheridan, Eamonn, Gleeson, Joseph G
المصدر: Neuron. 109(2)
مصطلحات موضوعية: Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Rare Diseases, Genetics, Neurodegenerative, Brain Disorders, Orphan Drug, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Neurological, Amino Acid Sequence, Animals, Cell Cycle Proteins, Cerebellar Diseases, Cohort Studies, Female, Gene Knockout Techniques, HEK293 Cells, Heredodegenerative Disorders, Nervous System, Humans, Male, Mice, Mice, Inbred C57BL, Mice, Transgenic, Microcephaly, Mutation, Pedigree, Peptidylprolyl Isomerase, Protein Structure, Secondary, Protein Structure, Tertiary, RNA Splicing Factors, Spliceosomes, NMR, PCHM, PPIL1, PRP17, alternative splicing, brain development, cyclophilin, microcephaly, neurodegeneration, pontocerebellar hypoplasia, proline isomerase, recessive disease, spliceosome, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6w53352f
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10دورية أكاديمية
المؤلفون: Serey-Gaut, Margaux, Cortes, Marisol, Makrythanasis, Periklis, Suri, Mohnish, Taylor, Alexander M.R., Sullivan, Jennifer A., Asleh, Ayat N., Mitra, Jaba, Dar, Mohamad A., McNamara, Amy, Shashi, Vandana, Dugan, Sarah, Song, Xiaofei, Rosenfeld, Jill A., Cabrol, Christelle, Iwaszkiewicz, Justyna, Zoete, Vincent, Pehlivan, Davut, Akdemir, Zeynep Coban, Roeder, Elizabeth R., Littlejohn, Rebecca Okashah, Dibra, Harpreet K., Byrd, Philip J., Stewart, Grant S., Geckinli, Bilgen B., Posey, Jennifer, Westman, Rachel, Jungbluth, Chelsy, Eason, Jacqueline, Sachdev, Rani, Evans, Carey-Anne, Lemire, Gabrielle, VanNoy, Grace E., O’Donnell-Luria, Anne, Mau-Them, Frédéric Tran, Juven, Aurélien, Piard, Juliette, Nixon, Cheng Yee, Zhu, Ying, Ha, Taekjip, Buckley, Michael F., Thauvin, Christel, Essien Umanah, George K., Van Maldergem, Lionel, Lupski, James R., Roscioli, Tony, Dawson, Valina L., Dawson, Ted M., Antonarakis, Stylianos E.
المصدر: In The American Journal of Human Genetics 2 March 2023 110(3):499-515