-
1دورية أكاديمية
المؤلفون: Sacoto, Maria J Guillen, Tchasovnikarova, Iva A, Torti, Erin, Forster, Cara, Andrew, E Hallie, Anselm, Irina, Baranano, Kristin W, Briere, Lauren C, Cohen, Julie S, Craigen, William J, Cytrynbaum, Cheryl, Ekhilevitch, Nina, Elrick, Matthew J, Fatemi, Ali, Fraser, Jamie L, Gallagher, Renata C, Guerin, Andrea, Haynes, Devon, High, Frances A, Inglese, Cara N, Kiss, Courtney, Koenig, Mary Kay, Krier, Joel, Lindstrom, Kristin, Marble, Michael, Meddaugh, Hannah, Moran, Ellen S, Morel, Chantal F, Mu, Weiyi, Muller, Eric A, Nance, Jessica, Natowicz, Marvin R, Numis, Adam L, Ostrem, Bridget, Pappas, John, Stafstrom, Carl E, Streff, Haley, Sweetser, David A, Szybowska, Marta, Network, Undiagnosed Diseases, Walker, Melissa A, Wang, Wei, Weiss, Karin, Weksberg, Rosanna, Wheeler, Patricia G, Yoon, Grace, Kingston, Robert E, Juusola, Jane
المصدر: American Journal of Human Genetics. 107(2)
مصطلحات موضوعية: Neurodegenerative, Rare Diseases, Pediatric, Genetics, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Neurosciences, Congenital Structural Anomalies, Clinical Research, Dental/Oral and Craniofacial Disease, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adenosine Triphosphatases, Adolescent, Adult, Child, Child, Preschool, Craniofacial Abnormalities, Female, Genetic Diseases, Inborn, Growth Disorders, Heterozygote, Humans, Infant, Intellectual Disability, Male, Microcephaly, Middle Aged, Mutation, Neurodevelopmental Disorders, Phenotype, Transcription Factors, Young Adult, Undiagnosed Diseases Network, CMT2Z, Leigh-like disease, MORC2, developmental delay, intellectual disability, microcephaly, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6n82g05cTest
-
2دورية أكاديمية
المؤلفون: Ng, Bobby G, Sosicka, Paulina, Agadi, Satish, Almannai, Mohammed, Bacino, Carlos A, Barone, Rita, Botto, Lorenzo D, Burton, Jennifer E, Carlston, Colleen, Chung, Brian Hon‐Yin, Cohen, Julie S, Coman, David, Dipple, Katrina M, Dorrani, Naghmeh, Dobyns, William B, Elias, Abdallah F, Epstein, Leon, Gahl, William A, Garozzo, Domenico, Hammer, Trine Bjørg, Haven, Jaclyn, Héron, Delphine, Herzog, Matthew, Hoganson, George E, Hunter, Jesse M, Jain, Mahim, Juusola, Jane, Lakhani, Shenela, Lee, Hane, Lee, Joy, Lewis, Katherine, Longo, Nicola, Lourenço, Charles Marques, Mak, Christopher CY, McKnight, Dianalee, Mendelsohn, Bryce A, Mignot, Cyril, Mirzaa, Ghayda, Mitchell, Wendy, Muhle, Hiltrud, Nelson, Stanley F, Olczak, Mariusz, Palmer, Christina GS, Partikian, Arthur, Patterson, Marc C, Pierson, Tyler M, Quinonez, Shane C, Regan, Brigid M, Ross, M Elizabeth, Sacoto, Maria J Guillen, Scaglia, Fernando, Scheffer, Ingrid E, Segal, Devorah, Singhal, Nilika Shah, Striano, Pasquale, Sturiale, Luisa, Symonds, Joseph D, Tang, Sha, Vilain, Eric, Willis, Mary, Wolfe, Lynne A, Yang, Hui, Yano, Shoji, Powis, Zöe, Suchy, Sharon F, Rosenfeld, Jill A, Edmondson, Andrew C, Grunewald, Stephanie, Freeze, Hudson H
المصدر: Human Mutation. 40(7)
مصطلحات موضوعية: Clinical Research, Pediatric, Genetics, Aetiology, 2.1 Biological and endogenous factors, Animals, Biopsy, CHO Cells, Cells, Cultured, Congenital Disorders of Glycosylation, Cricetulus, Female, Humans, Male, Monosaccharide Transport Proteins, Mutation, Uridine Diphosphate Galactose, congenital disorders of glycosylation, glycoside, nucleotide sugar transporter, UDP-galactose, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/48w6q46xTest
-
3دورية أكاديمية
المؤلفون: Palmer, Elizabeth E, Hong, Seungbeom, Zahrani, Fatema Al, Hashem, Mais O, Aleisa, Fajr A, Ahmed, Heba M Jalal, Kandula, Tejaswi, Macintosh, Rebecca, Minoche, Andre E, Puttick, Clare, Gayevskiy, Velimir, Drew, Alexander P, Cowley, Mark J, Dinger, Marcel, Rosenfeld, Jill A, Xiao, Rui, Cho, Megan T, Yakubu, Suliat F, Henderson, Lindsay B, Sacoto, Maria J Guillen, Begtrup, Amber, Hamad, Muddathir, Shinawi, Marwan, Andrews, Marisa V, Jones, Marilyn C, Lindstrom, Kristin, Bristol, Ruth E, Kayani, Saima, Snyder, Molly, Villanueva, María Mercedes, Schteinschnaider, Angeles, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Roscioli, Tony, Kirk, Edwin P, Bye, Ann, Merzaban, Jasmeen, Jaremko, Łukasz, Jaremko, Mariusz, Sachdev, Rani K, Alkuraya, Fowzan S, Arold, Stefan T
المصدر: American Journal of Human Genetics. 104(3)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Neurodegenerative, Rare Diseases, Genetics, Pediatric, Brain Disorders, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Amino Acid Motifs, Child, Child, Preschool, Female, Genetic Variation, Humans, Infant, Male, Nerve Tissue Proteins, Neurocognitive Disorders, Phenotype, Prognosis, Repetitive Sequences, Nucleic Acid, Syndrome, HX repeat, allelic disorders, developmental delay, dysmorphic, intellectual disability, 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/9q1277p4Test
-
4دورية أكاديمية
المؤلفون: Zarate, Yuri A., Uehara, Tomoko, Abe, Kota, Oginuma, Masayuki, Harako, Sora, Ishitani, Shizuka, Lehesjoki, Anna-Elina, Bierhals, Tatjana, Kloth, Katja, Ehmke, Nadja, Horn, Denise, Holtgrewe, Manuel, Anderson, Katherine, Viskochil, David, Edgar-Zarate, Courtney L., Sacoto, Maria J. Guillen, Schnur, Rhonda E., Morrow, Michelle M., Sanchez-Valle, Amarilis, Pappas, John, Rabin, Rachel, Muona, Mikko, Anttonen, Anna-Kaisa, Platzer, Konrad, Luppe, Johannes, Gburek-Augustat, Janina, Kaname, Tadashi, Okamoto, Nobuhiko, Mizuno, Seiji, Kaido, Yusaku, Ohkuma, Yoshiaki, Hirose, Yutaka, Ishitani, Tohru, Kosaki, Kenjiro
المساهمون: Department of Medical and Clinical Genetics, University of Helsinki, Medicum, HUSLAB, Tutkimusryhmä Anna-Elina Lehesjoki, Neuroscience Center, Helsinki University Hospital Area
مصطلحات موضوعية: MEDIATOR COMPLEX, PROTEIN, SEQUENCE, GENES, MED12, CDK8, 3111 Biomedicine
وصف الملف: application/pdf
العلاقة: Part of this work was supported by the Ministry of Education, Culture, Sports, Science and Technology (MEXT KAKENHI; grant numbers 24118003 and 25131704 to Y.O. and grant numbers 20K21502 and 20H05365 to T.I.), the Japanese Society for the Promotion of Science (JSPS) (KAKENHI; grant numbers 20570162 and 17K07282 to Y.H.), and Japan Agency for Medical Research and Development (JP18ek0109288h0002 and JP19ek0109288h003 to T.I.).; Zarate , Y A , Uehara , T , Abe , K , Oginuma , M , Harako , S , Ishitani , S , Lehesjoki , A-E , Bierhals , T , Kloth , K , Ehmke , N , Horn , D , Holtgrewe , M , Anderson , K , Viskochil , D , Edgar-Zarate , C L , Sacoto , M J G , Schnur , R E , Morrow , M M , Sanchez-Valle , A , Pappas , J , Rabin , R , Muona , M , Anttonen , A-K , Platzer , K , Luppe , J , Gburek-Augustat , J , Kaname , T , Okamoto , N , Mizuno , S , Kaido , Y , Ohkuma , Y , Hirose , Y , Ishitani , T & Kosaki , K 2021 , ' CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants ' , Genetics In medicine , vol. 23 , no. 6 , pp. 1050-1057 . https://doi.org/10.1038/s41436-020-01091-9Test; http://hdl.handle.net/10138/353316Test; 242bf5f7-79ce-4649-8e37-fca9fcc07ea0; 000611490600003
-
5دورية أكاديمية
المؤلفون: Guissart, Claire, Latypova, Xenia, Rollier, Paul, Khan, Tahir N, Stamberger, Hannah, McWalter, Kirsty, Cho, Megan T, Kjaergaard, Susanne, Weckhuysen, Sarah, Lesca, Gaetan, Besnard, Thomas, Õunap, Katrin, Schema, Lynn, Chiocchetti, Andreas G, McDonald, Marie, de Bellescize, Julitta, Vincent, Marie, Van Esch, Hilde, Sattler, Shannon, Forghani, Irman, Thiffault, Isabelle, Freitag, Christine M, Barbouth, Deborah Sara, Cadieux-Dion, Maxime, Willaert, Rebecca, Sacoto, Maria J Guillen, Safina, Nicole P, Dubourg, Christèle, Grote, Lauren, Carré, Wilfrid, Saunders, Carol, Pajusalu, Sander, Farrow, Emily, Boland, Anne, Karlowicz, Danielle Hays, Deleuze, Jean-François, Wojcik, Monica H, Pressman, Rena, Isidor, Bertrand, Vogels, Annick, Van Paesschen, Wim, Al-Gazali, Lihadh, Shamsi, Aisha Mohamed Al, Claustres, Mireille, Pujol, Aurora, Sanders, Stephan J, Rivier, François, Leboucq, Nicolas, Cogné, Benjamin, Sasorith, Souphatta, Sanlaville, Damien, Retterer, Kyle, Odent, Sylvie, Katsanis, Nicholas, Bézieau, Stéphane, Koenig, Michel, Davis, Erica E, Pasquier, Laurent, Küry, Sébastien
المصدر: American Journal of Human Genetics. 102(5)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, Neurosciences, Pediatric, Rare Diseases, Brain Disorders, Autism, Mental Health, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Aged, 80 and over, Alleles, Animals, Autistic Disorder, Brain, Cerebellar Ataxia, Child, Child, Preschool, DNA Copy Number Variations, Disease Models, Animal, Female, Genes, Dominant, Genetic Complementation Test, Humans, Intellectual Disability, Larva, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Missense, Nuclear Receptor Subfamily 1, Group F, Member 1, Purkinje Cells, Syndrome, Zebrafish, RORA, autistic features, cerebellar ataxia, dual molecular effects, epilepsy, intellectual disability, neurodevelopmental disorder, 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/7rq0h7ddTest
-
6دورية أكاديمية
المؤلفون: Kour, Sukhleen, Rajan, Deepa S., Fortuna, Tyler R., Anderson, Eric N., Ward, Caroline, Lee, Youngha, Lee, Sangmoon, Shin, Yong Beom, Chae, Jong-Hee, Choi, Murim, Siquier, Karine, Cantagrel, Vincent, Amiel, Jeanne, Stolerman, Elliot S., Barnett, Sarah S., Cousin, Margot A., Quintero-Castro, Diana Lucia, McDonald, Kimberly, Kirmse, Brian, Nemeth, Andrea H., Rajasundaram, Dhivyaa, Innes, A. Micheil, Lynch, Danielle, Frosk, Patrick, Collins, Abigail E., Gibbons, Melissa, Yang, Michele, Desguerre, Isabelle, Boddaert, Natalie, Gitiaux, Cyril, Rydning, Siri Lynne, Selmer, Kaja Kristine, Urreizti, R, Garcia-Oguiza, Alberto, Osorio, Andrés Nascimento, Verdura, Edgard, Pujol, Aurora, McCurry, Hannah R., Landers, John E., Agnihotri, Sameer, Andriescu, E. Corina, Moody, Shade B., Phornphutkul, Chanika, Sacoto, Maria J. Guillen, Begtrup, Amber, Houlden, Henry, Kirschner, Janbernd, Schorling, David, Rudnik-Schöneborn, Sabine, Strom, Tim M., Leiz, Steffen, Juliette, Kali, Richardson, Randal, Yang, Ying, Zhang, Yuehua, Wang, Minghui, Wang, Jia, Wang, Xiaodong, Platzer, Konrad, Donkervoort, Sandra, Bonnemann, Carsten, Wagner, Matias, Issa, Mahmoud Y., Elbendary, Hasnaa M., Stanley, Valentina, Maroofian, Reza, Gleeson, Joseph G., Zaki, Maha S., Senderek, Jan, Pandey, Udai Bhan
المصدر: 2041-1723.
العلاقة: http://urn.nb.no/URN:NBN:no-95561Test; Kour, Sukhleen Rajan, Deepa S. Fortuna, Tyler R. Anderson, Eric N. Ward, Caroline Lee, Youngha Lee, Sangmoon Shin, Yong Beom Chae, Jong-Hee Choi, Murim Siquier, Karine Cantagrel, Vincent Amiel, Jeanne Stolerman, Elliot S. Barnett, Sarah S. Cousin, Margot A. Quintero-Castro, Diana Lucia McDonald, Kimberly Kirmse, Brian Nemeth, Andrea H. Rajasundaram, Dhivyaa Innes, A. Micheil Lynch, Danielle Frosk, Patrick Collins, Abigail E. Gibbons, Melissa Yang, Michele Desguerre, Isabelle Boddaert, Natalie Gitiaux, Cyril Rydning, Siri Lynne Selmer, Kaja Kristine Urreizti, R Garcia-Oguiza, Alberto Osorio, Andrés Nascimento Verdura, Edgard Pujol, Aurora McCurry, Hannah R. Landers, John E. Agnihotri, Sameer Andriescu, E. Corina Moody, Shade B. Phornphutkul, Chanika Sacoto, Maria J. Guillen Begtrup, Amber Houlden, Henry Kirschner, Janbernd Schorling, David Rudnik-Schöneborn, Sabine Strom, Tim M. Leiz, Steffen Juliette, Kali Richardson, Randal Yang, Ying Zhang, Yuehua Wang, Minghui Wang, Jia Wang, Xiaodong Platzer, Konrad Donkervoort, Sandra Bonnemann, Carsten Wagner, Matias Issa, Mahmoud Y. Elbendary, Hasnaa M. Stanley, Valentina Maroofian, Reza Gleeson, Joseph G. Zaki, Maha S. Senderek, Jan Pandey, Udai Bhan . Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nature Communications. 2021, 12(1), 1-15; http://hdl.handle.net/10852/92987Test; 2003066; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Nature Communications&rft.volume=12&rft.spage=1&rft.date=2021; Nature Communications; 12; https://doi.org/10.1038/s41467-021-22627-wTest; URN:NBN:no-95561; Fulltext https://www.duo.uio.no/bitstream/handle/10852/92987/1/Loss%2Bof%2Bfunction%2Bmutations%2Bin%2BGEMIN5%2Bcause%2Ba.pdfTest
الإتاحة: https://doi.org/10.1038/s41467-021-22627-wTest
http://hdl.handle.net/10852/92987Test
http://urn.nb.no/URN:NBN:no-95561Test -
7دورية أكاديمية
المؤلفون: Brunet, Theresa, McWalter, Kirsty, Mayerhanser, Katharina, Anbouba, Grace M., Armstrong-Javors, Amy, Bader, Ingrid, Baugh, Evan, Begtrup, Amber, Bupp, Caleb P., Callewaert, Bert, Cereda, Anna, Cousin, Margot A., Jimenez, Juan C. Del Rey, Demmer, Laurie, Dsouza, Nikita R., Fleischer, Nicole, Gavrilova, Ralitza H., Ghate, Sumedha, Graf, Elisabeth, Green, Andrew, Green, Sarah R., Iascone, Maria, Kdissa, Ameni, Klee, Dirk, Klee, Eric W., Lancaster, Emily, Lindstrom, Kristin, Mayr, Johannes A., McEntagart, Meriel, Meeks, Naomi J. L., Mittag, Dana, Moore, Harrison, Olsen, Anne K., Ortiz, Damara, Parsons, Gretchen, Pena, Loren D. M., Person, Richard E., Punj, Sumit, Ramos-Rivera, Gonzalo Alonso, Sacoto, Maria J. Guillen, Bradley Schaefer, G., Schnur, Rhonda E., Scott, Tiana M., Scott, Daryl A., Serbinski, Carolyn R., Shashi, Vandana, Siu, Victoria M., Stadheim, Barbro Fossoy, Sullivan, Jennifer A., Svantnerova, Jana, Velsher, Lea, Wargowski, David S., Wentzensen, Ingrid M., Wieczorek, Dagmar, Winkelmann, Juliane, Yap, Patrick, Zech, Michael, Zimmermann, Michael T., Meitinger, Thomas, Distelmaier, Felix, Wagner, Matias
المصدر: GENETICS IN MEDICINE ; ISSN: 1098-3600 ; ISSN: 1530-0366
مصطلحات موضوعية: Medicine and Health Sciences, DOSAGE COMPENSATION, TRANSCRIPTIONAL REGULATION, MSL COMPLEX, ACETYLATION, MUTATIONS, DOMAIN, DECAY, MOF, autism, developmental delay, histone acetylation, MSL3, X-linked
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/8687772Test; http://hdl.handle.net/1854/LU-8687772Test; http://dx.doi.org/10.1038/s41436-020-00993-yTest; https://biblio.ugent.be/publication/8687772/file/8692632Test
الإتاحة: https://doi.org/10.1038/s41436-020-00993-yTest
https://biblio.ugent.be/publication/8687772Test
http://hdl.handle.net/1854/LU-8687772Test
https://biblio.ugent.be/publication/8687772/file/8692632Test -
8دورية أكاديمية
المؤلفون: Hüffmeier, Ulrike, Kraus, Cornelia, Reuter, Miriam S, Uebe, Steffen, Abbott, Mary-Alice, Ahmed, Syed A, Rawson, Kristyn L, Barr, Eileen, Li, Hong, Bruel, Ange-Line, Faivre, Laurence, Tran Mau-Them, Frédéric, Botti, Christina, Brooks, Susan, Burns, Kaitlyn, Ward, D Isum, Dutra-Clarke, Marina, Martinez-Agosto, Julian A, Lee, Hane, Nelson, Stanley F, Zacher, Pia, Abou Jamra, Rami, Klöckner, Chiara, McGaughran, Julie, Kohlhase, Jürgen, Schuhmann, Sarah, Moran, Ellen, Pappas, John, Raas-Rothschild, Annick, Sacoto, Maria J Guillen, Henderson, Lindsay B, Palculict, Timothy Blake, Mullegama, Sureni V, Zghal Elloumi, Houda, Reich, Adi, Schrier Vergano, Samantha A, Wahl, Erica, Reis, André, Zweier, Christiane
المصدر: Hüffmeier, Ulrike; Kraus, Cornelia; Reuter, Miriam S; Uebe, Steffen; Abbott, Mary-Alice; Ahmed, Syed A; Rawson, Kristyn L; Barr, Eileen; Li, Hong; Bruel, Ange-Line; Faivre, Laurence; Tran Mau-Them, Frédéric; Botti, Christina; Brooks, Susan; Burns, Kaitlyn; Ward, D Isum; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Nelson, Stanley F; . (2021). EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Orphanet journal of rare diseases, 16(1), p. 136. BioMed Central 10.1186/s13023-021-01744-1
مصطلحات موضوعية: 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://boris.unibe.ch/162638Test/
-
9دورية أكاديمية
المؤلفون: Kour, Sukhleen, Rajan, Deepa S., Fortuna, Tyler R., Anderson, Eric N., Ward, Caroline, Lee, Youngha, Lee, Sangmoon, Shin, Yong Beom, Chae, Jong-Hee, Choi, Murim, Siquier, Karine, Cantagrel, Vincent, Amiel, Jeanne, Stolerman, Elliot S., Barnett, Sarah S., Cousin, Margot A., Castro, Diana, McDonald, Kimberly, Kirmse, Brian, Nemeth, Andrea H., Rajasundaram, Dhivyaa, Innes, A. Micheil, Lynch, Danielle, Frosk, Patrick, Collins, Abigail, Gibbons, Melissa, Yang, Michele, Desguerre, Isabelle, Boddaert, Nathalie, Gitiaux, Cyril, Rydning, Siri Lynne, Selmer, Kaja K., Urreizti, Roser, Garcia-Oguiza, Alberto, Osorio, Andrés Nascimento, Verdura, Edgard, Pujol, Aurora, McCurry, Hannah R., Landers, John E., Agnihotri, Sameer, Andriescu, E. Corina, Moody, Shade B., Phornphutkul, Chanika, Sacoto, Maria J. Guillen, Begtrup, Amber, Houlden, Henry, Kirschner, Janbernd, Schorling, David, Rudnik-Schöneborn, Sabine, Strom, Tim M.
المصدر: Nature Communications ; volume 12, issue 1 ; ISSN 2041-1723
مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41467-021-22627-wTest
https://www.nature.com/articles/s41467-021-22627-w.pdfTest
https://www.nature.com/articles/s41467-021-22627-wTest -
10دورية أكاديمية
المؤلفون: Zarate, Yuri A., Uehara, Tomoko, Abe, Kota, Oginuma, Masayuki, Harako, Sora, Ishitani, Shizuka, Lehesjoki, Anna-Elina, Bierhals, Tatjana, Kloth, Katja, Ehmke, Nadja, Horn, Denise, Holtgrewe, Manuel, Anderson, Katherine, Viskochil, David, Edgar-Zarate, Courtney L., Sacoto, Maria J. Guillen, Schnur, Rhonda E., Morrow, Michelle M., Sanchez-Valle, Amarilis, Pappas, John, Rabin, Rachel, Muona, Mikko, Anttonen, Anna-Kaisa, Platzer, Konrad, Luppe, Johannes, Gburek-Augustat, Janina, Kaname, Tadashi, Okamoto, Nobuhiko, Mizuno, Seiji, Kaido, Yusaku, Ohkuma, Yoshiaki, Hirose, Yutaka, Ishitani, Tohru, Kosaki, Kenjiro
المساهمون: Ministry of Education, Culture, Sports, Science and Technology, Japan Society for the Promotion of Science
المصدر: Genetics in Medicine ; volume 23, issue 6, page 1050-1057 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1038/s41436-020-01091-9Test
https://www.nature.com/articles/s41436-020-01091-9.pdfTest
https://www.nature.com/articles/s41436-020-01091-9Test
https://api.elsevier.com/content/article/PII:S1098360021052059?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021052059?httpAccept=text/plainTest