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1Academic Journal
المؤلفون: Emily Spector, Erica Andersen, John Herriges, Anne Higgins, Brynn Levy, Ludmila Matyakhina, Christa Martin, Daniel Pineda-Alvarez, Lina Shao, Shashirekha Shetty, Andrea Vaags, Erik Thorland, Sung-Hae Kang, Chelsea Lowther, Dominic McMullan, Erin Riggs
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101482- (2024)
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: R Alan Harris, Chad Shaw, Jian Li, Sau Wai Cheung, Cristian Coarfa, Mira Jeong, Margaret A Goodell, Lisa D White, Ankita Patel, Sung-Hae Kang, A Craig Chinault, Tomasz Gambin, Anna Gambin, James R Lupski, Aleksandar Milosavljevic
المصدر: PLoS Genetics, Vol 9, Iss 2, p e1003333 (2013)
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: Jian Li, R Alan Harris, Sau Wai Cheung, Cristian Coarfa, Mira Jeong, Margaret A Goodell, Lisa D White, Ankita Patel, Sung-Hae Kang, Chad Shaw, A Craig Chinault, Tomasz Gambin, Anna Gambin, James R Lupski, Aleksandar Milosavljevic
المصدر: PLoS Genetics, Vol 8, Iss 5, p e1002692 (2012)
وصف الملف: electronic resource
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4
المؤلفون: Alexander Nobori, Cyriac Kandoth, Thomas Lawton, Sung Hae Kang
المصدر: Cancer Genetics. :15-16
مصطلحات موضوعية: Cancer Research, Genetics, Molecular Biology
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5
المؤلفون: Grace J. Noh, Marjon van Slegtenhorst, Ingrid M.B.H. van de Laar, Lisa Ohden, Joshua L. Deignan, Jane Juusola, Naghmeh Dorrani, Katherine Agre, Anne Gregor, Vidya Krishnamurthy, Arif B. Ekici, Julian A. Martinez-Agosto, Vimla Aggarwal, T. Niroshi Senaratne, Seema R. Lalani, Antje Wiesener, Stella A. de Man, Mahshid S. Azamian, Marina S. Dutra-Clarke, Jill A. Rosenfeld, Ahna M. Neustadt, Daryl A. Scott, Brent L. Fogel, Stanley F. Nelson, Ghayda M. Mirzaa, Irma van de Beek, Kirsty McWalter, Wayne W. Grody, Rachel Straussberg, Ralitza H. Gavrilova, Hane Lee, Anna Fliedner, Quinten Waisfisz, Mieke M. van Haelst, Jessica Kianmahd, Fabiola Quintero-Rivera, Marina Dutra-Clarke, Rony Cohen, Laura Davis-Keppen, Anna Alkelai, Christiane Zweier, Fan Xia, Brooke Horist, Philipp Kirchner, Sung-Hae Kang, Franceska L. Hinkamp, Natalie Lippa, Valerie A. Arboleda
المساهمون: Human Genetics, Clinical Genetics, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Fliedner, A, Kirchner, P, Wiesener, A, van de Beek, I, Waisfisz, Q, van Haelst, M, Scott, D A, Lalani, S R, Rosenfeld, J A, Azamian, M S, Xia, F, Dutra-Clarke, M, Martinez-Agosto, J A, Lee, H, Noh, G J, Lippa, N, Alkelai, A, Aggarwal, V, Agre, K E, Gavrilova, R, Mirzaa, G M, Straussberg, R, Cohen, R, Horist, B, Krishnamurthy, V, McWalter, K, Juusola, J, Davis-Keppen, L, Ohden, L, van Slegtenhorst, M, de Man, S A, Ekici, A B, Gregor, A, van de Laar, I, Zweier, C & UCLA Clinical Genomics Center 2020, ' Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing ', American journal of human genetics, vol. 107, no. 3, pp. 544-554 . https://doi.org/10.1016/j.ajhg.2020.06.019
American journal of human genetics, 107(3), 544-554. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 107(3), 544-554. Cell Pressمصطلحات موضوعية: Male, Heterozygote, RNA polymerase II, Biology, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Transcription (biology), Report, Exome Sequencing, Genetics, medicine, Animals, Humans, RNA, Messenger, RNA Processing, Post-Transcriptional, Child, Gene, Genetics (clinical), Exome sequencing, 030304 developmental biology, seizures, 0303 health sciences, Gene knockdown, Serine-Arginine Splicing Factors, Genetic Variation, SCAF4, medicine.disease, Phenotype, neurodevelopmental disorder, Drosophila melanogaster, Neurodevelopmental Disorders, intellectual disability, Gene Knockdown Techniques, RNA splicing, Mutation, biology.protein, epilepsy, Female, RNA Polymerase II, mRNA processing, 030217 neurology & neurosurgery, Locomotion
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المؤلفون: Nathan Kopp, Sarah Dry, Sung-Hae Kang
المصدر: Cancer Genetics. :14
مصطلحات موضوعية: Cancer Research, Genetics, Molecular Biology
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7
المؤلفون: Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David R. Bearden, Asbjorg Stray-Pedersen, Oyvind L. Busk, Nicholas Stong, Eriskay Liston, Ronald D. Cohn, Fernando Scaglia, Jill A. Rosenfeld, Jennifer Tarpinian, Cara M. Skraban, Matthew A. Deardorff, Jeremy N. Friedman, Zeynep Coban Akdemir, Nicole Walley, Mohamad A. Mikati, Peter G. Kranz, Joan Jasien, Allyn McConkie-Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon Freedman, Deeksha Bali, Francisca Millan, Sherri Bale, Stanley F. Nelson, Hane Lee, Naghmeh Dorrani, David B. Goldstein, Rui Xiao, Yaping Yang, Jennifer E. Posey, Julian A. Martinez-Agosto, James R. Lupski, Michael F. Wangler, Vandana Shashi, Wayne W. Grody, Samuel P. Strom, Eric Vilain, Joshua Deignan, Fabiola Quintero-Rivera, Sibel Kantarci, Sureni Mullegama, Sung-Hae Kang, Mercedes E. Alejandro, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Gary D. Clark, William J. Craigen, Shweta U. Dhar, Lisa T. Emrick, Brett H. Graham, Neil A. Hanchard, Mahim Jain, Seema R. Lalani, Brendan H. Lee, Richard A. Lewis, Azamian S. Mashid, Paolo M. Moretti, Sarah K. Nicholas, Jordan S. Orange, Lorraine Potocki, Daryl A. Scott, Alyssa A. Tran, Hugo J. Bellen, Shinya Yamamoto, Christine M. Eng, Donna M. Muzny, Patricia A. Ward, Andrea L. Gropman, Yong-hui Jiang, Loren D.M. Pena, Rebecca C. Spillmann, Jennifer A. Sullivan, Nicole M. Walley, Alan H. Beggs, Lauren C. Briere, Cynthia M. Cooper, Laurel A. Donnell-Fink, Elizabeth L. Krieg, Joel B. Krier, Sharyn A. Lincoln, Joseph Loscalzo, Richard L. Maas, Calum A. MacRae, J. Carl Pallais, Lance H. Rodan, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Chris A. Walsh, Cecilia Esteves, Ingrid A. Holm, Isaac S. Kohane, Paul Mazur, Alexa T. McCray, Matthew Might, Rachel B. Ramoni, Kimberly Splinter, David P. Bick, Camille L. Birch, Braden E. Boone, Donna M. Brown, Dan C. Dorset, Lori H. Handley, Howard J. Jacob, Angela L. Jones, Jozef Lazar, Shawn E. Levy, J. Scott Newberry, Molly C. Schroeder, Kimberly A. Strong, Elizabeth A. Worthey, Jyoti G. Dayal, David J. Eckstein, Sarah E. Gould, Ellen M. Howerton, Donna M. Krasnewich, Carson R. Loomis, Laura A. Mamounas, Teri A. Manolio, John J. Mulvihill, Anastasia L. Wise, Ariane G. Soldatos, Matthew Brush, Jean-Philippe F. Gourdine, Melissa Haendel, David M. Koeller, Jennifer E. Kyle, Thomas O. Metz, Katrina M. Waters, Bobbie-Jo M. Webb-Robertson, Euan A. Ashley, Jonathan A. Bernstein, Annika M. Dries, Paul G. Fisher, Jennefer N. Kohler, Daryl M. Waggott, Matt T. Wheeler, Patricia A. Zornio, Patrick Allard, Hayk Barseghyan, Esteban C. Dell’Angelica, Katrina M. Dipple, Matthew R. Herzog, Stan F. Nelson, Christina G.S. Palmer, Jeanette C. Papp, Janet S. Sinsheimer, Christopher J. Adams, Elizabeth A. Burke, Katherine R. Chao, Mariska Davids, David D. Draper, Tyra Estwick, Trevor S. Frisby, Kate Frost, Valerie Gartner, Rena A. Godfrey, Mitchell Goheen, Gretchen A. Golas, Mary 'Gracie' G. Gordon, Catherine A. Groden, Mary E. Hackbarth, Isabel Hardee, Jean M. Johnston, Alanna E. Koehler, Lea Latham, Yvonne L. Latour, C. Christopher Lau, Denise J. Levy, Adam P. Liebendorder, Ellen F. Macnamara, Valerie V. Maduro, Thomas C. Markello, Alexandra J. McCarty, Jennifer L. Murphy, Michele E. Nehrebecky, Donna Novacic, Barbara N. Pusey, Sarah Sadozai, Katherine E. Schaffer, Prashant Sharma, Sara P. Thomas, Nathanial J. Tolman, Camilo Toro, Zaheer M. Valivullah, Colleen E. Wahl, Mike Warburton, Alec A. Weech, Guoyun Yu, David R. Adams, William A. Gahl, May Christine V. Malicdan, Cynthia J. Tifft, Lynne A. Wolfe, Paul R. Lee, John H. Postlethwait, Monte Westerfield, Anna Bican, Rizwan Hamid, John H. Newman, John A. Phillips, Amy K. Robertson, Joy D. Cogan
المصدر: The American Journal of Human Genetics. 100:343-351
مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Mutation, Missense, Biology, Cataract, Germline, 03 medical and health sciences, Neurodevelopmental disorder, Cataracts, Report, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Amino Acid Sequence, Child, Alleles, Genetics (clinical), Cerebral atrophy, Brain, Genetic Variation, Infant, medicine.disease, Magnetic Resonance Imaging, Neoplasm Proteins, Pedigree, 3. Good health, Repressor Proteins, Phenotype, 030104 developmental biology, Child, Preschool, Failure to thrive, Female, medicine.symptom, Spasms, Infantile, Genome-Wide Association Study
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8
المؤلفون: Barbara Susnik, Tamera J. Lillemoe, Michaela Tsai, Sung-Hae Kang, Caitlin Kelly, Karen K. Swenson, Erin Grimm, Marsha Finkelstein
المصدر: The Breast Journal. 23:607-609
مصطلحات موضوعية: Oncology, Treatment response, medicine.medical_specialty, Chemotherapy, business.industry, medicine.medical_treatment, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Predictive value of tests, Internal medicine, Internal Medicine, medicine, Carcinoma, Surgery, 030212 general & internal medicine, Neo adjuvant chemotherapy, business, Adjuvant, Neoadjuvant therapy, Invasive Lobular Breast Carcinoma
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9
المؤلفون: Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
مصطلحات موضوعية: endocrine system diseases, fungi, mental disorders
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10
المؤلفون: Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
مصطلحات موضوعية: endocrine system diseases, mental disorders, 3. Good health
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11
المؤلفون: Carlos A. Bacino, Sung Hae Kang, Ian B. Gibson, Marwan Shinawi, Zhilian Xia, Ankita Patel, Sangeetha Mahadevan, Pawel Stankiewicz, Przemyslaw Szafranski, Christian P. Schaaf, Arthur L. Beaudet, Joanna Wiszniewska, Brett H. Graham, Lorraine Potocki, Seema R. Lalani, Richard E. Person, Frank J. Probst, Sau Wai Cheung
المصدر: Human Mutation. 31:840-850
مصطلحات موضوعية: Male, alpha7 Nicotinic Acetylcholine Receptor, Developmental Disabilities, Molecular Sequence Data, Non-allelic homologous recombination, Chromosome Disorders, Receptors, Nicotinic, Biology, Article, Gene Duplication, Intellectual Disability, Gene duplication, Genetics, medicine, Humans, Child, Pathological, Genetics (clinical), Chromosome Aberrations, Family Health, Chromosomes, Human, Pair 15, Comparative Genomic Hybridization, Mental Disorders, Breakpoint, CHRNA7, Chromosome Breakage, Sequence Analysis, DNA, Hypotonia, Pedigree, Child, Preschool, biology.protein, Muscle Hypotonia, Female, Chromosome breakage, medicine.symptom, Comparative genomic hybridization
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12
المؤلفون: Sung-Hae Kang, Lynne V. Abruzzo, Patrick A. Lennon, Alan Craig Chinault, P. Nagesh Rao, Yin Feng Li, Ankita Patel, Chad A. Shaw, Sau Wai Cheung
المصدر: American Journal of Hematology. 83:540-546
مصطلحات موضوعية: Chronic lymphocytic leukemia, Gene Dosage, Pilot Projects, Biology, Sensitivity and Specificity, Gene dosage, Genomic Instability, immune system diseases, hemic and lymphatic diseases, Chromosome regions, medicine, Chromosomes, Human, Humans, neoplasms, In Situ Hybridization, Fluorescence, Oligonucleotide Array Sequence Analysis, Chromosome Aberrations, Genome, Human, Hematology, medicine.disease, Leukemia, Lymphocytic, Chronic, B-Cell, Human genetics, Leukemia, Immunology, Cancer research, Human genome, DNA microarray, Comparative genomic hybridization
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13
المؤلفون: Shuo Han, Mounia Tannour-Louet, Sean T Corbett, Svetlana Yatsenko, Lindsay Meyers, Sung-Hae Kang, Sau Wai Cheung, Dolores Lamb
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14
المؤلفون: Marsha Finkelstein, Barbara Susnik, Tamera J. Lillemoe, Erin V Grimm, Michaela L. Tsai, Karen K. Swenson, Caitlin Kelly, Sung-Hae Kang
المصدر: Molecular Cancer Research. 14:A57-A57
مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, Univariate analysis, Chemotherapy, Multivariate analysis, business.industry, medicine.medical_treatment, Cancer, medicine.disease, Breast cancer, Internal medicine, Invasive lobular carcinoma, medicine, Breast-conserving surgery, Cancer research, Stage (cooking), skin and connective tissue diseases, business, Molecular Biology
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15
المؤلفون: Ankita Patel, James R. Lupski, Sung-Hae Kang, Sau Wai Cheung, Sandra Darilek, Arthur L. Beaudet, Chad A. Shaw, Amber Pursley, A. Craig Chinault, Patricia A. Ward, Christine M. Eng, Marcia J. Simovich, Ignatia B. Van den Veyver
المصدر: American Journal of Obstetrics and Gynecology. 197:S173
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Obstetrics, Obstetrics and Gynecology, Medicine, Prenatal diagnosis, business
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16Academic Journal
المؤلفون: Harris, R. Alan, Shaw, Chad, Jian Li, Sau Wai Cheung, Coarfa, Cristian, Jeong, Mira, Goodell, Margaret A., White, Lisa D., Patel, Ankita, Sung-Hae Kang, Chinault, A. Craig, Gambin, Tomasz, Gambin, Anna, Lupski, James R., Milosavljevic, Aleksandar
المصدر: PLoS Genetics; Feb2013, Vol. 9 Issue 2, Special section p1-3, 3p, 1 Graph
مصطلحات موضوعية: METHYLATION, GENOMICS, CPG nucleotides, NUCLEOTIDES, NUCLEIC acids
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المؤلفون: Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
مصطلحات موضوعية: endocrine system diseases, mental disorders, 3. Good health
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18
المؤلفون: Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
مصطلحات موضوعية: 3. Good health
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19
المؤلفون: Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
مصطلحات موضوعية: 3. Good health
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20
المؤلفون: Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
مصطلحات موضوعية: 3. Good health