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1Academic Journal
المؤلفون: Halyn Orellana, Jia Yan, Alex Paul, Mari Tokita, Yan Ding, Rajarshi Ghosh, Katie L. Lewis, Joie Davis, Leila Jamal, Colleen Jodarski, Morgan Similuk, Nermina Saucier, Zhanyang Zhu, Yihe Wang, Sitao Wu, Jason Ruggieri, NIAID Centralized Sequencing Program Working Group, Helen C. Su, Gulbu Uzel, Shareef Nahas, Megan Cooper, Magdalena A. Walkiewicz, Bryce A. Seifert, Nadjalisse Reynolds-Lallement, Rachel Gore Moses, Michael Gore Moses, Sarah Bannon, Sophie Byers, Ekaterina Damskey, Sruthi Srinivasan, Adrienne Borges, Nicole Gentile
المصدر: Frontiers in Immunology, Vol 15 (2024)
مصطلحات موضوعية: gonadal mosaicism, gonosomal mosaicism, PIK3CD, inborn errors of immunity, primary immunodeficiency diseases, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Konstantin Okonechnikov, Aylin Camgöz, Owen Chapman, Sameena Wani, Donglim Esther Park, Jens-Martin Hübner, Abhijit Chakraborty, Meghana Pagadala, Rosalind Bump, Sahaana Chandran, Katerina Kraft, Rocio Acuna-Hidalgo, Derek Reid, Kristin Sikkink, Monika Mauermann, Edwin F. Juarez, Anne Jenseit, James T. Robinson, Kristian W. Pajtler, Till Milde, Natalie Jäger, Petra Fiesel, Ling Morgan, Sunita Sridhar, Nicole G. Coufal, Michael Levy, Denise Malicki, Charlotte Hobbs, Stephen Kingsmore, Shareef Nahas, Matija Snuderl, John Crawford, Robert J. Wechsler-Reya, Tom Belle Davidson, Jennifer Cotter, George Michaiel, Gudrun Fleischhack, Stefan Mundlos, Anthony Schmitt, Hannah Carter, Kulandaimanuvel Antony Michealraj, Sachin A. Kumar, Michael D. Taylor, Jeremy Rich, Frank Buchholz, Jill P. Mesirov, Stefan M. Pfister, Ferhat Ay, Jesse R. Dixon, Marcel Kool, Lukas Chavez
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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3Academic Journal
المؤلفون: Yan Ding, Mallory Owen, Jennie Le, Sergey Batalov, Kevin Chau, Yong Hyun Kwon, Lucita Van Der Kraan, Zaira Bezares-Orin, Zhanyang Zhu, Narayanan Veeraraghavan, Shareef Nahas, Matthew Bainbridge, Joe Gleeson, Rebecca J. Baer, Gretchen Bandoli, Christina Chambers, Stephen F. Kingsmore
المصدر: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-9 (2023)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-7944
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4Academic Journal
المؤلفون: Jennifer Friedman, Desiree E. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek E. I. Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson
المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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5Academic Journal
المؤلفون: Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur van denWijngaard, Jan F. C. Glatz, Stephane R. B. Heymans, Ingrid P. C. Krapels, Shareef Nahas, Han G. Brunner, Radek Szklarczyk
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
مصطلحات موضوعية: dilated cardiomyopathy, genetic modifier, genetics, sarcomere, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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6
المؤلفون: Jacob R. Greenmyer, Whitney S. Thompson, Stephanie Mavis, Sara Hassan, Jody Weckwerth, Charlotte Hobbs, Kiely James, Shareef Nahas, Paul Galardy, Christopher Collura
المصدر: Pediatric Blood & Cancer. 70
مصطلحات موضوعية: Oncology, Perforin, Pediatrics, Perinatology and Child Health, Infant, Newborn, Humans, Membrane Proteins, Hematology, Lymphohistiocytosis, Hemophagocytic
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7
المؤلفون: Xin Xu, Valentina Stanley, Jonathan Sebat, Xiaoxu Yang, Martin W. Breuss, Joseph G. Gleeson, Yan Ding, Beibei Cao, Jennifer McEvoy-Venneri, Renee D. George, An Nguyen, Lucitia Van Der Kraan, Sara A. Wirth, Guoliang Chai, Danny Antaki, Laurel L. Ball, Kiely N. James, Shareef Nahas
المصدر: Cell, vol 184, iss 18
Cellمصطلحات موضوعية: Male, Aging, Time Factors, Adolescent, Somatic cell, Offspring, 1.1 Normal biological development and functioning, autism spectrum disorder, Biology, Cellular level, Models, Biological, sperm, Medical and Health Sciences, General Biochemistry, Genetics and Molecular Biology, Article, Cohort Studies, Young Adult, transmission risk, Risk Factors, Models, Underpinning research, Genetics, Humans, 2.1 Biological and endogenous factors, Aetiology, Alleles, congenital disorders, Genetic diversity, Serial sampling, somatic, Mosaicism, Embryogenesis, Human Genome, mutational signature, Biological Sciences, Biological, Stem Cell Research, Sperm, Spermatozoa, de novo mutation, Clone Cells, Ejaculated sperm, Mutation, embryogenesis, Growth and Development, Generic health relevance, clonal mosaicism, Developmental Biology
وصف الملف: application/pdf
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8
المؤلفون: Lauge Farnaes, Kelly Watkins, David Dimmock, Jeffrey J. Gold, James C. Perry, Matthew N. Bainbridge, Nicole G. Coufal, Benjamin Briggs, Ami Doshi, Matthew R. Williams, Michele Feddock, Michelle M. Clark, Shareef Nahas, Elizabeth Ingulli, Stephen F. Kingsmore, Erica Sanford, Nathaly M. Sweeney, Shimul Chowdhury
المصدر: Pediatric Critical Care Medicine. 20:1007-1020
مصطلحات موضوعية: Whole genome sequencing, medicine.medical_specialty, Extramural, business.industry, MEDLINE, 030208 emergency & critical care medicine, Retrospective cohort study, Critical Care and Intensive Care Medicine, Icu admission, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Pediatrics, Perinatology and Child Health, medicine, Intensive care medicine, Genetic diagnosis, business
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9
المؤلفون: Anna-Kaisa Niemi, Kevin Hall, Meredith S. Wright, Mark Speziale, Louise Fraser, Jerica Lenberg, Shimul Chowdhury, Tim K McPhail, Sergey Batalov, Luca Van Der Kraan, Kevin K Chau, David Dimmock, Vicki S Thomson, Christian Hansen, Yan Ding, Mark Nespeca, Shyamal S Mehtalia, Sheldon Gilmer, Stephen F. Kingsmore, Mallory J Owen, Zhanyang Zhu, Gail Knight, Chris M Kunard, Charlotte A. Hobbs, Jacqueline Weir, John Reynders, Narayanan Veeraraghavan, Bryan R. Lajoie, Sebastien Lefebvre, Shareef Nahas, Thomas Defay
المصدر: N Engl J Med
مصطلحات موضوعية: Whole genome sequencing, Infantile encephalopathy, 2019-20 coronavirus outbreak, business.industry, Thiamine Metabolism, General Medicine, Bioinformatics, Genome, Article, Neurologic injury, X ray computed, Medicine, business, Genetic diagnosis
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10
المؤلفون: Narayanan Veeraraghavan, Michelle M. Clark, John J. Nigro, Charlotte A. Hobbs, Sara A. Caylor, David Dimmock, Nathaly M. Sweeney, Shareef Nahas, Yan Ding, Julie A. Cakici, Sergey Batalov, Stephen F. Kingsmore, Shimul Chowdhury
المصدر: NPJ Genomic Medicine
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)مصطلحات موضوعية: Whole genome sequencing, Heart disease, business.industry, MEDLINE, Computational biology, QH426-470, Health care economics, medicine.disease, Congenital heart defects, Genetics, medicine, Medicine, business, Author Correction, Molecular Biology, Medical genomics, Genetics (clinical), Resource utilization
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11
المؤلفون: Konstantin Okonechnikov, Aylin Camgöz, Donglim Esther Park, Owen Chapman, Jens-Martin Hübner, Anne Jenseit, Abhijit Chakraborty, Meghana Pagadala, Rosalind Bump, Sahaana Chandran, Katherina Kraft, Rocio Acuna Hidalgo, Derek Reid, Edwin F Juarez, James T Robinson, Kristian W Pajtler, Till Milde, Nicole Coufal, Michael Levy, Denise Malicki, Shareef Nahas, Matija Snuderl, John Crawford, Robert Wechsler-Reya, Stefan Mundlos, Anthony Schmitt, Hannah Carter, Kulandaimanuvel Antony Michealraj, Sachin A Kumar, Michael D Taylor, Jeremy Rich, Jill Mesirov, Stefan P Pfister, Ferhat Ay, Jesse Dixon, Marcel Kool, Lukas Chavez
المصدر: Neuro-Oncology. 24:i42-i42
مصطلحات موضوعية: Cancer Research, Oncology, Neurology (clinical)
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12
المؤلفون: Martin W, Breuss, Xiaoxu, Yang, Johannes C M, Schlachetzki, Danny, Antaki, Addison J, Lana, Xin, Xu, Changuk, Chung, Guoliang, Chai, Valentina, Stanley, Qiong, Song, Traci F, Newmeyer, An, Nguyen, Sydney, O'Brien, Marten A, Hoeksema, Beibei, Cao, Alexi, Nott, Jennifer, McEvoy-Venneri, Martina P, Pasillas, Scott T, Barton, Brett R, Copeland, Shareef, Nahas, Lucitia, Van Der Kraan, Yan, Ding, Christopher K, Glass, Soraya, Scuder
المصدر: Nature. 604(7907)
مصطلحات موضوعية: Mosaicism, Humans, Cell Lineage, Neocortex, Microglia, Cells, Cultured, Clone Cells
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13
المؤلفون: Katerina Kraft, Robert J. Wechsler-Reya, Abhijit Chakraborty, Jill P. Mesirov, Derek Reid, Michael D. Taylor, Jesse R. Dixon, Frank Buchholz, Rocio Acuna-Hidalgo, Hannah Carter, Kristian W. Pajtler, Sachin Kumar, John R. Crawford, James T. Robinson, Ferhat Ay, Edwin F. Juarez, Stefan Mundlos, Kulandaimanuvel Antony Michaelraj, Konstantin Okonechnikov, Lukas Chavez, Denise M. Malicki, Nicole G. Coufal, Jens-Martin Hübner, Jeremy N. Rich, Till Milde, Matija Snuderl, Stefan M. Pfister, Donglim Esther Park, Owen Chapman, Anthony P. Schmitt, Michael J. Levy, Aylin Camgoz, Sahaana Chandran, Marcel Kool, Rosalind Bump, Shareef Nahas, Monika Mauermann, Meghana Pagadala
مصطلحات موضوعية: Ependymoma, Text mining, business.industry, medicine, Computational biology, Biology, medicine.disease, business, Genome
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14
المؤلفون: Guoliang Chai, Kiely N. James, Yan Ding, Valentina Stanley, Shareef Nahas, Renee D. George, Martin W. Breuss, Beibei Cao, Laurel L. Ball, Xin Xu, Jennifer McEvoy-Venneri, Danny Antaki, Xiaoxu Yang, An Nguyen, Joseph G. Gleeson, Sara A. Wirth, Jonathan Sebat, Lucitia Van Der Kraan
مصطلحات موضوعية: Whole genome sequencing, Genetics, Haematopoiesis, Age groups, Transmission (medicine), Offspring, Disease, Biology, Sperm, Likely pathogenic
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15
المؤلفون: Eliezer M. Van Allen, Terence C. Wong, Jessica M. Rusert, Susanne Gröbner, Silvia K. Tacheva-Grigorova, Kristiina Vuori, Jill P. Mesirov, Robert J. Wechsler-Reya, Darren Finlay, Jonas Ecker, Denise M. Malicki, Shareef Nahas, David Dimmock, Brendan Reardon, James M. Olson, Till Milde, Sameerah Wahab, Matija Snuderl, Jonathan Serrano, Mari Kogiso, Huriye Seker-Cin, Patricia Baxter, Stefan M. Pfister, Michael J. Levy, Yoon Jae Cho, Jacob J. Henderson, Yuchen Du, James Jensen, Alexandra Garancher, Edwin F. Juarez, Michael E. Berens, Iris Reyes, Sebastian Brabetz, Xiao-Nan Li, Marcel Kool, Yoko T. Udaka, Pablo Tamayo, Lianne Q. Chau, John R. Crawford, Lin Qi
المصدر: Cancer Res
Cancer research, vol 80, iss 23مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, Cancer Research, Disease, Transcriptome, Mice, 0302 clinical medicine, Mice, Inbred NOD, Medicine, Precision Medicine, Child, Exome sequencing, Cancer, media_common, Pediatric, Tumor, Single Nucleotide, Genomics, Gene Expression Regulation, Neoplastic, Pharmaceutical Preparations, 5.1 Pharmaceuticals, 030220 oncology & carcinogenesis, Dactinomycin, Sarcoma, Development of treatments and therapeutic interventions, Biotechnology, Drug, Pediatric Research Initiative, medicine.medical_specialty, Pediatric Cancer, media_common.quotation_subject, Oncology and Carcinogenesis, Antineoplastic Agents, Polymorphism, Single Nucleotide, Article, Cell Line, 03 medical and health sciences, Rare Diseases, Internal medicine, Cell Line, Tumor, Exome Sequencing, Genetics, Animals, Humans, Genetic Testing, Oncology & Carcinogenesis, Polymorphism, Cerebellar Neoplasms, Medulloblastoma, Neoplastic, business.industry, Human Genome, Neurosciences, Precision medicine, medicine.disease, Xenograft Model Antitumor Assays, Brain Disorders, High-Throughput Screening Assays, Brain Cancer, Gene expression profiling, Orphan Drug, Good Health and Well Being, 030104 developmental biology, Gene Expression Regulation, Mutation, Inbred NOD, Generic health relevance, business
وصف الملف: application/pdf
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16
المؤلفون: Shimul Chowdhury, Richard H. Haas, Jennifer Friedman, Shira L. Robbins, Lynne M. Bird, Matthew J. Yousefzadeh, Shareef Nahas, David Dimmock, Mariah A. Witt, Laura J. Niedernhofer
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 7, Pp n/a-n/a (2021)
Molecular genetics & genomic medicine, vol 9, iss 7
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: 0301 basic medicine, ERCC6, Clinical Sciences, DNA repair, 030105 genetics & heredity, QH426-470, Biology, Genome, Clinical Reports, DNA sequencing, Cockayne syndrome, Medicinal and Biomolecular Chemistry, 03 medical and health sciences, Genetics, medicine, Humans, Child, Poly-ADP-Ribose Binding Proteins, Molecular Biology, Gene, Exome, Cells, Cultured, Genetics (clinical), Exome sequencing, Whole genome sequencing, Clinical Report, Whole Genome Sequencing, DNA Helicases, Fibroblasts, medicine.disease, Introns, DNA Repair Enzymes, 030104 developmental biology, whole-genome sequencing, Female, whole‐genome sequencing, cockayne syndrome, Nucleotide excision repair
وصف الملف: application/pdf
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17
المؤلفون: Qiong Song, Valentina Stanley, Lucitia Van Der Kraan, Johannes C. M. Schlachetzki, Yan Ding, Beibei Cao, Alexander Nott, Addison A Lana, Xin Xu, Xiaoxu Yang, Martin W. Breuss, An Nguyen, Martina P. Pasillas, Traci Fang Newmeyer, Christopher K. Glass, Jennifer McEvoy-Venneri, Danny Antaki, Shareef Nahas, Guoliang Chai, Joe G Gleeson
مصطلحات موضوعية: Cell type, Lineage (genetic), medicine.anatomical_structure, Neocortex, Somatic cell, Cerebral cortex, Evolutionary biology, medicine, Embryo, Human brain, Biology, Genome
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18
المؤلفون: David Dimmock, Cinnamon S. Bloss, Yan Ding, Kiely N. James, Katarzyna A. Ellsworth, Narayanan Veeraraghavan, Matthew N. Bainbridge, Amy S. Kimball, Jaime Barea, Christina Clarke, Jerica Lenberg, Shareef Nahas, Shimul Chowdhury, Erica Sanford, Patrick Mulrooney, Nathaly M. Sweeney, Sergey Batalov, Lauge Farnaes, Jennie Le, Cynthia Cheung, Mary Gaughran, Leila Schwanemann, Daniken Orendain, Maria Ortiz-Arechiga, Charlotte A. Hobbs, Marva Evans, Kelly Watkins, Marilyn C. Jones, Joshua J.A. Braun, Meredith S. Wright, Terence C. Wong, Carlos Diaz, Mari Tokita, Miguel Del Campo, Brian Lane, Stephen F. Kingsmore, Christian Hansen, Lisa Salz, Michelle M. Clark, Nicole G. Coufal, Casey Cohenmeyer, Joe Gleeson, Seema Rego, Kristen Wigby, Jennifer Friedman, Zaira Bezares, Mark Speziale, Sara A. Caylor, Lance Prince, Richard S. Song, Jose Honold, Albert Oriol, Catherine Yamada, Annette Feigenbaum, Lucitia Van Der Kraan, Sandra Leibel, Denise Suttner, Dana Mashburn, Laurel Moyer, Julie A. Cakici, Lynne M. Bird, Charles Sauer, Daeheon Oh, Iris Reyes, Gail Knight, Michele Feddock, Jeanne Carroll
المصدر: Am J Hum Genet
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Neonatal intensive care unit, Time Factors, Critical Illness, Clinical Decision-Making, Logistic regression, Article, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, law, 030225 pediatrics, Intensive care, Internal medicine, Intensive Care Units, Neonatal, Genetics, Medicine, Humans, Genetic Testing, Prospective Studies, Genetics (clinical), Pediatric intensive care unit, Whole Genome Sequencing, business.industry, Genome, Human, Genetic Diseases, Inborn, Infant, Newborn, Chromosome Mapping, Disease Management, Infant, Odds ratio, Distress, 030104 developmental biology, Logistic Models, Etiology, Female, sense organs, business
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19
المؤلفون: Shimul Chowdhury, David Dimmock, Nanda Ramchandar, Charlotte A. Hobbs, Yan Ding, Stephen F. Kingsmore, Kiely N. James, Shareef Nahas, Anna-Kaisa Niemi, Annette Feigenbaum, Wendy Benson
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: Research Report, Male, Resuscitation, medicine.medical_specialty, upper limb spasticity, Genotype, poor suck, Day of life, Clinical Decision-Making, Cyclic pyranopterin monophosphate, Disease, generalized tonic seizures, infantile encephalopathy, Polymorphism, Single Nucleotide, chemistry.chemical_compound, congenital horizontal nystagmus, Infant Mortality, medicine, Humans, Precision Medicine, Intensive care medicine, Molybdenum cofactor deficiency, Alleles, Metal Metabolism, Inborn Errors, Newborn screening, Whole Genome Sequencing, Neonatal encephalopathy, business.industry, Infant, Newborn, diffuse swelling of cerebral white matter, Disease Management, Infant, General Medicine, medicine.disease, Precision medicine, Phenotype, chemistry, hypouricemia, Disease Susceptibility, business, Delivery of Health Care
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20
المؤلفون: David Dimmock, Dorjee Tamang, Sarah White, Peter Schols, Michelle M. Clark, Zaira Bezares, Richard S. Song, Sandra Leibel, Denise Suttner, Jennie Le, Charlotte A. Hobbs, Casey Cohenmeyer, Katarzyna A. Ellsworth, Brian Lane, Amber Hildreth, Lauge Farnaes, Kelly Watkins, Kiely N. James, Terence C. Wong, Cinnamon S. Bloss, Nicole G. Coufal, Laura Puckett, Mari Tokita, Lance Prince, Amy S. Kimball, Narayanan Veeraraghavan, Shareef Nahas, Cyrielle Kint, Yan Ding, Paulina Ordonez, Jaime Barea, Erica Sanford, Kristen Wigby, Daniken Orendain, Maria Ortiz-Arechiga, Meredith S. Wright, Dana Mashburn, Sara A. Caylor, Nathaly M. Sweeney, Joshua J.A. Braun, Christina Clarke, Audra Wise, Lisa Salz, Charles Sauer, Jenni Friedman, George Chiang, Jerica Lenberg, Mark Speziale, Laurel Moyer, Michele Feddock, Jeanne Carroll, Patrick Mulrooney, Raymond Hovey, Stephen F. Kingsmore, Marva Evans, Sergey Batalov, Albert Oriol, Joe Gleeson, Jose Honold, Carlos Diaz, Mary Gaughran, Julie A. Cakici, Crystal Le, Catherine Yamada, Shimul Chowdhury, Gail Knight, Matthew N. Bainbridge, Lucitia Van Der Kraan, Daeheon Oh, Iris Reyes
المصدر: American journal of human genetics, vol 105, iss 4
مصطلحات موضوعية: 0301 basic medicine, ultra-rapid whole-genome sequencing, Pediatrics, medicine.medical_specialty, diagnosis, precision medicine, RCIGM Investigators, Clinical Trials and Supportive Activities, 030105 genetics & heredity, Genome, intensive care unit, Medical and Health Sciences, Article, law.invention, 03 medical and health sciences, Randomized controlled trial, law, genetic disease, Clinical Research, Exome Sequencing, medicine, Genetics, Humans, Genetic Testing, whole-exome sequencing, Genetics (clinical), Exome sequencing, Whole genome sequencing, Pediatric, Genetics & Heredity, Whole Genome Sequencing, business.industry, Singleton, Human Genome, Infant, Newborn, Infant, Biological Sciences, Precision medicine, Newborn, Intensive care unit, 030104 developmental biology, genomic medicine, Good Health and Well Being, whole-genome sequencing, Etiology, business
وصف الملف: application/pdf
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