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1دورية أكاديمية
المؤلفون: Atteeq Rehman, Amanda Thomas-Wilson, Frederic Tran Mau-Them, Leandra Tolusso, Avinash Abyankar, Saurav Guha, Volkan Okur, Vanessa Felice, Robert Hopkin, Ashley Wilson, Ted Han, Qiaoning Guan, Jessica Giordano, Anne-Claire Bréhin, Ronald Wapner, Vaidehi Jobanputra
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101672- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424008185Test; https://doaj.org/toc/2949-7744Test
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2دورية أكاديمية
المؤلفون: Xiaolin Hu, Elizabeth K. Baker, Jodie Johnson, Stephanie Balow, Loren D. M. Pena, Laura K. Conlin, Qiaoning Guan, Teresa A. Smolarek
المصدر: Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-6 (2022)
مصطلحات موضوعية: Mitotic rescue, Unbalanced translocation, SNP microarray, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8166Test
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3دورية أكاديمية
المؤلفون: David B Berry, Qiaoning Guan, James Hose, Suraiya Haroon, Marinella Gebbia, Lawrence E Heisler, Corey Nislow, Guri Giaever, Audrey P Gasch
المصدر: PLoS Genetics, Vol 7, Iss 11, p e1002353 (2011)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3213159?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test
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4دورية أكاديمية
المؤلفون: Qiaoning Guan, Wei Zheng, Shijie Tang, Xiaosong Liu, Robert A Zinkel, Kam-Wah Tsui, Brian S Yandell, Michael R Culbertson
المصدر: PLoS Genetics, Vol 2, Iss 11, p e203 (2006)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC1657058?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test
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5
المؤلفون: Jill R. Murrell, Addie May I. Nesbitt, Samuel W. Baker, Kieran B. Pechter, Jorune Balciuniene, Xiaonan Zhao, Elizabeth H. Denenberg, Elizabeth T. DeChene, Chao Wu, Pushkala Jayaraman, Kajia Cao, Michael Gonzalez, Marcella Devoto, Alessandro Testori, John D. Monos, Matthew C. Dulik, Laura K. Conlin, Minjie Luo, Kristin McDonald Gibson, Qiaoning Guan, Mahdi Sarmady, Elizabeth Bhoj, Ingo Helbig, Elaine H. Zackai, Emma C. Bedoukian, Alisha Wilkens, Jennifer Tarpinian, Kosuke Izumi, Cara M. Skraban, Matthew A. Deardorff, Livija Medne, Ian D. Krantz, Bryan L. Krock, Avni B. Santani
المصدر: The Journal of Molecular Diagnostics. 24:274-286
مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6d49583b2fd1c4436346a76a80fce3d8Test
https://doi.org/10.1016/j.jmoldx.2021.12.002Test -
6
المؤلفون: Lisa Dyer, Jie Liu, Jennifer Glass, Stephanie A. Balow, Pamela A. Rathbun, Qiaoning Guan, Xiaoli Du, Wenying Zhang, Lauren C Walters-Sen, D. Brian Dawson, Teresa A. Smolarek, Yaning Wu
المصدر: Journal of Autism and Developmental Disorders. 52:4828-4842
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, DNA Copy Number Variations, Autism Spectrum Disorder, Fragile X Mental Retardation Protein, Developmental and Educational Psychology, medicine, Humans, Genetic Testing, Copy-number variation, Medical diagnosis, Allele, Child, Retrospective Studies, Genetic testing, medicine.diagnostic_test, Retrospective cohort study, medicine.disease, FMR1, Hospitals, Neurodevelopmental Disorders, Fragile X Syndrome, Mutation, Autism, Female, Trinucleotide Repeat Expansion, Psychology, SNP array
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0da21b1a41ddea2a80cd4826854372e2Test
https://doi.org/10.1007/s10803-021-05337-6Test -
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المؤلفون: Loren D M Pena, Sofia Saenz Ayala, Lisa Dyer, Xiaolin Hu, Qiaoning Guan
المصدر: American Journal of Medical Genetics Part A. 185:1864-1869
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Heart disease, medicine.diagnostic_test, business.industry, Macrocephaly, Aneuploidy, 030105 genetics & heredity, medicine.disease, 03 medical and health sciences, 030104 developmental biology, Genetics, medicine, Chromosome abnormality, SNP, medicine.symptom, Trisomy, business, Genetics (clinical), SNP array, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b93dba4739e0b93b6d74a8b3c10dc797Test
https://doi.org/10.1002/ajmg.a.62166Test -
8
المؤلفون: Casey Brewer, Kristen Sund, Xinjian Wang, Jie Liu, Qiaoning Guan, Wenying Zhang, Brian Dawson, Yaning Wu
المصدر: Cancer Genetics. :19
مصطلحات موضوعية: Cancer Research, Genetics, Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2fdfa4f767b3ee82f82b3577116840d7Test
https://doi.org/10.1016/j.cancergen.2022.10.061Test -
9
المؤلفون: Marissa Vawter-Lee, Robert J. Hopkin, Leandra K. Tolusso, Stefanie Riddle, Maria A. Calvo-Garcia, Vivian Hwa, Nicki Smith, Howard M. Saal, Qiaoning Guan, Mounira Habli, Karin S. Bierbrauer, Katherine Abell
المصدر: Birth Defects Research. 112:1733-1737
مصطلحات موضوعية: 0301 basic medicine, Embryology, Pathology, medicine.medical_specialty, Health, Toxicology and Mutagenesis, AKT1, Prenatal diagnosis, 030105 genetics & heredity, Toxicology, medicine.disease_cause, Proteus Syndrome, 03 medical and health sciences, symbols.namesake, Pregnancy, Prenatal Diagnosis, medicine, Humans, Megalencephaly, Exome sequencing, Sanger sequencing, Mutation, business.industry, medicine.disease, Phenotype, Proteus syndrome, 030104 developmental biology, Pediatrics, Perinatology and Child Health, symbols, Female, business, Proto-Oncogene Proteins c-akt, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a26eeab41cfdbec951c462d1e01bcebTest
https://doi.org/10.1002/bdr2.1801Test -
10
المؤلفون: Jill R, Murrell, Addie May I, Nesbitt, Samuel W, Baker, Kieran B, Pechter, Jorune, Balciuniene, Xiaonan, Zhao, Elizabeth H, Denenberg, Elizabeth T, DeChene, Chao, Wu, Pushkala, Jayaraman, Kajia, Cao, Michael, Gonzalez, Marcella, Devoto, Alessandro, Testori, John D, Monos, Matthew C, Dulik, Laura K, Conlin, Minjie, Luo, Kristin, McDonald Gibson, Qiaoning, Guan, Mahdi, Sarmady, Elizabeth, Bhoj, Ingo, Helbig, Elaine H, Zackai, Emma C, Bedoukian, Alisha, Wilkens, Jennifer, Tarpinian, Kosuke, Izumi, Cara M, Skraban, Matthew A, Deardorff, Livija, Medne, Ian D, Krantz, Bryan L, Krock, Avni B, Santani
مصطلحات موضوعية: Rare Diseases, Mutation, Exome Sequencing, Humans, Exome, clinical exome sequencing, Pathology, Molecular, Child, Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d01581239134e015d1fc0a4434842a48Test
http://hdl.handle.net/11573/1631215Test