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1دورية أكاديمية
المؤلفون: Amanda Openshaw, Rachel Lasher, Michelle Bosworth, Danielle LaGrave, Hiba Risheg, Bo Hong
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100572- (2023)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Daniel Reich, Amanda Openshaw, Michele Garcia, Inder Gadi, Madelena Martin, Hiba Risheg, Bo Hong
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100591- (2023)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Danielle LaGrave, Rachel Lasher, Michelle Bosworth, Amanda Openshaw, Katie Rudd, Erica Andersen
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100654- (2023)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Benjamin Hilton, Bekim Sadikovic, Alfredo Brusco, Giovanni Battista Ferrero, Barbara DuPont, Matthew Tedder, Raymond Louie, Nikhil Sahajpal, Erica Andersen, Zoe Lewis, Amanda Openshaw, Jennifer Kerkhof, Haley McConkey, Raissa Relator, Sadegheh Haghshenas, Jack Reilly, Kathleen Rooney
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100722- (2023)
وصف الملف: electronic resource
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5
المؤلفون: Alma Kuechler, Amanda Openshaw, Stephen P. Robertson, Siddharth Srivastava, Bo Hong, Leah R Fleming, Cheryl Dickerson, Lindsay C. Swanson, Kathryn Curry, Rami A. Ballout, Najla Al-Sweel, Myra J. Wick, Nuria C. Bramswig, Ayman W. El-Hattab, Erica F. Andersen
المصدر: Hum Mutat
مصطلحات موضوعية: Male, Proband, Medizin, Prenatal diagnosis, Biology, Article, MECP2, 03 medical and health sciences, Intellectual Disability, Prenatal Diagnosis, Chromosome Duplication, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, 030305 genetics & heredity, Breakpoint, Infant, Chromosome, Genetic Diseases, X-Linked, Syndrome, Middle Aged, medicine.disease, Child, Preschool, Autism, Female
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6
المؤلفون: Øyvind L. Busk, Kimberley Bradbury, Arjan Bouman, Philippe M. Campeau, Lynne M. Bird, Cornelia Kraus, Colleen Carlston, Rong Mao, Juliette Piard, Laurence Faivre, Amanda Openshaw, Catherine Ward Melver, Mohnish Suri, Christiane Zweier, François Guillemot, Rolph Pfundt, Janice C. Palumbos, Parthiv Haldipur, Jane A. Hurst, Kimberly McDonald, Margaux Serey-Gaut, Luitgard Graul-Neumann, Karen J. Low, Jenny Carmichael, Patrick Ferrerira, Birgit Elisabeth Kristiansen, Ange-Line Bruel, Constance Motter, Andrea Accogli, Darrah N. Haffner, Suhair Hanna, Ruta Marcinkute, Angela Peron, Marcella Zollino, Sofia Maia, James Lespinasse, Claire E. Turner, Sally Ann Lynch, Richard E. Person, Valeria Capra, Kimberly A. Aldinger, Constance Smith-Hicks, Gyri Aasland Gradek, Ingrid M. Wentzensen, Megha Desai, Manuela Morleo, Aditi Shah Parikh, Marcello Scala, Cristina Dias, Gunnar Houge, Telethon Undiagnosed Disease Program, Anne Slavotinek, Roberta Battini, Mary J. Green, Anna Chassevent, Tara Montgomery, David Viskochil, Tatiana Tvrdik, Dawn L. Earl, Karin Weiss, Felice D'Arco, William B. Dobyns, Ping Yee Billie Au, Daniah Beleford, Erica F. Andersen, Bert B.A. de Vries, Jill Clayton-Smith, Christophe Philippe, Michael J. Bamshad
مصطلحات موضوعية: business.industry, Postnatal microcephaly, Microdeletion syndrome, medicine.disease, Bioinformatics, Hypotonia, Developmental disorder, Autism spectrum disorder, Intellectual disability, Fetal hemoglobin, medicine, Missense mutation, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c55e8461adabd1f64e5851c2ad0e0c90
https://doi.org/10.1101/2021.09.06.21262776 -
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المصدر: Cytogenetic and Genome Research. 156:191-196
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Microcephaly, Cornelia de Lange Syndrome, Hearing loss, Genetic disorder, 030105 genetics & heredity, Biology, medicine.disease, 03 medical and health sciences, Genetics, medicine, SNP, Medical history, Global developmental delay, medicine.symptom, Molecular Biology, Coffin–Siris syndrome, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6f2a14ba6f4d9ee16f8e64ab4779117a
https://doi.org/10.1159/000494871 -
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المؤلفون: Jose A. Camacho, Sarah L. Dugan, Emanuele Panza, Amanda Openshaw, Reha M. Toydemir, Lorenzo D. Botto
المساهمون: Dugan, Sarah L., Panza, Emanuele, Openshaw, Amanda, Botto, Lorenzo D., Camacho, Jose A., Toydemir, Reha M.
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Microarray, Hearing loss, Chromosome Disorders, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, Short stature, multiple congenital anomalie, 03 medical and health sciences, 9q31 deletion, Genetic, Genetics, medicine, Humans, Genetic Predisposition to Disease, Gene, Alleles, Genetic Association Studies, Genetics (clinical), Comparative Genomic Hybridization, SNP microarray, Breakpoint, Facies, Infant, Chromosome, Syndrome, medicine.disease, developmental delay, short stature, Phenotype, Female, Chromosome Deletion, medicine.symptom, Chromosomes, Human, Pair 9, Ventriculomegaly, SNP array
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d6b3fbab4f78cbf93a7b7c70c432c1c
http://hdl.handle.net/11585/700589 -
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المؤلفون: Tatiana Tvrdik, Danielle LaGrave, Erin E. Baldwin, Amanda Openshaw, Christine E. Miller, Patti Krautscheid, Kim Hart
المصدر: American Journal of Medical Genetics Part A. 164:1094-1101
مصطلحات موضوعية: Counseling, medicine.medical_specialty, Test order, Quality Assurance, Health Care, Molecular genetic test, business.industry, Genetic counseling, Genetic Counseling, Health Care Costs, Reference laboratory, Workflow, Test (assessment), Health care, Genetics, medicine, Humans, Review process, Medical physics, Genetic Testing, Family history, Laboratories, business, Genetics (clinical)
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المؤلفون: Janice Zunich, Bo Hong, Reha M. Toydemir, Amanda Openshaw
المصدر: American journal of medical genetics. Part A. 173(6)
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Nasal bridge, medicine.medical_treatment, Chromosome Disorders, Trisomy, 03 medical and health sciences, 0302 clinical medicine, Chromosome analysis, Genetics, medicine, Humans, Genetics (clinical), In Situ Hybridization, Fluorescence, Comparative Genomic Hybridization, 030219 obstetrics & reproductive medicine, In vitro fertilisation, Chromosomes, Human, Pair 12, medicine.diagnostic_test, business.industry, Mosaicism, Infant, Newborn, Infant, Karyotype, medicine.disease, Peripheral blood, 030104 developmental biology, Palpebral fissure, Karyotyping, Female, business, Fluorescence in situ hybridization