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1
المؤلفون: Carlos Ferreira, Tommy Hu, Monisha S. Kisling, Holly Dubbs, Vorasuk Shotelersuk, Lynne M. Bird, Danilo Moretti-Ferreira, Kisha D. Johnson, Kate Clarkson, Paul W.K. Wong, Carol A. Crowe, André Mégarbané, Paul Kruszka, Shubha R. Phadke, Ambroise Wonkam, Victoria Mok Siu, Nirmala D. Sirisena, David B. Everman, Ian D. Krantz, Marie T. McDonald, Elizabeth Roeder, Eyby Leon, Usha Pinakin Dave, E.V. Badoe, Antonie D. Kline, Katta M. Girisha, Leah Dowsett, Maximilian Muenke, Fuki M. Hisama, Kwame Anyane-Yeoba, Antonio R. Porras, Cedrik Tekendo-Ngongang, Meow-Keong Thong, Naoki Hamajima, Pranoot Tanpaiboon, Annette Uwineza, Brandon Davis, Sarah E. Raible, Shalini S. Nayak, Maninder Kaur, Vajira H. W. Dissanayake, Leticia Cassimiro Batista, Jessica Worthington, Matthew A. Deardorff, Eloise J. Prijoles, Virginia Kimonis, Louanne Hudgins, Anju Shukla, Roger E. Stevenson, Karen Fieggen, Greta Gillies, Laird G. Jackson, Leon Mutesa, Engela Honey, Zornitza Stark, Ann Ades, Sulgana Saitta, Robin D. Clark, Marius George Linguraru, Marshall L. Summar, Laurie A. Demmer, Diane Masser-Frye, Patrick Willems, Emanuela Salzano, Stavit A. Shalev
المصدر: American Journal of Medical Genetics Part A. 179:150-158
مصطلحات موضوعية: Adult, Male, Hypertrichosis, Microcephaly, medicine.medical_specialty, Cornelia de Lange Syndrome, Adolescent, Chromosomal Proteins, Non-Histone, Cell Cycle Proteins, Article, Young Adult, De Lange Syndrome, Intellectual Disability, Intellectual disability, Image Processing, Computer-Assisted, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Genetics (clinical), business.industry, Racial Groups, Infant, Newborn, Long philtrum, Infant, NIPBL, medicine.disease, Dermatology, Phenotype, medicine.anatomical_structure, Chondroitin Sulfate Proteoglycans, Child, Preschool, Face, Mutation, Anteverted nares, Upper limb, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ccbf12bd40a1dec434611422057ad4dTest
https://doi.org/10.1002/ajmg.a.61033Test -
2
المؤلفون: Leslie G. Biesecker, William J. Rhead, Jennifer J. Johnston, Samantha A. Schrier Vergano, John M. Graham, Nancy Kramer, Bianca Russell, Benjamin M. Helm, Rachel Harrison, Amy Dobson, L. Kate Clarkson, Avi Z. Rosenberg, Catherine A. Brownstein, Angela Pickart, Wen-Hann Tan
المصدر: American Journal of Medical Genetics Part A. 167:2122-2131
مصطلحات موضوعية: Male, Hypertrichosis, Pediatrics, medicine.medical_specialty, Microcephaly, Wilms Tumor, Article, Craniosynostoses, Intellectual Disability, Internal medicine, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Child, Genetics (clinical), business.industry, Infant, Wilms' tumor, medicine.disease, Repressor Proteins, Endocrinology, Child, Preschool, Bone marrow neoplasm, Mutation, Failure to thrive, Female, Ulnar deviation, medicine.symptom, Bone Marrow Neoplasms, Bohring–Opitz syndrome, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea18a9922c70549e9aab551ac79bdd1cTest
https://doi.org/10.1002/ajmg.a.37131Test -
3
المؤلفون: M. Gisele Matheus, L. Kate Clarkson, Angie W. Lichty, Yuri A. Zarate, Kristen J. Champion, Kenton R. Holden
المصدر: Journal of Child Neurology. 29:NP13-NP17
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Tomography Scanners, X-Ray Computed, Brain vasculature, External hydrocephalus, medicine.disease_cause, Magnetic resonance angiography, Neurodevelopmental disorder, Germline mutation, medicine, Humans, Child, skin and connective tissue diseases, Computed tomography angiography, Mutation, medicine.diagnostic_test, business.industry, Noonan Syndrome, Brain, medicine.disease, Magnetic Resonance Imaging, Cerebrovascular Disorders, Pediatrics, Perinatology and Child Health, Noonan syndrome, raf Kinases, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e2c01b08d5ad24cbe76a6d3a1d159b9Test
https://doi.org/10.1177/0883073813492384Test -
4دورية أكاديمية
المؤلفون: Russell, Bianca, Johnston, Jennifer J., Biesecker, Leslie G., Kramer, Nancy, Pickart, Angela, Rhead, William, Tan, Wen‐Hann, Brownstein, Catherine A., Kate Clarkson, L., Dobson, Amy, Rosenberg, Avi Z., Vergano, Samantha A. Schrier, Helm, Benjamin M., Harrison, Rachel E., Graham, John M.
المساهمون: NIH
المصدر: American Journal of Medical Genetics Part A ; volume 167, issue 9, page 2122-2131 ; ISSN 1552-4825 1552-4833
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5
المؤلفون: Michael J. Lyons, Frank O. Bartel, Barbara R. DuPont, Alka Dwivedi, Neena L. Champaigne, R. Curtis Rogers, Angie W. Lichty, Steven A. Skinner, David B. Everman, M. Allison Bellomo, Yuri A. Zarate, Barbara C. Gordon, L. Kate Clarkson, Joseph S. Geer, Robert A. Saul, Roger E. Stevenson, Richard J. Schroer, Sara S. Cathey
المصدر: American journal of medical genetics. Part A. (1)
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Developmental Disabilities, Young Adult, Genes, X-Linked, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Copy-number variation, Family history, Autistic Disorder, Child, Genetics (clinical), X chromosome, Oligonucleotide Array Sequence Analysis, Retrospective Studies, Chromosomes, Human, X, business.industry, Infant, Reproducibility of Results, Retrospective cohort study, medicine.disease, Child, Preschool, Autism, Female, Abnormality, business, Neurocognitive
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04d055ec99e68bf520ea900cec644637Test
https://pubmed.ncbi.nlm.nih.gov/23208842Test