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

المؤلفون: Marni J. Falk, Wen-Hann Tan, Romano Tenconi, Uffe Birk Jensen, Stéphane Decramer, Susan M. White, Lisa A. Schimmenti, Carolyn Wilson-Brackett, Marie Pierre Lavocat, Elisa Benetti, Gabriela Peretz-Amit, Nancy Rodig, Joanne Dixon, Dina J. Zand, Philippe Vanhille, Rajesh Kumar, Corinne Antignac, Régen Drouin, Holly Feret, David W. Stockton, Berta Warman, Gerard C. P. Schaafsma, Abhay Vats, Lawrence R. Shoemaker, Hiep T. Nguyen, David Mowat, Michael R. Eccles, Laurence Heidet, Matthew Bower, John A. Sayer, Francesco Benedicenti, Emily Place, Laura S. Martin, Richard G. Weleber, Gil Binenbaum, Ann Salerno, Xinjing Wang, Sujatha Sastry, Eric A. Pierce, Robert Gise, Kisha D. Johnson, Vincent Morinière, Pierre Cochat, Luisa Murer, Rémi Salomon, Alasdair G. W. Hunter, Tadashi Sato, Judith Allanson

المصدر: Human Mutation
Human Mutation; Vol 33
Bower, M, Salomon, R, Allanson, J, Antignac, C, Benedicenti, F, Benetti, E, Binenbaum, G, Jensen, U B, Cochat, P, DeCramer, S, Dixon, J, Drouin, R, Falk, M J, Feret, H, Gise, R, Hunter, A, Johnson, K, Kumar, R, Lavocat, M P, Martin, L, Morinière, V, Mowat, D, Murer, L, Nguyen, H T, Peretz-Amit, G, Pierce, E, Place, E, Rodig, N, Salerno, A, Sastry, S, Sato, T, Sayer, J A, Schaafsma, G C P, Shoemaker, L, Stockton, D W, Tan, W-H, Tenconi, R, Vanhille, P, Vats, A, Wang, X, Warman, B, Weleber, R G, White, S M, Wilson-Brackett, C, Zand, D J, Eccles, M, Schimmenti, L A & Heidet, L 2012, ' Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database ', Human Mutation, vol. 33, no. 3, pp. 457-66 . https://doi.org/10.1002/humu.22020Test

مصطلحات موضوعية: Papillorenal syndrome, medicine.medical_specialty, Hearing loss, Genetic counseling, 030232 urology & nephrology, Biology, computer.software_genre, 03 medical and health sciences, 0302 clinical medicine, Databases, Genetic, Genetics, medicine, Animals, Humans, Renal Insufficiency, Genetics (clinical), 030304 developmental biology, Vesico-Ureteral Reflux, 0303 health sciences, Coloboma, Database, PAX2 Transcription Factor, medicine.disease, Renal hypoplasia, Hypoplasia, 3. Good health, Medical genetics, medicine.symptom, Leiden Open Variation Database, computer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16ee7cb7b26fec7ef7d4216b0a9792b3Test

المؤلفون: Kathleen A. Leppig, Rhonda E. Schnur, Robert Roger Lebel, Santhosh Girirajan, Kisha D. Johnson, Rosemarie Smith, Brad Angle, Robyn A. Filipink, Susie Ball, Dmitriy Niyazov, Luis F. Escobar, J. Edward Spence, Bradley P. Coe, Marjan M. Nezarati, Evan E. Eichler, Wendy S. Meschino, Jill A. Rosenfeld, Juliann Mcconnell, Salmo Raskin, Campbell K. Brasington, Lisa G. Shaffer, Sumit Parikh, Neil R. Friedman, Gordon C. Gowans, Natasha Shur, Dima El-Khechen, Carol L. Clericuzio, Amy Goldstein, Erika Aberg, Donna M. Martin, Laura S. Martin, David W. Stockton, Alexander Asamoah, Lynette S. Penney, Heidi Thiese, Blake C. Ballif, Erin P. Carmany, Kelly E. Jackson, Kiana Siefkas, Judith A. Martin, Marianne McGuire

المصدر: The New England journal of medicine. 367(14)

مصطلحات موضوعية: Male, DNA Copy Number Variations, Developmental Disabilities, Genomics, Biology, Congenital Abnormalities, Genetic Heterogeneity, Sex Factors, Intellectual Disability, Genotype, Humans, Copy-number variation, Genetic variability, Autistic Disorder, Child, Oligonucleotide Array Sequence Analysis, Genetics, Comparative Genomic Hybridization, Genetic heterogeneity, Genome, Human, General Medicine, Phenotype, Human genome, Female, Common disease-common variant, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b21729eea5c4826cceb2f112f71d6a2Test
https://pubmed.ncbi.nlm.nih.gov/22970918Test

المؤلفون: Kim M. Keppler-Noreuil, Leslie G. Biesecker, John M. Graham, Jennifer J. Johnston, Karina Acrich, Ingrid M. Wentzensen, Kisha D. Johnson, Julie C. Sapp, Karen L. David

المصدر: Human Genome Variation

مصطلحات موضوعية: Genetics, business.industry, Oral facial digital, medicine.disease, Biochemistry, Joubert syndrome, eye diseases, Ciliopathy, Data Report, Medicine, In patient, business, Molecular Biology, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04eccbf944e67ff9dffd3921038df537Test
http://europepmc.org/articles/PMC4785546Test