المؤلفون: Dowsett, Leah, Porras, Antonio R, Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow‐Keong, Leon, Eyby, Girisha, Katta M, Shukla, Anju, Nayak, Shalini S, Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D, Dissanayake, Vajira HW, Ferreira, Carlos R, Kisling, Monisha S, Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo‐Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti‐Ferreira, Danilo, Stevenson, Roger E, Prijoles, Eloise J, Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hisama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D, Bird, Lynne, Masser‐Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane‐Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Gupta, Neerja, Kabra, Madhulika, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, Krantz, Ian D

المصدر: American Journal of Medical Genetics Part A. 179(2)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Rare Diseases, Clinical Research, Intellectual and Developmental Disabilities (IDD), Pediatric, Neurosciences, Congenital, Abnormalities, Multiple, Adolescent, Adult, Cell Cycle Proteins, Child, Child, Preschool, Chondroitin Sulfate Proteoglycans, Chromosomal Proteins, Non-Histone, De Lange Syndrome, Face, Female, Humans, Image Processing, Computer-Assisted, Infant, Infant, Newborn, Intellectual Disability, Male, Mutation, Phenotype, Racial Groups, Young Adult, CdLS, Cornelia de Lange syndrome, diverse populations, facial analysis technology, NIPBL, underrepresented minorities, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6w35196fTest

المؤلفون: Bayat, Allan, Knaus, Alexej, Pendziwiat, Manuela, Afenjar, Alexandra, Barakat, Tahsin Stefan, Bosch, Friedrich, Callewaert, Bert, Calvas, Patrick, Ceulemans, Berten, Chassaing, Nicolas, Depienne, Christel, Endziniene, Milda, Ferreira, Carlos R, Moura de Souza, Carolina Fischinger, Freihuber, Cécile, Ganesan, Shiva, Gataullina, Svetlana, Guerrini, Renzo, Guerrot, Anne-Marie, Hansen, Lars, Jezela-Stanek, Aleksandra, Karsenty, Caroline, Kievit, Anneke, Kooy, Frank R, Korff, Christian, Kragh Hansen, Johanne, Larsen, Martin, Layet, Valérie, Lesca, Gaetan, McBride, Kim L, Meuwissen, Marije, Mignot, Cyril, Montomoli, Martino, Moore, Hannah, Naudion, Sophie, Nava, Caroline, Nougues, Marie-Christine, Parrini, Elena, Pastore, Matthew, Schelhaas, Jurgen H, Skinner, Steven, Szczałuba, Krzysztoł, Thomas, Ashley, Thomassen, Mads, Tranebjaerg, Lisbeth, van Slegtenhorst, Marjon, Wolfe, Lynne A, Lal, Dennis, Gardella, Elena, Bomme Ousager, Lilian, Brünger, Tobias, Helbig, Ingo, Krawitz, Peter, Møller, Rikke S

المصدر: ISSN: 0013-9580 ; Epilepsia, vol. 61, no. 6 (2020) p. 1142-1155.

مصطلحات موضوعية: info:eu-repo/classification/ddc/618, Adult, Amino Acid Sequence, Child, Cohort Studies, Electroencephalography/methods, Facies, Genetic Variation/genetics, Hernia, Diaphragmatic/diagnostic imaging/genetics/physiopathology, Humans, Infant, Newborn, Limb Deformities, Congenital/diagnostic imaging/genetics/physiopathology, Magnetic Resonance Imaging/methods, Male, Membrane Proteins/genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32452540; https://archive-ouverte.unige.ch/unige:157600Test; unige:157600

الإتاحة: https://doi.org/10.1111/epi.16545Test
https://archive-ouverte.unige.ch/unige:157600Test

المؤلفون: Xiao, Changrui, Astiazaran-Symonds, Esteban, Basu, Shrabani, Kisling, Monisha, Scaglia, Fernando, Chapman, Kimberly A, Wang, Yudong, Vockley, Jerry, Ferreira, Carlos R

المصدر: Pediatrics Faculty Publications

مصطلحات موضوعية: Acyl-CoA Dehydrogenase, Long-Chain, Adult, Age of Onset, Ataxia, Child, Electron-Transferring Flavoproteins, Energy Metabolism, Humans, Iron-Sulfur Proteins, Male, Mitochondria, Mitochondrial Diseases, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Muscle Weakness, Oxidoreductases Acting on CH-NH Group Donors, Ubiquinone, Young Adult, Pediatrics

العلاقة: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/6352Test; http://dx.doi.org/10.1002/ajmg.a.61786Test

الإتاحة: https://doi.org/10.1002/ajmg.a.61786Test
https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/6352Test