المؤلفون: Schanze, Ina, Bunt, Jens, Lim, Jonathan WC, Schanze, Denny, Dean, Ryan J, Alders, Marielle, Blanchet, Patricia, Attié-Bitach, Tania, Berland, Siren, Boogert, Steven, Boppudi, Sangamitra, Bridges, Caitlin J, Cho, Megan T, Dobyns, William B, Donnai, Dian, Douglas, Jessica, Earl, Dawn L, Edwards, Timothy J, Faivre, Laurence, Fregeau, Brieana, Genevieve, David, Gérard, Marion, Gatinois, Vincent, Holder-Espinasse, Muriel, Huth, Samuel F, Izumi, Kosuke, Kerr, Bronwyn, Lacaze, Elodie, Lakeman, Phillis, Mahida, Sonal, Mirzaa, Ghayda M, Morgan, Sian M, Nowak, Catherine, Peeters, Hilde, Petit, Florence, Pilz, Daniela T, Puechberty, Jacques, Reinstein, Eyal, Rivière, Jean-Baptiste, Santani, Avni B, Schneider, Anouck, Sherr, Elliott H, Smith-Hicks, Constance, Wieland, Ilse, Zackai, Elaine, Zhao, Xiaonan, Gronostajski, Richard M, Zenker, Martin, Richards, Linda J

المصدر: American Journal of Human Genetics. 103(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Mental Health, Pediatric, Intellectual and Developmental Disabilities (IDD), Neurosciences, Rare Diseases, Behavioral and Social Science, Genetics, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Mental health, Neurological, Adolescent, Adult, Animals, Cerebral Cortex, Child, Child, Preschool, Codon, Nonsense, Cohort Studies, Corpus Callosum, Female, Haploinsufficiency, Humans, Intellectual Disability, Male, Megalencephaly, Mice, Mice, Knockout, NFI Transcription Factors, Polymorphism, Single Nucleotide, Young Adult, NFIB, agenesis of the corpus callosum, chromosome 9p22.3, chromosome 9p23, developmental delay, haploinsufficiency, intellectual disability, macrocephaly, megalencephaly, nuclear factor I, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7099p72x

المؤلفون: Oegema, Renske^Aff1, Barakat, Tahsin Stefan, Wilke, Martina, Stouffs, Katrien, Amrom, Dina^{Aff4, Aff5}, Aronica, Eleonora^{Aff6, Aff7}, Bahi-Buisson, Nadia, Conti, Valerio, Fry, Andrew E.^{Aff10, Aff11}, Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana, Said, Edith^{Aff14, Aff15}, Soler, Doriette^{Aff16, Aff17}, Valor, Luis M., Zaki, Maha S., Mirzaa, Ghayda^{Aff20, Aff21}, Dobyns, William B.^{Aff20, Aff21}, Reiner, Orly, Guerrini, Renzo, Pilz, Daniela T., Hehr, Ute, Leventer, Richard J., Jansen, Anna C., Mancini, Grazia M. S.^{Aff2, Aff26}, Di Donato, Nataliya^Aff27

المصدر: Nature Reviews Neurology. 16(11):618-635

المؤلفون: Romaniello, Romina, Arrigoni, Filippo, Fry, Andrew E., Bassi, Maria T., Rees, Mark I., Borgatti, Renato, Pilz, Daniela T., Cushion, Thomas D.

المصدر: In European Journal of Medical Genetics December 2018 61(12):744-754

المؤلفون: Mirzaa, Ghayda M, Parry, David A, Fry, Andrew E, Giamanco, Kristin A, Schwartzentruber, Jeremy, Vanstone, Megan, Logan, Clare V, Roberts, Nicola, Johnson, Colin A, Singh, Shawn, Kholmanskikh, Stanislav S, Adams, Carissa, Hodge, Rebecca D, Hevner, Robert F, Bonthron, David T, Braun, Kees PJ, Faivre, Laurence, Rivière, Jean-Baptiste, St-Onge, Judith, Gripp, Karen W, Mancini, Grazia MS, Pang, Ki, Sweeney, Elizabeth, van Esch, Hilde, Verbeek, Nienke, Wieczorek, Dagmar, Steinraths, Michelle, Majewski, Jacek, Boycott, Kym M, Pilz, Daniela T, Ross, M Elizabeth, Dobyns, William B, Sheridan, Eamonn G

المصدر: Nature Genetics. 46(5)

مصطلحات موضوعية: Pediatric, 2.1 Biological and endogenous factors, Aetiology, Abnormalities, Multiple, Animals, Base Sequence, Blotting, Western, Bromodeoxyuridine, Cyclin D2, Electroporation, Exome, Female, HEK293 Cells, Humans, Hydrocephalus, Immunohistochemistry, Malformations of Cortical Development, Megalencephaly, Mice, Microscopy, Fluorescence, Molecular Sequence Data, Mutagenesis, Site-Directed, Polydactyly, Sequence Analysis, DNA, Syndrome, FORGE Canada Consortium, Biological Sciences, Medical and Health Sciences, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6p05f4xp

المؤلفون: Nikkel, Sarah M, Dauber, Andrew, de Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J M, Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E, Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, da Cunha, Bruna Santos, Delaney, Louisa A, Destrée, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M C, Héron, Delphine, Hoischen, Alexander, Honey, Engela Magdalena, Hoefsloot, Lies H, Ibrahim, Jennifer, Jacob, Claire M, Kant, Sarina G, Kim, Chong Ae, Kirk, Edwin P, Knoers, Nine V A M, Lacombe, Didier, Lee, Chung, Lo, Ivan F M, Lucas, Luiza S, Mari, Francesca, Mericq, Veronica, Moilanen, Jukka S, Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T, Pope, Kate, Price, Susan, Renieri, Alessandra, Sá, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L, Simon, Marleen E H, Slavotinek, Anne, Temple, I Karen, van der Burgt, Ineke, de Vries, Bert B A, Weisfeld-Adams, James D, Whiteford, Margo L, Wierczorek, Dagmar, Wit, Jan M, Yee, Connie Fung On, Beaulieu, Chandree L, cpgdsconsortium@cheo.on.ca, White, Sue M, Bulman, Dennis E, Bongers, Ernie, Brunner, Han, Feingold, Murray, Boycott, Kym M

المصدر: Orphanet Journal of Rare Diseases. 8(1)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6r91w5r2

المؤلفون: Kharbanda, Mira, Pilz, Daniela T., Tomkins, Susan, Chandler, Kate, Saggar, Anand, Fryer, Alan, McKay, Victoria, Louro, Pedro, Smith, Jill Clayton, Burn, John, Kini, Usha, De Burca, Anna, FitzPatrick, David R., Kinning, Esther

المصدر: In European Journal of Medical Genetics February 2017 60(2):130-135

المؤلفون: Robin, Nathaniel H, Taylor, Clare J, McDonald‐McGinn, Donna M, Zackai, Elaine H, Bingham, Peter, Collins, Kevin J, Earl, Dawn, Gill, Deepak, Granata, Tiziana, Guerrini, Renzo, Katz, Naomi, Kimonis, Virginia, Lin, Jean‐Pierre, Lynch, David R, Mohammed, Shehla N, Massey, Roger F, McDonald, Marie, Rogers, R Curtis, Splitt, Miranda, Stevens, Cathy A, Tischkowitz, Marc D, Stoodley, Neil, Leventer, Richard J, Pilz, Daniela T, Dobyns, William B

المصدر: American Journal of Medical Genetics Part A, vol 140A. (22)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Intellectual and Developmental Disabilities (IDD), Clinical Research, Neurosciences, Pediatric, Rare Diseases, Brain Disorders, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Congenital, Cerebellum, Cerebral Cortex, Chromosome Deletion, Chromosomes, Human, Pair 22, Female, Humans, Magnetic Resonance Imaging, Male, Syndrome, Tomography, X-Ray Computed, Velopharyngeal Insufficiency, Genetics, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/26b750n0

المؤلفون: Leventer, Richard J., Jansen, Anna, Pilz, Daniela T.

المصدر: Brain. May 2010 133(5):1415-1427.

Peer Reviewed: Y

Page Count: 13

Descriptors: Age, Epilepsy, Mental Retardation, Seizures, Patients, Developmental Delays, Neurological Impairments, Correlation, Diagnostic Tests, Brain Hemisphere Functions, Genetics, Neurology, Referral, Identification, Gender Differences

المؤلفون: van Kogelenberg, Margriet, Clark, Alice R., Jenkins, Zandra, Morgan, Tim, Anandan, Ananda, Sawyer, Gregory M., Edwards, Matthew, Dudding, Tracy, Homfray, Tessa, Castle, Bruce, Tolmie, John, Stewart, Fiona, Kivuva, Emma, Pilz, Daniela T., Gabbett, Michael, Sutherland-Smith, Andrew J., Robertson, Stephen P.

المصدر: Journal of Molecular Medicine. July 2015 93(7):773-782

المؤلفون: Millar David S, Tysoe Carolyn, Lazarou Lazarus P, Pilz Daniela T, Mohammed Shehla, Anderson Katharine, Chuzhanova Nadia, Cooper David N, Butler Rachel

المصدر: Human Genomics, Vol 4, Iss 6, Pp 384-393 (2010)

مصطلحات موضوعية: lissencephaly, PAFAH1B1 gene, mitochondrial genome, insertion, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.humgenomics.com/content/4/6/384; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/8ded9511f4c84ab8a12f02bb7a3baade