المؤلفون: Variants, Commission on Novel Technologies for Neurodevelopmental Copy Number, Buttermore, Elizabeth, Chamberlain, Stormy, Cody, Jannine, Costain, Gregory, Dang, Louis, DeWoody, Andrew, DeWoody, Yssa, Dies, Kira, Eichler, Evan, Girirajan, Santhosh, Gramm, Marie, Halladay, Alycia, Lal, Dennis, Lalli, Matthew, Levy, Tess, Logsdon, Glennis, Lowenstein, Daniel, Mefford, Heather, Mulle, Jennifer, Muotri, Alysson, Murphy, Melissa, Palma, Eduardo Perez, Pinter, Stefan, Pollak, Rebecca, Purcell, Ryan, Samaco, Rodney, Shah, Bina, Singh, Karun, So, Joyce, Sundberg, Maria, Veeraragavan, Surabi, Vogel-Farley, Vanessa, Wynshaw-Boris, Anthony

المصدر: American Journal of Human Genetics. 109(8)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Intellectual and Developmental Disabilities (IDD), Neurosciences, Brain Disorders, DNA Copy Number Variations, Genome, Humans, Neurodevelopmental Disorders, Patient Advocacy, Phenotype, Commission on Novel Technologies for Neurodevelopmental Copy Number Variants, CNVs, biobank, community engagement, copy-number variants, genomic disorders, iPSCs, inclusion, infrastructure, long-read sequencing, neurodevelopment, neurological, patient centered, patient led, structural variants, systematic phenotyping, team science, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3tc3h13fTest

المؤلفون: Larson, Catherine Cody, O'Donnell, Louise, Soileau, Bridgette, Van Riper, Marcia, Stark, Debra, Hale, Daniel E., Cody, Jannine D.

المصدر: School of Medicine Publications and Presentations

مصطلحات موضوعية: chromosome 18, sibling relationships, special needs siblings, Medicine and Health Sciences

العلاقة: https://scholarworks.utrgv.edu/som_pub/1397Test; https://onlinelibrary.wiley.com/share/PUI4BHRYX8JJUUAGSVZG?target=10.1002/jgc4.1823Test

الإتاحة: https://doi.org/10.1002/jgc4.1823Test
https://scholarworks.utrgv.edu/som_pub/1397Test
https://onlinelibrary.wiley.com/share/PUI4BHRYX8JJUUAGSVZG?target=10.1002/jgc4.1823Test

المؤلفون: Carey, John, Cody, Jannine, Mehl, Justin, Gelfond, Jonathan

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100167 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2023.100167Test
https://api.elsevier.com/content/article/PII:S294977442300167X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S294977442300167X?httpAccept=text/plainTest

المؤلفون: Mehl, Justin M., Gelfond, Jonathan, Carey, John C., Cody, Jannine D.

المصدر: American Journal of Medical Genetics. Part A; Feb2024, Vol. 194 Issue 2, p279-287, 9p

المؤلفون: Buttermore, Elizabeth, Chamberlain, Stormy, Cody, Jannine, Costain, Gregory, Dang, Louis, DeWoody, Andrew, DeWoody, Yssa, Dies, Kira, Eichler, Evan, Girirajan, Santhosh, Gramm, Marie, Halladay, Alycia, Lal, Dennis, Lalli, Matthew, Levy, Tess, Logsdon, Glennis, Lowenstein, Daniel, Mefford, Heather, Mulle, Jennifer, Muotri, Alysson, Murphy, Melissa, Perez Palma, Eduardo, Pinter, Stefan, Pollak, Rebecca, Purcell, Ryan, Samaco, Rodney, Shah, Bina, Singh, Karun, So, Joyce, Sundberg, Maria, Veeraragavan, Surabi, Vogel-Farley, Vanessa, Wynshaw-Boris, Anthony

المصدر: The American Journal of Human Genetics ; volume 109, issue 8, page 1353-1365 ; ISSN 0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.07.003Test
https://api.elsevier.com/content/article/PII:S000292972200307X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S000292972200307X?httpAccept=text/plainTest

المؤلفون: Cody, Jannine D.

المصدر: Genetics in Medicine ; volume 22, issue 1, page 234-235 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-019-0619-6Test
http://www.nature.com/articles/s41436-019-0619-6.pdfTest
http://www.nature.com/articles/s41436-019-0619-6Test
https://api.elsevier.com/content/article/PII:S1098360021011126?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021011126?httpAccept=text/plainTest

المؤلفون: Mehl, Justin M., Gelfond, Jonathan, Carey, John C., Cody, Jannine D.

المساهمون: Chromosome 18 Registry & Research Society

المصدر: American Journal of Medical Genetics Part A ; volume 194, issue 2, page 279-287 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.63436Test

المؤلفون: Zollino, Marcella, Zweier, Christiane, Van Balkom, Ingrid D., Sweetser, David A., Alaimo, Joseph, Bijlsma, Emilia K., Cody, Jannine, Elsea, Sarah H., Giurgea, Irina, Macchiaiolo, Marina, Smigiel, Robert, Thibert, Ronald L., Benoist, Ingrid, Clayton-Smith, Jill, De Winter, Channa F., Deckers, Stijn, Gandhi, Anusha, Huisman, Sylvia, Kempink, Dagmar, Kruisinga, Frea, Lamacchia, Vittoria, Marangi, Giuseppe, Menke, Leonie, Mulder, Paul, Nordgren, Ann, Renieri, Alessandra, Routledge, Sue, Saunders, Carol J., Stembalska, Agnieszka, Van Balkom, Hans, Whalen, Sandra, Hennekam, Raoul C.

المصدر: Zollino , M , Zweier , C , Van Balkom , I D , Sweetser , D A , Alaimo , J , Bijlsma , E K , Cody , J , Elsea , S H , Giurgea , I , Macchiaiolo , M , Smigiel , R , Thibert , R L , Benoist , I , Clayton-Smith , J , De Winter , C F , Deckers , S , Gandhi , A , Huisman , S , Kempink , D , Kruisinga , F , Lamacchia , V , Marangi , G , Menke , L ....

مصطلحات موضوعية: autonomic dysfunction, diagnostic criteria, guidelines, molecular diagnostic pathway, Pitt-Hopkins syndrome, syndromic behavior, TCF4, CENTRAL SLEEP-APNEA, HELIX TRANSCRIPTION FACTOR, MENTAL-RETARDATION, INTELLECTUAL DISABILITY, TCF4 GENE, PEDIATRIC GASTROENTEROLOGY, EUROPEAN-SOCIETY, CLINICAL SCORE, FACTOR E2-2, DELETION

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/801a67be-672e-4a2d-bb88-8cd5bdf886d2Test

الإتاحة: https://doi.org/10.1111/cge.13506Test
https://hdl.handle.net/11370/801a67be-672e-4a2d-bb88-8cd5bdf886d2Test
https://research.rug.nl/en/publications/801a67be-672e-4a2d-bb88-8cd5bdf886d2Test
https://pure.rug.nl/ws/files/92807682/Zollino_et_al_2019_Clinical_Genetics.pdfTest

المؤلفون: Gould, Georgianna G., Brady, Abigail, Edwards, Marshall T, Garbarino, Valentina R, Sanchez, Alicia, Cody, Jannine D.

المصدر: The FASEB Journal ; volume 33, issue S1 ; ISSN 0892-6638 1530-6860

الإتاحة: https://doi.org/10.1096/fasebj.2019.33.1_supplement.501.12Test

المؤلفون: Balog, Judit, Goossens, Remko, Lemmers, Richard J L F, Straasheijm, Kirsten R, van der Vliet, Patrick J, Heuvel, Anita van den, Cambieri, Chiara, Capet, Nicolas, Feasson, Léonard, Manel, Veronique, Contet, Julian, Kriek, Marjolein, Donlin-Smith, Colleen M, Ruivenkamp, Claudia A L, Heard, Patricia, Tapscott, Stephen J, Cody, Jannine D, Tawil, Rabi, Sacconi, Sabrina, van der Maarel, Silvère M

مصطلحات موضوعية: Genotype-phenotype correlations

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/55/7/469Test; http://dx.doi.org/10.1136/jmedgenet-2017-105153Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2017-105153Test
http://jmg.bmj.com/cgi/content/short/55/7/469Test