نتائج البحث - "Ishak, Gisele E."

1

دورية أكاديمية

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

المؤلفون: Serpieri, Valentina, D'Abrusco, Fulvio, Dempsey, Jennifer C, Cheng, Yong-Han Hank, Arrigoni, Filippo, Baker, Janice, Battini, Roberta, Bertini, Enrico Silvio, Borgatti, Renato, Christman, Angela K, Curry, Cynthia, D'Arrigo, Stefano, Fluss, Joel Victor, Freilinger, Michael, Gana, Simone, Ishak, Gisele E, Leuzzi, Vincenzo, Loucks, Hailey, Manti, Filippo, Mendelsohn, Nancy, Merlini, Laura, Miller, Caitlin V, Muhammad, Ansar, Nuovo, Sara, Romaniello, Romina, Schmidt, Wolfgang, Signorini, Sabrina, Siliquini, Sabrina, Szczałuba, Krzysztof, Vasco, Gessica, Wilson, Meredith, Zanni, Ginevra, Boltshauser, Eugen, Doherty, Dan, Valente, Enza Maria, University of Washington Center for Mendelian Genomics (UW-CMG) group

المصدر: ISSN: 0022-2593 ; Journal of medical genetics, vol. 59, no. 9 (2022) p. 888-894.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34675124; https://archive-ouverte.unige.ch/unige:170894Test; unige:170894

الإتاحة: https://doi.org/10.1136/jmedgenet-2021-108114Test
https://archive-ouverte.unige.ch/unige:170894Test

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2

دورية أكاديمية

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

المساهمون: Serpieri, Valentina, D'Abrusco, Fulvio, Dempsey, Jennifer C, Cheng, Yong-Han Hank, Arrigoni, Filippo, Baker, Janice, Battini, Roberta, Bertini, Enrico Silvio, Borgatti, Renato, Christman, Angela K, Curry, Cynthia, D'Arrigo, Stefano, Fluss, Joel, Freilinger, Michael, Gana, Simone, Ishak, Gisele E, Leuzzi, Vincenzo, Loucks, Hailey, Manti, Filippo, Mendelsohn, Nancy, Merlini, Laura, Miller, Caitlin V, Muhammad, Ansar, Nuovo, Sara, Romaniello, Romina, Schmidt, Wolfgang, Signorini, Sabrina, Siliquini, Sabrina, Szczałuba, Krzysztof, Vasco, Gessica, Wilson, Meredith, Zanni, Ginevra, Boltshauser, Eugen, Doherty, Dan, Valente, Enza Maria

مصطلحات موضوعية: and neonatal diseases and abnormalitie, central nervous system disease, cerebellar disease, congenital, early diagnosi, genetic variation, hereditary

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34675124; info:eu-repo/semantics/altIdentifier/wos/WOS:000725017900001; volume:59; firstpage:888; lastpage:894; numberofpages:7; journal:JOURNAL OF MEDICAL GENETICS; https://hdl.handle.net/11568/1116721Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85120304902; https://jmg.bmj.com/content/59/9/888.longTest

الإتاحة: https://doi.org/10.1136/jmedgenet-2021-108114Test
https://hdl.handle.net/11568/1116721Test
https://jmg.bmj.com/content/59/9/888.longTest

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3

دورية أكاديمية

Correction to: Subdural hemorrhage rebleeding in abused children: frequency, associations and clinical presentation

المؤلفون: Wright, Jason N., Feyma, Timothy J., Ishak, Gisele E., Abeshaus, Sergey, Metz, James B., Brown, Emily C. B., Friedman, Seth D., Browd, Samuel R., Feldman, Kenneth W.

المصدر: Pediatric Radiology ; volume 50, issue 8, page 1161-1161 ; ISSN 0301-0449 1432-1998

مصطلحات موضوعية: Radiology, Nuclear Medicine and imaging, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1007/s00247-020-04687-0Test

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4

دورية أكاديمية

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

المؤلفون: Mak, Christopher C Y, Doherty, Dan, Lin, Angela E, Vegas, Nancy, Cho, Megan T, Viot, Géraldine, Dimartino, Clémantine, Weisfeld-Adams, James D, Lessel, Davor, Joss, Shelagh, Li, Chumei, Gonzaga-Jauregui, Claudia, Zarate, Yuri A, Ehmke, Nadja, Horn, Denise, Troyer, Caitlin, Kant, Sarina G, Lee, Youngha, Ishak, Gisele E, Leung, Gordon, Barone Pritchard, Amanda, Yang, Sandra, Bend, Eric G, Filippini, Francesca, Roadhouse, Chelsea, Lebrun, Nicolas, Mehaffey, Michele G, Martin, Pierre-Marie, Apple, Benjamin, Millan, Francisca, Puk, Oliver, Hoffer, Mariette J V, Henderson, Lindsay B, McGowan, Ruth, Wentzensen, Ingrid M, Pei, Steven, Zahir, Farah R, Yu, Mullin, Gibson, William T, Seman, Ann, Steeves, Marcie, Murrell, Jill R, Luettgen, Sabine, Francisco, Elizabeth, Strom, Tim M, Amlie-Wolf, Louise, Kaindl, Angela M, Wilson, William G, Halbach, Sara, Basel-Salmon, Lina

المساهمون: Université Sorbonne Paris-Cité Pôle de recherche et d'enseignement supérieur, Agence Nationale de la Recherche, MSDAvenir, NIH Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH National Institute of Neurological Diseases and Stroke, NIH National Human Genome Research Institute, Health Innovation Challenge Fund, NIH

المصدر: Brain ; volume 143, issue 1, page 55-68 ; ISSN 0006-8950 1460-2156

الإتاحة: https://doi.org/10.1093/brain/awz379Test
http://academic.oup.com/brain/article-pdf/143/1/55/36604720/awz379.pdfTest

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5

دورية أكاديمية

Redefining the Etiologic Landscape of Cerebellar Malformations

المؤلفون: Aldinger, Kimberly A., Timms, Andrew E., Thomson, Zachary, Mirzaa, Ghayda M., Bennett, James T., Rosenberg, Alexander B., Roco, Charles M., Hirano, Matthew, Abidi, Fatima, Haldipur, Parthiv, Cheng, Chi V., Collins, Sarah, Park, Kaylee, Zeiger, Jordan, Overmann, Lynne M., Alkuraya, Fowzan S., Biesecker, Leslie G., Braddock, Stephen R., Cathey, Sara, Cho, Megan T., Chung, Brian H.Y., Everman, David B., Zarate, Yuri A., Jones, Julie R., Schwartz, Charles E., Goldstein, Amy, Hopkin, Robert J., Krantz, Ian D., Ladda, Roger L., Leppig, Kathleen A., McGillivray, Barbara C., Sell, Susan, Wusik, Katherine, Gleeson, Joseph G., Nickerson, Deborah A., Bamshad, Michael J., Gerrelli, Dianne, Lisgo, Steven N., Seelig, Georg, Ishak, Gisele E., Barkovich, A. James, Curry, Cynthia J., Glass, Ian A., Millen, Kathleen J., Doherty, Dan, Dobyns, William B.

المساهمون: National Institutes of Health, National Institute of Neurological Disorders and Stroke, NINDS, National Institute of Child Health and Human Development, NICHD, National Human Genome Research Institute, NHGRI, The Dandy-Walker Alliance, The Philly Baer Foundation

المصدر: The American Journal of Human Genetics ; volume 105, issue 3, page 606-615 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.07.019Test
https://api.elsevier.com/content/article/PII:S0002929719303027?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929719303027?httpAccept=text/plainTest

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6

دورية أكاديمية

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

المساهمون: National Institute of Neurological Disorders and Stroke, National Eye Institute, National Heart, Lung, and Blood Institute, Netherlands ErasmusMC Mrace, National Human Genome Research Institute, NHGRI, NEI, and NHLBI, NHGRI

المصدر: The American Journal of Human Genetics ; volume 103, issue 6, page 1009-1021 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.10.019Test
https://api.elsevier.com/content/article/PII:S0002929718303719?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929718303719?httpAccept=text/plainTest

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