المؤلفون: Turner, Johnnie, Bruels, Christine C., Daugherty, Audrey L., Estrella, Elicia A., Stafki, Seth, Syeda, Safoora B., Littel, Hannah R., Pais, Lynn, Ganesh, Vijay S., Lidov, Hart G. W., Paine, Simon M. L., Maddison, Paul, Harrison, Rachel E., Straub, Volker, Ghosh, Partha S., Pacak, Christina A., Kunkel, Louis M., Draper, Isabelle, Topf, Ana, Kang, Peter B.

المساهمون: National Human Genome Research Institute, National Eye Institute, Sanofi Genzyme, Ultragenyx Pharmaceutical, Limb Girdle Muscular Dystrophy 2i Research Fund, LGMD2D Foundation, Muscular Dystrophy UK, Bernard F. and Alva B. Gimbel Foundation

المصدر: Muscle & Nerve ; ISSN 0148-639X 1097-4598

الاتاحة: http://dx.doi.org/10.1002/mus.28214
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.28214

المؤلفون: Almansa, Alexandra Santana, Chrzanowski, Stephen M., Rajabi, Farrah, Day‐Lewis, Megan, Lee, Pui Y., Lidov, Hart G. W., Lehman, Laura L., Hayes, Leslie H.

المصدر: Annals of the Child Neurology Society ; ISSN 2831-3267 2831-3267

الاتاحة: http://dx.doi.org/10.1002/cns3.20075
https://onlinelibrary.wiley.com/doi/pdf/10.1002/cns3.20075

المؤلفون: Mancebo, Julia Garcia, Sack, Kristen, Hartford, Jay, Dominguez, Saffron, Balcarcel-Monzon, Michelle, Chartier, Elizabeth, Nguyen, Tien, Cole, Alexis R., Sperotto, Francesca, Harrild, David M., Polizzotti, Brian D., Everett, Allen D., Packard, Alan B., Dearling, Jason, Nedder, Arthur G., Warfield, Simon, Yang, Edward, Lidov, Hart G. W., Kheir, John N., Peng, Yifeng

المصدر: Nature Biomedical Engineering; Nov2024, Vol. 8 Issue 11, p1396-1411, 16p

المؤلفون: Li, Qun, Han, Zhiyuan, Singh, Navleen, Terré, Berta, Fame, Ryann M., Arif, Uzayr, Page, Thomas D., Zahran, Tasneem, Abdeltawab, Ahmed, Huang, Yuan, Cao, Ping, Wang, Jun, Lu, Hao, Lidov, Hart G. W., Surendran, Kameswaran, Wu, Lizhao, Virga, James Q., Zhao, Ying-Tao, Schüller, Ulrich, Wechsler-Reya, Robert J., Lehtinen, Maria K., Roy, Sudipto, Liu, Zhongmin, Stracker, Travis H., Zhao, Haotian

المساهمون: New York Stem Cell Foundation, U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke, A*STAR | Institute of Molecular and Cell Biology, U.S. Department of Health & Human Services | NIH | National Cancer Institute, U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences, Matthew Larson Foundation for Pediatric Brain Tumors

المصدر: Cell Death & Differentiation ; volume 29, issue 8, page 1596-1610 ; ISSN 1350-9047 1476-5403

الاتاحة: http://dx.doi.org/10.1038/s41418-022-00950-z
https://www.nature.com/articles/s41418-022-00950-z.pdf
https://www.nature.com/articles/s41418-022-00950-z

المؤلفون: Mologousis, Mia A., Balkin, Daniel M., Smith, Edward R., Lidov, Hart G. W., Li, Alice M., Yang, Edward, Liang, Marilyn G.

المصدر: Pediatric Dermatology; Mar2024, Vol. 41 Issue 2, p284-288, 5p

مصطلحات موضوعية: CHILD patients, NEUROCUTANEOUS disorders, HEMANGIOMAS, HUMAN abnormalities

المؤلفون: Bruels, Christine C., Li, Chengcheng, Mendoza, Tonatiuh, Khan, Jamillah, Reddy, Hemakumar M., Estrella, Elicia A., Ghosh, Partha S., Darras, Basil T., Lidov, Hart G. W., Pacak, Christina A., Kunkel, Louis M., Modave, François, Draper, Isabelle, Kang, Peter B.

المساهمون: National Institutes of Health

المصدر: Molecular Genetics & Genomic Medicine ; volume 7, issue 3 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.552
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.552
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.552
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.552

المؤلفون: Bruels, Christine C., Li, Chengcheng, Mendoza, Tonatiuh, Khan, Jamillah, Reddy, Hemakumar M., Estrella, Elicia A., Ghosh, Partha S., Darras, Basil T., Lidov, Hart G. W., Pacak, Christina A., Kunkel, Louis M., Modave, François, Draper, Isabelle, Kang, Peter B.

المصدر: Molecular Genetics & Genomic Medicine ; volume 7, issue 3 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.646
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.646

المؤلفون: Miller, Katherine E, Rivaldi, Adithe C, Shinagawa, Noriyuki, Sran, Sahib, Navarro, Jason B, Westfall, Jesse J, Miller, Anthony R, Roberts, Ryan D, Akkari, Yassmine, Supinger, Rachel, Hester, Mark E, Marhabaie, Mohammad, Gade, Meethila, Lu, Jinfeng, Rodziyevska, Olga, Bhattacharjee, Meenakshi B, Von Allmen, Gretchen K, Yang, Edward, Lidov, Hart G W, Harini, Chellamani, Shah, Manish N, Leonard, Jeffrey, Pindrik, Jonathan, Shaikhouni, Ammar, Goldman, James E, Pierson, Christopher R, Thomas, Diana L, Boué, Daniel R, Ostendorf, Adam P, Mardis, Elaine R, Poduri, Annapurna, Koboldt, Daniel C, Heinzen, Erin L, Bedrosian, Tracy A

المصدر: Journal Articles

مصطلحات موضوعية: Brain mosaicism, neurodevelopment, cerebral cortex, meiotic nondisjunction, single-cell, epilepsy, hyaline astrocytic inclusions, Humans, Mosaicism, Mouth Mucosa, Mutation, Brain, Epilepsies, Partial, Medical Specialties, Medicine and Health Sciences, Neurosurgery

وصف الملف: application/pdf

Relation: https://digitalcommons.library.tmc.edu/uthmed_docs/1673; https://digitalcommons.library.tmc.edu/context/uthmed_docs/article/2643/viewcontent/nihms_1945146.pdf

الاتاحة: https://digitalcommons.library.tmc.edu/uthmed_docs/1673
https://digitalcommons.library.tmc.edu/context/uthmed_docs/article/2643/viewcontent/nihms_1945146.pdf

المؤلفون: Miller, Katherine E., Rivaldi, Adithe C., Shinagawa, Noriyuki, Sran, Sahib, Navarro, Jason B., Westfall, Jesse J., Miller, Anthony R., Roberts, Ryan D., Akkari, Yassmine, Supinger, Rachel, Hester, Mark E., Marhabaie, Mohammad, Gade, Meethila, Lu, Jinfeng, Rodziyevska, Olga, Bhattacharjee, Meenakshi B., Von Allmen, Gretchen K., Yang, Edward, Lidov, Hart G. W., Harini, Chellamani, Shah, Manish N., Leonard, Jeffrey, Pindrik, Jonathan, Shaikhouni, Ammar, Goldman, James E., Pierson, Christopher R., Thomas, Diana L., Boue, Daniel R., Ostendorf, Adam P., Mardis, Elaine R., Poduri, Annapurna, Koboldt, Daniel C., Heinzen, Erin L., Bedrosian, Tracy A.

المصدر: Nature Genetics, 55(11)

مصطلحات موضوعية: Mosaicism, Mutation, Mouth Mucosa, Epilepsies, Partial, Brain, Humans

Relation: https://doi.org/10.17615/8wx3-1a14; https://cdr.lib.unc.edu/downloads/gb19fh944?file=thumbnail; https://cdr.lib.unc.edu/downloads/gb19fh944

الاتاحة: https://doi.org/10.17615/8wx3-1a14
https://cdr.lib.unc.edu/downloads/gb19fh944?file=thumbnail
https://cdr.lib.unc.edu/downloads/gb19fh944

المؤلفون: Mologousis, Mia A., Balkin, Daniel M., Smith, Edward R., Lidov, Hart G. W., Li, Alice M., Yang, Edward, Liang, Marilyn G.

المصدر: Pediatric Dermatology ; volume 41, issue 2, page 284-288 ; ISSN 0736-8046 1525-1470

الاتاحة: http://dx.doi.org/10.1111/pde.15423
https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.15423

المؤلفون: Nascimento, Andres, Bruels, Christine C., Donkervoort, Sandra, Foley, A. Reghan, Codina, Anna, Milisenda, Jose C., Estrella, Elicia A., Li, Chengcheng, Pijuan, Jordi, Draper, Isabelle, Hu, Ying, Stafki, Seth A., Pais, Lynn S., Ganesh, Vijay S., O’Donnell-Luria, Anne, Syeda, Safoora B., Carrera-García, Laura, Expósito-Escudero, Jessica, Yubero, Delia, Martorell, Loreto, Pinal-Fernandez, Iago, Lidov, Hart G. W., Mammen, Andrew L., Grau-Junyent, Josep M., Ortez, Carlos, Palau, Francesc, Ghosh, Partha S., Darras, Basil T., Jou, Cristina, Kunkel, Louis M., Hoenicka, Janet, Bönnemann, Carsten G., Kang, Peter B., Natera-de Benito, Daniel

المساهمون: Instituto de Salud Carlos III, Institut de Recerca Sant Joan de Déu, Fundación Isabel Gemio, AGAUR, Torro Solidari-RAC1 i Torrons Vicens, National Institute of Neurological Disorders and Stroke, National Eye Institute, National Human Genome Research Institute

المصدر: Acta Neuropathologica ; volume 145, issue 4, page 479-496 ; ISSN 0001-6322 1432-0533

الاتاحة: http://dx.doi.org/10.1007/s00401-023-02551-7
https://link.springer.com/content/pdf/10.1007/s00401-023-02551-7.pdf
https://link.springer.com/article/10.1007/s00401-023-02551-7/fulltext.html

المؤلفون: Barba, Carmen, Blumcke, Ingmar, Winawer, Melodie R, Hartlieb, Till, Kang, Hoon-Chul, Grisotto, Laura, Chipaux, Mathilde, Bien, Christian, Hermanovska, Barbora, Porter, Brenda E, Lidov, Hart G W, Cetica, Valentina, Woermann, Friedrich G, Lopez-Rivera, Javier A, Canoll, Peter D, Mader, Irina, D'Incerti, Ludovico, Baldassari, Sara, Yang, Edward, Gaballa, Ahmed, Vogel, Hannes, Benova, Barbora, Macconi, Letizia, Polster, Tilman, Grant, Gerald A, Krskova, Lenka, Shin, Hui Jin, Ko, Ara, Crino, Peter B, Krsek, Pavel, Lee, Jeong Ho, Lal, Dennis, Baulac, Stephanie, Poduri, Annapurna, Guerrini, Renzo

Relation: info:eu-repo/semantics/altIdentifier/issn/1526-632X; info:eu-repo/semantics/altIdentifier/wos/000928267900023; info:eu-repo/semantics/altIdentifier/pmid/36307217; https://pub.uni-bielefeld.de/record/2966852

الاتاحة: https://pub.uni-bielefeld.de/record/2966852

المؤلفون: Lai, Dulcie, Gade, Meethila, Yang, Edward, Koh, Hyun Yong, Lu, Jinfeng, Walley, Nicole M, Buckley, Anne F, Sands, Tristan T, Akman, Cigdem I, Mikati, Mohamad A, McKhann, Guy M, Goldman, James E, Canoll, Peter, Alexander, Allyson L, Park, Kristen L, Von Allmen, Gretchen K, Rodziyevska, Olga, Bhattacharjee, Meenakshi B, Lidov, Hart G W, Vogel, Hannes, Grant, Gerald A, Porter, Brenda E, Poduri, Annapurna H, Crino, Peter B, Heinzen, Erin L

المصدر: Brain, 145(8)

مصطلحات موضوعية: Epilepsy, Cadherins, Female, Phosphatidylinositol 3-Kinases, Protocadherins, Mutation, Hemimegalencephaly, Humans, Malformations of Cortical Development, Group I, Proto-Oncogene Proteins c-akt, TOR Serine-Threonine Kinases, Cell Cycle Proteins

Relation: https://doi.org/10.17615/98hm-r135; https://cdr.lib.unc.edu/downloads/zg64tx86d?file=thumbnail; https://cdr.lib.unc.edu/downloads/zg64tx86d

الاتاحة: https://doi.org/10.17615/98hm-r135
https://cdr.lib.unc.edu/downloads/zg64tx86d?file=thumbnail
https://cdr.lib.unc.edu/downloads/zg64tx86d

المؤلفون: Angel Buitrago, Luisa F., Lidov, Hart G. W., Ghosh, Partha S.

المصدر: Journal of Clinical Neuromuscular Disease ; volume 23, issue 3, page 160-161 ; ISSN 1522-0443

الاتاحة: http://dx.doi.org/10.1097/cnd.0000000000000373
https://journals.lww.com/10.1097/CND.0000000000000373

المؤلفون: Byrne, Susan, Jansen, Lara, U-King-im, Jean Marie, Siddiqui, Ata, Lidov, Hart G W, Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohammed, Bruwer, Zandre, Al Thihli, Khalid, El-Garhy, Rana, Flanigan, Kevin M., Manickam, Kandamurugu, Zmuda, Erik, Banks, Wesley, Gershoni-Baruch, Ruth, Mandel, Hanna, Dagan, Efrat, Raas-Rothschild, Annick, Barash, Hila, Filloux, Francis, Creel, Donnell, Harris, Michael, Hamosh, Ada, Kölker, Stefan, Ebrahimi-Fakhari, Darius, Hoffmann, Georg F., Manchester, David, Boyer, Philip J., Manzur, Adnan Y., Lourenco, Charles Marques, Pilz, Daniela T., Kamath, Arveen, Prabhakar, Prab, Rao, Vamshi K., Rogers, R. Curtis, Ryan, Monique M., Brown, Natasha J., McLean, Catriona A., Said, Edith, Schara, Ulrike, Stein, Anja, Sewry, Caroline, Travan, Laura, Wijburg, Frits A., Zenker, Martin, Mohammed, Shehla, Fanto, Manolis, Gautel, Mathias, Jungbluth, Heinz

المصدر: Byrne , S , Jansen , L , U-King-im , J M , Siddiqui , A , Lidov , H G W , Bodi , I , Smith , L , Mein , R , Cullup , T , Dionisi-Vici , C , Al-Gazali , L , Al-Owain , M , Bruwer , Z , Al Thihli , K , El-Garhy , R , Flanigan , K M , Manickam , K , Zmuda , E , Banks , W , Gershoni-Baruch , R , Mandel , H , Dagan , E , Raas-Rothschild , A , Barash , ....

مصطلحات موضوعية: Callosal agenesis, Ectopic P granules autophagy protein 5, EPG5, Neurodegeneration, Neurodevelopment, Vici syndrome

وصف الملف: application/pdf

Relation: https://kclpure.kcl.ac.uk/portal/en/publications/86964d2d-5ace-4ba6-8539-ba7fae115aaf

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/86964d2d-5ace-4ba6-8539-ba7fae115aaf
https://doi.org/10.1093/brain/awv393
https://kclpure.kcl.ac.uk/ws/files/147987896/EPG5_related_Vici_syndrome_JUNGBLUTH_Publishedonline17February2016_GOLD_VoR_CC_BY_.pdf
http://www.scopus.com/inward/record.url?scp=84964689063&partnerID=8YFLogxK

المؤلفون: Mangum, Joshua E., Hardee, Justin P., Fix, Dennis K., Puppa, Melissa J., Elkes, Johnathon, Altomare, Diego, Bykhovskaya, Yelena, Campagna, Dean R., Schmidt, Paul J., Sendamarai, Anoop K., Lidov, Hart G. W., Barlow, Shayne C., Fischel-Ghodsian, Nathan, Fleming, Mark D., Carson, James A., Patton, Jeffrey R.

المصدر: Scientific Reports ; volume 6, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/srep26202
https://www.nature.com/articles/srep26202
https://www.nature.com/articles/srep26202.pdf

المؤلفون: Boisson, Bertrand, Laplantine, Emmanuel, Dobbs, Kerry, Cobat, Aurélie, Tarantino, Nadine, Hazen, Melissa, Lidov, Hart G W, Hopkins, Gregory, Du, Likun, Belkadi, Aziz, Chrabieh, Maya, Itan, Yuval, Picard, Capucine, Fournet, Jean-Christophe, Eibel, Hermann, Tsitsikov, Erdyni, Pai, Sung-Yun, Abel, Laurent, Al-Herz, Waleed, Casanova, Jean-Laurent, Israel, Alain, Notarangelo, Luigi D

المساهمون: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University New York, Signalisation et Pathogénèse, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), Division of Immunology and The Manton Center for Orphan Disease Research, Children's Hospital, Harvard Medical School, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Pathology, Division of Hematology-Oncology, Study center for Immunodeficiencies, Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre of Chronic Immunodeficiency, University Medical Centre Freiburg, Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital, Howard Hughes Medical Institute (HHMI), Service d'Immunologie et d'Hématologie Pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Harvard Stem Cell Institute, Harvard University, This work was partly funded by NCRR and NCATS, National Institutes of Health (8UL1TR000043), St. Giles Foundation, The Rockefeller University, Institut National de la Santé et de la Recherche Médicale, Paris Descartes University, NIH (5P01AI061093, J.-L. Casanova), Canceropole Ile de France (2007, A. Israel), the “Fondation ARC pour la Recherche sur le Cancer” (SFI20121205641) and the “Ligue Contre le Cancer” (E. Laplantine), NIH (5P01AI076210, L.D. Notarangelo), NIH (5R01AI100887), the Manton Foundation (L.D. Notarangelo), the Dubai Harvard Foundation for Medical Research (W. Al-Herz and L.D. Notarangelo), and the Kuwait Foundation for the Advancement of Sciences (grant 2010-1302-05, W. Al-Herz).

المصدر: ISSN: 0022-1007.

مصطلحات موضوعية: [SDV.BC]Life Sciences [q-bio]/Cellular Biology, [SDV.IMM]Life Sciences [q-bio]/Immunology

Relation: info:eu-repo/semantics/altIdentifier/pmid/26008899; pasteur-01158038; https://pasteur.hal.science/pasteur-01158038; https://pasteur.hal.science/pasteur-01158038/document; https://pasteur.hal.science/pasteur-01158038/file/J%20Exp%20Med-2015-Boisson-jem.20141130.pdf; PUBMED: 26008899

الاتاحة: https://pasteur.hal.science/pasteur-01158038
https://pasteur.hal.science/pasteur-01158038/document
https://pasteur.hal.science/pasteur-01158038/file/J%20Exp%20Med-2015-Boisson-jem.20141130.pdf
https://doi.org/10.1084/jem.20141130

المؤلفون: Boyden, Steven E., Mahoney, Lane J., Kawahara, Genri, Myers, Jennifer A., Mitsuhashi, Satomi, Estrella, Elicia A., Duncan, Anna R., Dey, Friederike, DeChene, Elizabeth T., Blasko-Goehringer, Jessica M., Bönnemann, Carsten G., Darras, Basil T., Mendell, Jerry R., Lidov, Hart G. W., Nishino, Ichizo, Beggs, Alan H., Kunkel, Louis M., Kang, Peter B.

المصدر: neurogenetics ; volume 13, issue 2, page 115-124 ; ISSN 1364-6745 1364-6753

الاتاحة: http://dx.doi.org/10.1007/s10048-012-0315-z
http://www.springerlink.com/index/pdf/10.1007/s10048-012-0315-z

المؤلفون: Zhou, Yunli, Cheunsuchon, Pornsuk, Nakayama, Yuki, Lawlor, Michael W., Zhong, Ying, Rice, Kimberley A., Zhang, Li, Zhang, Xun, Gordon, Francesca E., Lidov, Hart G. W., Bronson, Roderick T., Klibanski, Anne

مصطلحات موضوعية: DEVELOPMENT AND STEM CELLS

وصف الملف: text/html

Relation: http://dev.biologists.org/cgi/content/short/137/16/2643; http://dx.doi.org/10.1242/dev.045724

الاتاحة: http://dev.biologists.org/cgi/content/short/137/16/2643
https://doi.org/10.1242/dev.045724

المؤلفون: Raju, G. Praveen, Li, Hsin-Chang, Bali, Deeksha S., Chen, Yuan-Tsong, Urion, David K., Lidov, Hart G. W., Kang, Peter B.

المصدر: Journal of Child Neurology ; volume 23, issue 3, page 349-352 ; ISSN 0883-0738 1708-8283

الاتاحة: https://doi.org/10.1177/0883073807309248
https://journals.sagepub.com/doi/pdf/10.1177/0883073807309248