Zobrazeno 1 - 10
of 604
pro vyhledávání: '"Hart, G.W."'
Autor:
Xu, Huixin, Lotfy, Peter, Gelb, Sivan, Pragana, Aja, Hehnly, Christine, Byer, Lillian I.J., Shipley, Frederick B., Zawadzki, Miriam E., Cui, Jin, Deng, Liwen, Taylor, Milo, Webb, Mya, Lidov, Hart G.W., Andermann, Mark L., Chiu, Isaac M., Ordovas-Montanes, Jose, Lehtinen, Maria K.
Publikováno v:
In Cell 5 September 2024 187(18):4946-4963
Autor:
Cole, Alexis R., Perry, Dorothy A., Raza, Ali, Nedder, Arthur P., Pollack, Elizabeth, Regan, William L., van den Bosch, Sarah J., Polizzotti, Brian D., Yang, Edward, Davila, Daniel, Afacan, Onur, Warfield, Simon K., Ou, Yangming, Sefton, Brenda, Everett, Allen D., Neil, Jeffrey J., Lidov, Hart G.W., Mayer, John E., Kheir, John N.
Publikováno v:
In JACC: Basic to Translational Science April 2019 4(2):176-187
Autor:
Shannon, Morgan L., Fame, Ryann M., Chau, Kevin F., Dani, Neil, Calicchio, Monica L., Géléoc, Gwenaelle S., Lidov, Hart G.W., Alexandrescu, Sanda, Lehtinen, Maria K.
Publikováno v:
In The American Journal of Pathology June 2018 188(6):1334-1344
Autor:
Alyaa Al-Ibraheemi, Siddharth Srivastava, Aristotelis Filippidis, Alfred P. See, Katie Pricola Fehnel, Hart G.W. Lidov, Darren B. Orbach
Publikováno v:
American Journal of Medical Genetics Part A. 188:907-910
Gain of function PIK3CA pathogenic variants have been identified in overgrowth syndromes collectively termed "PIK3CA-related overgrowth spectrum" (PROS). There are no previously reported cases of cerebrovascular venous malformations in PROS syndromes
Autor:
Simon K. Warfield, Bahram Marami, Hart G.W. Lidov, Fedel Machado-Rivas, Camilo Jaimes, Onur Afacan, Ali Gholipour, Shadab Khan, Clemente Velasco-Annis
Publikováno v:
Human Brain Mapping
Population averaged diffusion atlases can be utilized to characterize complex microstructural changes with less bias than data from individual subjects. In this study, a fetal diffusion tensor imaging (DTI) atlas was used to investigate tract‐based
Autor:
Lance H. Rodan, Hart G.W. Lidov, Muhamed Hadzipasic, Sanjay P. Prabhu, Heather E. Olson, Karen Wright, Madeline B Karsten, Katie Pricola Fehnel
Publikováno v:
American Journal of Medical Genetics Part A. 185:1614-1618
Akademický článek
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Autor:
Hart G.W. Lidov, Sara O. Vargas, Keith L. Ligon, David Meredith, Mariangela Novello, Sanda Alexandrescu, Rita Alaggio
Publikováno v:
Histopathology. 78:265-275
Aims Primary intracranial sarcoma, DICER1-mutant is a recently described central nervous system tumour with specific genomic and DNA-methylation profiles. Although some of its histological features (focal spindle-cell morphology, intracytoplasmic eos
Autor:
Lefeber, D.J., Freeze, H.H., Steet, R., Kinoshita, T., Varki, A., Cummings, R.D., Esko, J.D., Stanley, P., Hart, G.W., Aebi, M., Mohnen, D., Packer, N.H., Prestegard, J.H., Schnaar, R.L., Seeberger, P.H.
Publikováno v:
Varki, A.; Cummings, R.D.; Esko, J.D. (ed.), Essentials of Glycobiology, 599-614. Cold Spring Harbor (NY) : Cold Spring Harbor Laboratory Press
STARTPAGE=599;ENDPAGE=614;TITLE=Varki, A.; Cummings, R.D.; Esko, J.D. (ed.), Essentials of Glycobiology
STARTPAGE=599;ENDPAGE=614;TITLE=Varki, A.; Cummings, R.D.; Esko, J.D. (ed.), Essentials of Glycobiology
This chapter discusses inherited human diseases that are caused by defects in glycan biosynthesis and metabolism (congenital disorders of glycosylation, CDGs). Representative examples are described of genetic defects in the major glycan families and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3e047114e6b57c4b797d8762c97c13ce
http://hdl.handle.net/2066/282656
http://hdl.handle.net/2066/282656
Autor:
Dulcie Lai, Meethila Gade, Edward Yang, Hyun Yong Koh, Nicole M. Walley, Anne F. Buckley, Tristan T. Sands, Cigdem I. Akman, Mohamad A. Mikati, Guy M. McKhann, James E. Goldman, Peter D. Canoll, Allyson L. Alexander, Kristen L. Park, Gretchen K. Von Allmen, Meenakshi B. Bhattacharjee, Hart G.W. Lidov, Hannes Vogel, Gerald A. Grant, Brenda E. Porter, Annapurna H. Poduri, Peter B. Crino, Erin L. Heinzen
Post-zygotically acquired genetic variants, or somatic variants, that arise during cortical development have emerged as important causes of focal epilepsies, particularly those due to malformations of cortical development. Pathogenic somatic variants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::09d54f1a7b8a5e34586ff4179cebf388
https://doi.org/10.1101/2021.12.22.21267563
https://doi.org/10.1101/2021.12.22.21267563