Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Pramod Mistry"'
Autor:
Pramod Mistry, Manisha Balwani, Joel Charrow, Jeremy Lorber, Claus Niederau, Jenny Carwile, Sefika Uslu, Priya S. Kishnani
Publikováno v:
HemaSphere, Vol 7, p e2191333 (2023)
Externí odkaz:
https://doaj.org/article/86d87eaa776442bdb54fa0be6dfd098b
Autor:
Lisa Sniderman King, Mario Aguiar, Alexandra Chiorean, Alexandra Dumitriu, Judy Hull, Pramod Mistry, François Modave, Martin Montmerle, Patrick Pavlick, Neha Shah, Neal Weinreb, Amanda Wilson
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100338- (2023)
Externí odkaz:
https://doaj.org/article/60a31db4c76d41c8a628dff2f07e0b45
Publikováno v:
IDCases, Vol 7, Iss C, Pp 9-10 (2017)
Infections in patients with cirrhosis are common among those who develop variceal hemorrhage. Prophylactic antimicrobial treatment with third generation cephalosporins is recommended in patients with advanced cirrhosis and gastrointestinal hemorrhage
Externí odkaz:
https://doaj.org/article/fe505e279e7342708db7b595fa1150c5
Autor:
Raphael Schiffmann, Timothy M Cox, Jean-François Dedieu, Sebastiaan J M Gaemers, Julia B Hennermann, Hiroyuki Ida, Eugen Mengel, Pascal Minini, Pramod Mistry, Petra B Musholt, David Scott, Jyoti Sharma, M Judith Peterschmitt
Gaucher disease type 3 is a chronic neuronopathic disorder with wide-ranging effects, including hepatosplenomegaly, anaemia, thrombocytopenia, skeletal disease and diverse neurological manifestations. Biallelic mutations in GBA1 reduce lysosomal acid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed219c4759532a6c770f7c376cc91518
https://www.repository.cam.ac.uk/handle/1810/342736
https://www.repository.cam.ac.uk/handle/1810/342736
Publikováno v:
Genetics in Medicine. 24:S127-S128
Autor:
Lola Cook, Jeanine Schulze, Jennifer Verbrugge, James C. Beck, Karen S. Marder, Rachel Saunders-Pullman, Christine Klein, Anna Naito, Roy N. Alcalay, Alexis Brice, Amasi Kumeh, Andrew B. West, Andrew Singleton, Birgitt Schüle, Brian Fiske, Carolin Gabbert, Connie Marras, Cornelis Blauwendraat, Courtney Thaxton, Dario Alessi, David Craig, Edward A. Fon, Emily Forbes, Enza Maria Valente, Esther Sammler, Gill Chao, Giulietta Riboldi, Houda Zghal Elloumi, Ignacio Mata, Jamie C. Fong, Jean-Christophe Corvol, Joshua Shulman, Judith Peterschmitt, Karen Marder, Katja Lohmann, Kelly Nudelman, Lara Lange, Mark R. Cookson, Martha Nance, Matthew Farrer, Melina Grigorian, Michael A. Schwarzschild, Niccolo Mencacci, Owen Ross, Pramod Mistry, Priscila Hodges, Rachel Blake, S. Pablo Sardi, Sali Farhan, Samuel Strom, Shalini Padmanabhan, Shruthi Mohan, Simonne Longerich, Susanne Schneider, Suzanne Lesage, Tanya Bardakjian, Tatiana Foroud, Thomas Courtin, Thomas Tropea, Yunlong Liu, Ziv Gan-Or, Ali S. Shalash, Anne Hall, Avner Thaler, Carolyn M. Sue, Deborah Mascalzoni, Deborah Raymond, Emilia Mabel Gatto, Gian D. Pal, Inke König, Ivana Novakovic, Marcelo Merello, Mehri Salari, Niccolo Emanuele Mencacci, Nobutaka Hattori, Oksana Suchowersky, Soraya Bardien, Sun Ju Chung, Tatyana Simuni, Timothy Lynch, Vincenzo Bonifati
Publikováno v:
Parkinsonism Relat Disord
Parkinsonism and Related Disorders, 92, 107-111. Elsevier
Parkinsonism and Related Disorders, 92, 107-111. Elsevier
Introduction There have been no specific guidelines regarding which genes should be tested in the clinical setting for Parkinson's disease (PD) or parkinsonism. We evaluated the types of clinical genetic testing offered for PD as the first step of ou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::795bfd2d4987b04ddddc4b213b2371ba
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-468461
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-468461
Publikováno v:
Molecular Genetics and Metabolism. 135:S71