Zobrazeno 1 - 10
of 269
pro vyhledávání: '"Mm, Cabrera"'
Autor:
Elina Ikonen, Linder, FJ Lezana, W Meyer, Arndt Rolfs, U Goelnitz, Frank Brasch, Gerhard Liebisch, MM Cabrera, Matthias Griese, A Pamir, Pia Lohse, Gerd Schmitz, Andrea Schams, Jan Ripper, VR Aldana, BJ Karam
Publikováno v:
Clinical Genetics. 77:119-130
Niemann-Pick diseases are hereditary neurovisceral lysosomal lipid storage disorders, of which the rare type C2 almost uniformly presents with respiratory distress in early infancy. In the patient presented here, the NPC2 exon 4 frameshift mutation c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4d429b71679d90e0ad82fb267cb6c1b
https://doi.org/10.1111/j.1399-0004.2009.01325.x
https://doi.org/10.1111/j.1399-0004.2009.01325.x
Autor:
Mondal, Partha Chandra1,2 (AUTHOR), Salim, Rajna3 (AUTHOR), Kumar, Vijay2 (AUTHOR), Kaushik, Parshant2 (AUTHOR), Shakil, Najam Akhtar2 (AUTHOR), Pankaj4 (AUTHOR), Rana, Virendra Singh2 (AUTHOR) ranavs2000@yahoo.com
Publikováno v:
Scientific Reports. 10/16/2024, Vol. 14 Issue 1, p1-16. 16p.
Autor:
Dietrich, Marlies1 (AUTHOR), Panhölzl, Christopher1 (AUTHOR), Angel, Roey1,2 (AUTHOR), Giguere, Andrew T.1 (AUTHOR), Randi, Dania1 (AUTHOR), Hausmann, Bela3,4 (AUTHOR), Herbold, Craig W.1,5 (AUTHOR), Pötsch, Erich M.6 (AUTHOR), Schaumberger, Andreas6 (AUTHOR), Eichorst, Stephanie A.1 (AUTHOR), Woebken, Dagmar1 (AUTHOR) dagmar.woebken@univie.ac.at
Publikováno v:
Communications Biology. 7/11/2024, p1-14. 14p.
Autor:
Andrea Schams, J Ripper, M Woischnik, FJ Lezana, Matthias Griese, A Pamir, Arndt Rolfs, Gerhard Liebisch, MM Cabrera, VR Aldana, BJ Karam, Frank Brasch, Pia Lohse, Gerd Schmitz
Publikováno v:
D47. NEONATAL AND RARE LUNG DISEASES.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::81355c6856ad9a926502d3d9f9fe1c6e
https://doi.org/10.1164/ajrccm-conference.2009.179.1_meetingabstracts.a5964
https://doi.org/10.1164/ajrccm-conference.2009.179.1_meetingabstracts.a5964
Autor:
Vergine, Marzia1 (AUTHOR), Vita, Federico2 (AUTHOR) federico.vita@uniba.it, Casati, Paola3 (AUTHOR), Passera, Alessandro3 (AUTHOR), Ricciardi, Luigi4 (AUTHOR), Pavan, Stefano4 (AUTHOR), Aprile, Alessio1 (AUTHOR), Sabella, Erika1 (AUTHOR), De Bellis, Luigi1 (AUTHOR), Luvisi, Andrea1 (AUTHOR)
Publikováno v:
BMC Plant Biology. 4/25/2024, Vol. 24 Issue 1, p1-17. 17p.
Autor:
Phani, Victor1 (AUTHOR), Gowda, Manjunatha T.2 (AUTHOR), Dutta, Tushar K.3 (AUTHOR) tushar.dutta@icar.gov.in
Publikováno v:
Journal of Pest Science. Mar2024, Vol. 97 Issue 2, p539-560. 22p.
Autor:
Forero-Peña, David A.1,2,3 (AUTHOR) vacter.cv@gmail.com, Carrión-Nessi, Fhabián S.1,3 (AUTHOR) fhabiancarrion@gmail.com, Forero-Peña, José L.1 (AUTHOR), Camejo-Ávila, Natasha A.1 (AUTHOR), Mendoza-Millán, Daniela L.1,3 (AUTHOR), Omaña-Ávila, Óscar D.1,3 (AUTHOR), Maricuto, Andrea L.1,2 (AUTHOR), Velásquez, Viledy L.2 (AUTHOR), Mejía-Bernard, Mario D.1,3 (AUTHOR), Rodriguez-Saavedra, Carlis M.1 (AUTHOR), Marcano-Rojas, María V.1 (AUTHOR), Contreras, Yoesmir1 (AUTHOR), Guerra, Luis J.2 (AUTHOR), Alvarado, María F.2 (AUTHOR), Carballo, Martín2 (AUTHOR), Caldera, Jocays2 (AUTHOR), Guevara, Rafael N.2 (AUTHOR), Redondo, María C.2 (AUTHOR), Landaeta, María E.2 (AUTHOR)
Publikováno v:
BMC Infectious Diseases. 1/15/2024, Vol. 24 Issue 1, p1-10. 10p.
Autor:
Intriago, Luis1, Talledo, Viviana1, Arteaga, Rudyard1, Pazmiño, Anderson1 anderson.pazmino@utm.edu.ec, Cuenca-Nevárez, Gerardo1
Publikováno v:
La Granja, de Ciencias de la Vida. Sep2023-Feb2024, Vol. 38 Issue 2, p17-31. 15p.
Autor:
Dong Hyun Seo, Seul Gi Lee, Soon Min Choi, Ha Yan Kim, Sunmi Park, Sang Geun Jung, Young Suk Jo, Jandee Lee
Publikováno v:
Endocrine-Related Cancer; Nov2024, Vol. 31 Issue 11, p56-70, 15p
Publikováno v:
Journal of Endocrinological Investigation; Sep2024, Vol. 47 Issue 9, p2157-2176, 20p