Zobrazeno 1 - 4
of 4
pro vyhledávání: '"LOVD, Leiden open variation database"'
Autor:
Yahya Mohzari, Mushira Enani, Asma S. Albujaidya, Bandar Alosaimi, Nada M. Alkhani, Ahmed A. Alrashed, Mona A. Alanazi, Amal Ben-Akresh, Ahmad Alamer, Tahir Mehmood Khan, Syed Mohammed Basheeruddin Asdaq, Ivo Abraham, Malak Almutairi, Wafa Alfahad, Maram M. Alghalbi, Noara Alhusseini
Publikováno v:
Journal of Infection and Public Health, Vol 14, Iss 6, Pp 726-733 (2021)
Journal of Infection and Public Health
Journal of Infection and Public Health
Background The uncertainty about COVID-19 outcomes in angiotensin-converting enzyme inhibitors (ACEI)/angiotensin receptor blockers (ARB) users continues with contradictory findings. This study aimed to determine the effect of ACEI/ARB use in patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b701adff8142b4fd727d1c2a485984cc
http://www.sciencedirect.com/science/article/pii/S1876034121000691
http://www.sciencedirect.com/science/article/pii/S1876034121000691
Publikováno v:
Isakov, O, Wallis, D, Evans, D G & Ben-shachar, S 2018, ' Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture ', EBioMedicine, vol. 36 . https://doi.org/10.1016/j.ebiom.2018.09.039
EBioMedicine
EBioMedicine
Background Neurofibromatosis type I (NF1) is caused by heterozygous loss-of-function variants in the NF1 gene encoding neurofibromin which serves as a tumor suppressor that inhibits RAS signaling and regulates cell proliferation and differentiation.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82854d153e0aebf0fdf4276732ba418c
https://doi.org/10.1016/j.ebiom.2018.09.039
https://doi.org/10.1016/j.ebiom.2018.09.039
Autor:
Verónica Fabiola Morán-Barroso, Erika Pelcastre-Luna, Adriana Sánchez-Boiso, Constanza García-Delgado, Juan Carlos Zenteno, Benjamín Antonio Rodríguez-Espino, Marco Cerbón, Gustavo Varela-Fascinetto, Pedro Valencia-Mayoral, Solange Heller-Rosseau, Edgar Ricardo Vázquez-Martínez
Publikováno v:
Meta Gene
Alagille syndrome is a multisystem disorder with an autosomic dominant pattern of inheritance that affects the liver, heart, eyes, kidneys, skeletal system and presents characteristic facial features. Mutations of the JAG1 gene have been identified i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43367b3761feac83f516066cf03f9656
https://doi.org/10.1016/j.mgene.2013.10.002
https://doi.org/10.1016/j.mgene.2013.10.002
Autor:
Vázquez-Martínez ER; Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México ; Department of Biology, Faculty of Chemistry, UNAM, Delegación Coyoacán, Distrito Federal C.P. 04510, México., Varela-Fascinetto G; Department of Transplantation, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México., García-Delgado C; Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México., Rodríguez-Espino BA; Department of Nephrology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México., Sánchez-Boiso A; Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México., Valencia-Mayoral P; Department of Pathology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México., Heller-Rosseau S; Department of Gastroenterology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México., Pelcastre-Luna EL; Department of Biochemistry, Faculty of Medicine, UNAM, Delegación Coyoacán, Distrito Federal C.P. 04510, México., Zenteno JC; Department of Biochemistry, Faculty of Medicine, UNAM, Delegación Coyoacán, Distrito Federal C.P. 04510, México ; Genetics Department and Research Unit, Institute of Ophthalmology 'Conde de Valenciana', Chimalpopoca 14 Colonia Obrera, Delegación Cuauhtémoc, Distrito Federal C.P. 06800, México., Cerbón M; Department of Biology, Faculty of Chemistry, UNAM, Delegación Coyoacán, Distrito Federal C.P. 04510, México., Morán-Barroso VF; Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México.
Publikováno v:
Meta gene [Meta Gene] 2013 Dec 08; Vol. 2, pp. 32-40. Date of Electronic Publication: 2013 Dec 08 (Print Publication: 2014).