Zobrazeno 1 - 10
of 217
pro vyhledávání: '"Maria Schwab"'
Publikováno v:
Weather and Climate Extremes, Vol 18, Iss , Pp 1-7 (2017)
Extreme Event Attribution has raised increasing attention in climate science in the last years. It means to judge the extent to which certain weather-related extreme events have changed due to human influences on climate with probabilistic statements
Externí odkaz:
https://doaj.org/article/8c2e12c978cf41c7b1e7dd50a012e38e
Publikováno v:
European journal of medical genetics. 63(9)
Pathogenic variants in AIMP1 gene are rare causes of neurologic disorders. Homozygous frameshift and nonsense variants in AIMP1 have been described in severe neurodegenerative disease. This is the third report of a homozygous nonsense variant in AIMP
Autor:
Paul R. Mark, Katherine A. Bosanko, Vikas Bhambhani, Steven Sparagana, Laurie S. Sadler, Aisling R. Caffrey, Sixto García-Miñaur, Marilyn C. Jones, Douglas M. Smith, Andrea H. Seeley, Ann Oostra, Donna M. Martin, Marieke F. van Dooren, Melissa Lees, Melanie A. Manning, Meena Balasubramanian, Adeline Vanderver, Valeria Orlando, Maria Lisa Dentici, Ariel Brautbar, Elizabeth Roeder, Dorothy K. Grange, Jennifer L. Fish, Ralitza H. Gavrilova, Lot Snijders Blok, Jane Maclean, Marcelo Vargas, Suzanne I. M. Alsters, Daniela Melis, Lesley Turner, Eliana Kovitch, Yuri A. Zarate, Sakkubai Naidu, Lucía Spangenberg, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Mark H. Lipson, Hilde Van Esch, Maria Schwab, Víctor Raggio, Timothy James Maarup, Marc S. Williams, Jean P. Pfotenhauer, Rebecca O. Littlejohn, Bert Callewaert, Adnan Alsadah, Antonio Martinez-Monseny, Juvianee I. Estrada-Veras
Publikováno v:
Zarate, Y A, Bosanko, K A, Caffrey, A R, Bernstein, J A, Martin, D M, Williams, M S, Berry-Kravis, E M, Mark, P R, Manning, M A, Bhambhani, V, Vargas, M, Seeley, A H, Estrada-Veras, J I, van Dooren, M F, Schwab, M, Vanderver, A, Melis, D, Alsadah, A, Sadler, L, Van Esch, H, Callewaert, B, Oostra, A, Maclean, J, Dentici, M L, Orlando, V, Lipson, M, Sparagana, S P, Maarup, T J, Alsters, S I M, Brautbar, A, Kovitch, E, Naidu, S, Lees, M, Smith, D M, Turner, L, Raggio, V, Spangenberg, L, Garcia-Miñaúr, S, Roeder, E R, Littlejohn, R O, Grange, D, Pfotenhauer, J, Jones, M C, Balasubramanian, M, Martinez-Monseny, A, Blok, L S, Gavrilova, R & Fish, J L 2019, ' Mutation update for the SATB2 gene ', Human Mutation, vol. 40, no. 8, pp. 1013-1029 . https://doi.org/10.1002/humu.23771
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Human Mutation, 40, 8, pp. 1013-1029
Human Mutation, 40(8), 1013-1029. Wiley-Liss Inc.
Human Mutation, 40, 1013-1029
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Human Mutation, 40, 8, pp. 1013-1029
Human Mutation, 40(8), 1013-1029. Wiley-Liss Inc.
Human Mutation, 40, 1013-1029
SATB2-associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of published pathogenic variants in the SATB2 gene to date and report 38 novel alterations found in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e618cf5dc8d5560df1a89aab788c591
https://research.vumc.nl/en/publications/a015dcda-8599-43e0-a2f4-230f413d8e17
https://research.vumc.nl/en/publications/a015dcda-8599-43e0-a2f4-230f413d8e17
Publikováno v:
In vivo (Athens, Greece). 32(6)
Background/Aim: Since the advent of targeted therapeutics, paradigms in metastatic renal cell carcinoma (mRCC) treatment have changed. We investigated if efficacy and safety data from randomized controlled trials can be transferred into real-world se
Publikováno v:
Weather and Climate Extremes
Weather and Climate Extremes, Elsevier, 2017, 18, pp.1-7. ⟨10.1016/j.wace.2017.09.001⟩
Weather and Climate Extremes, Vol 18, Iss, Pp 1-7 (2017)
BASE-Bielefeld Academic Search Engine
Weather and Climate Extremes, Elsevier, 2017, 18, pp.1-7. ⟨10.1016/j.wace.2017.09.001⟩
Weather and Climate Extremes, Vol 18, Iss, Pp 1-7 (2017)
BASE-Bielefeld Academic Search Engine
International audience; Extreme Event Attribution has raised increasing attention in climate science in the last years. It means to judge the extent to which certain weather-related extreme events have changed due to human influences on climate with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7db96966cc875f8946124ad6574ce124
https://hal.archives-ouvertes.fr/hal-01872741
https://hal.archives-ouvertes.fr/hal-01872741
Publikováno v:
New Directions for Evaluation. 2015:37-48
Responding to recently identified challenges in the comprehensive evaluation of climate change adaptation, we suggest an assessment framework that incorporates a multidisciplinary viewpoint on adaptation. The framework combines three major components
Publikováno v:
American journal of speech-language pathology. 27(3S)
Purpose Covert stuttering is a type of stuttering experience that occurs when a person who stutters conceals his or her stutter from others, attempting to be perceived as a nonstuttering individual. A person who covertly stutters experiences the cogn
Autor:
Hans von Storch, Maria Schwab
Publikováno v:
Meteorology Hydrology and Water Management.
Autor:
Georg-Maria Schwab
Dieser Buchtitel ist Teil des Digitalisierungsprojekts Springer Book Archives mit Publikationen, die seit den Anfängen des Verlags von 1842 erschienen sind. Der Verlag stellt mit diesem Archiv Quellen für die historische wie auch die disziplingesch
Autor:
Georg-Maria Schwab
Dieser Buchtitel ist Teil des Digitalisierungsprojekts Springer Book Archives mit Publikationen, die seit den Anfängen des Verlags von 1842 erschienen sind. Der Verlag stellt mit diesem Archiv Quellen für die historische wie auch die disziplingesch