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Wyszukujesz frazę ""AGE of onset"" wg kryterium: Temat


Wyświetlanie 1-20 z 20
Tytuł:
RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation.
Autorzy:
Rios, Jonathan J. (AUTHOR)
Li, Yang (AUTHOR)
Paria, Nandina (AUTHOR)
Bohlender, Ryan J. (AUTHOR)
Huff, Chad (AUTHOR)
Rosenfeld, Jill A. (AUTHOR)
Liu, Pengfei (AUTHOR)
Bi, Weimin (AUTHOR)
Haga, Kentaro (AUTHOR)
Fukuda, Mitsunori (AUTHOR)
Vashisth, Shayal (AUTHOR)
Kaur, Kiran (AUTHOR)
Chahrour, Maria H. (AUTHOR)
Bober, Michael B. (AUTHOR)
Duker, Angela L. (AUTHOR)
Ladha, Farah A. (AUTHOR)
Hanchard, Neil A. (AUTHOR)
Atala, Kristhen (AUTHOR)
Khanshour, Anas M. (AUTHOR)
Smith, Linsley (AUTHOR)
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Źródło:
American Journal of Human Genetics. Dec2023, Vol. 110 Issue 12, p2103-2111. 9p.
Czasopismo naukowe
Tytuł:
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Autorzy:
Cunha, Paulina (AUTHOR)
Petit, Emilien (AUTHOR)
Coutelier, Marie (AUTHOR)
Coarelli, Giulia (AUTHOR)
Mariotti, Caterina (AUTHOR)
Faber, Jennifer (AUTHOR)
Van Gaalen, Judith (AUTHOR)
Damasio, Joana (AUTHOR)
Fleszar, Zofia (AUTHOR)
Tosi, Michele (AUTHOR)
Rocca, Clarissa (AUTHOR)
De Michele, Giovanna (AUTHOR)
Minnerop, Martina (AUTHOR)
Ewenczyk, Claire (AUTHOR)
Santorelli, Filippo M. (AUTHOR)
Heinzmann, Anna (AUTHOR)
Bird, Thomas (AUTHOR)
Amprosi, Matthias (AUTHOR)
Indelicato, Elisabetta (AUTHOR)
Benussi, Alberto (AUTHOR)
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Źródło:
American Journal of Human Genetics. Jul2023, Vol. 110 Issue 7, p1098-1109. 12p.
Czasopismo naukowe
Tytuł:
Accounting for age of onset and family history improves power in genome-wide association studies.
Autorzy:
Pedersen, Emil M. (AUTHOR)
Agerbo, Esben (AUTHOR)
Plana-Ripoll, Oleguer (AUTHOR)
Grove, Jakob (AUTHOR)
Dreier, Julie W. (AUTHOR)
Musliner, Katherine L. (AUTHOR)
Bækvad-Hansen, Marie (AUTHOR)
Athanasiadis, Georgios (AUTHOR)
Schork, Andrew (AUTHOR)
Bybjerg-Grauholm, Jonas (AUTHOR)
Hougaard, David M. (AUTHOR)
Werge, Thomas (AUTHOR)
Nordentoft, Merete (AUTHOR)
Mors, Ole (AUTHOR)
Dalsgaard, Søren (AUTHOR)
Christensen, Jakob (AUTHOR)
Børglum, Anders D. (AUTHOR)
Mortensen, Preben B. (AUTHOR)
McGrath, John J. (AUTHOR)
Privé, Florian (AUTHOR)
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Źródło:
American Journal of Human Genetics. Mar2022, Vol. 109 Issue 3, p417-432. 16p.
Czasopismo naukowe
Tytuł:
Shifting landscapes of human MTHFR missense-variant effects.
Autorzy:
Weile, Jochen (AUTHOR)
Kishore, Nishka (AUTHOR)
Sun, Song (AUTHOR)
Maaieh, Ranim (AUTHOR)
Verby, Marta (AUTHOR)
Li, Roujia (AUTHOR)
Fotiadou, Iosifina (AUTHOR)
Kitaygorodsky, Julia (AUTHOR)
Wu, Yingzhou (AUTHOR)
Holenstein, Alexander (AUTHOR)
Bürer, Céline (AUTHOR)
Blomgren, Linnea (AUTHOR)
Yang, Shan (AUTHOR)
Nussbaum, Robert (AUTHOR)
Rozen, Rima (AUTHOR)
Watkins, David (AUTHOR)
Gebbia, Marinella (AUTHOR)
Kozich, Viktor (AUTHOR)
Garton, Michael (AUTHOR)
Froese, D. Sean (AUTHOR)
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Źródło:
American Journal of Human Genetics. Jul2021, Vol. 108 Issue 7, p1283-1300. 18p.
Czasopismo naukowe
Tytuł:
Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting.
Autorzy:
Gordon, Adam S. (AUTHOR)
Rosenthal, Elisabeth A. (AUTHOR)
Carrell, David S. (AUTHOR)
Amendola, Laura M. (AUTHOR)
Dorschner, Michael O. (AUTHOR)
Scrol, Aaron (AUTHOR)
Stanaway, Ian B. (AUTHOR)
DeVange, Shannon (AUTHOR)
Ralston, James D. (AUTHOR)
Zouk, Hana (AUTHOR)
Rehm, Heidi L. (AUTHOR)
Larson, Eric (AUTHOR)
Crosslin, David R. (AUTHOR)
Leppig, Kathy A. (AUTHOR)
Jarvik, Gail P. (AUTHOR)
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Temat:
COLON polyps
COLORECTAL cancer
ADENOMATOUS polyps
DISEASE prevalence
AGE of onset
Źródło:
American Journal of Human Genetics. Sep2019, Vol. 105 Issue 3, p526-533. 8p.
Czasopismo naukowe
Tytuł:
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
Autorzy:
Ferreira, Manuel A.R. (AUTHOR)
Mathur, Riddhima (AUTHOR)
Vonk, Judith M. (AUTHOR)
Szwajda, Agnieszka (AUTHOR)
Brumpton, Ben (AUTHOR)
Granell, Raquel (AUTHOR)
Brew, Bronwyn K. (AUTHOR)
Ullemar, Vilhelmina (AUTHOR)
Lu, Yi (AUTHOR)
Jiang, Yunxuan (AUTHOR)
Magnusson, Patrik K.E. (AUTHOR)
Karlsson, Robert (AUTHOR)
Hinds, David A. (AUTHOR)
Paternoster, Lavinia (AUTHOR)
Koppelman, Gerard H. (AUTHOR)
Almqvist, Catarina (AUTHOR)
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Temat:
HERITABILITY
GENETIC correlations
ASTHMA
AGE of onset
DISEASE risk factors
Źródło:
American Journal of Human Genetics. Apr2019, Vol. 104 Issue 4, p665-684. 20p.
Terminy geograficzne:
UNITED Kingdom
Czasopismo naukowe
Tytuł:
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.
Autorzy:
Yehia, Lamis
Niazi, Farshad
Ni, Ying
Ngeow, Joanne
Sankunny, Madhav
Liu, Zhigang
Wei, Wei
Mester, Jessica L.
Keri, Ruth A.
Zhang, Bin
Eng, Charis
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Temat:
HUMAN genetic variation
THYROID cancer patients
COWDEN syndrome
AGE of onset
GOLGI apparatus
Źródło:
American Journal of Human Genetics. Nov2015, Vol. 97 Issue 5, p661-676. 16p.
Czasopismo naukowe
    Wyświetlanie 1-20 z 20

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