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Wyszukujesz frazę ""American Journal of Human Genetics"" wg kryterium: JN


Tytuł :
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Autorzy :
Lemire, Gabrielle (AUTHOR)
Ito, Yoko A. (AUTHOR)
Marshall, Aren E. (AUTHOR)
Chrestian, Nicolas (AUTHOR)
Stanley, Valentina (AUTHOR)
Brady, Lauren (AUTHOR)
Tarnopolsky, Mark (AUTHOR)
Curry, Cynthia J. (AUTHOR)
Hartley, Taila (AUTHOR)
Mears, Wendy (AUTHOR)
Derksen, Alexa (AUTHOR)
Rioux, Nadie (AUTHOR)
Laflamme, Nataly (AUTHOR)
Hutchison, Harrol T. (AUTHOR)
Pais, Lynn S. (AUTHOR)
Zaki, Maha S. (AUTHOR)
Sultan, Tipu (AUTHOR)
Dane, Adrie D. (AUTHOR)
Gleeson, Joseph G. (AUTHOR)
Vaz, Frédéric M. (AUTHOR)
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Źródło :
American Journal of Human Genetics. Oct2021, Vol. 108 Issue 10, p2017-2023. 7p.
Czasopismo naukowe
Tytuł :
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Autorzy :
Caputo, Sandrine M. (AUTHOR)
Golmard, Lisa (AUTHOR)
Léone, Mélanie (AUTHOR)
Damiola, Francesca (AUTHOR)
Guillaud-Bataille, Marine (AUTHOR)
Revillion, Françoise (AUTHOR)
Rouleau, Etienne (AUTHOR)
Derive, Nicolas (AUTHOR)
Buisson, Adrien (AUTHOR)
Basset, Noémie (AUTHOR)
Schwartz, Mathias (AUTHOR)
Vilquin, Paul (AUTHOR)
Garrec, Celine (AUTHOR)
Privat, Maud (AUTHOR)
Gay-Bellile, Mathilde (AUTHOR)
Abadie, Caroline (AUTHOR)
Abidallah, Khadija (AUTHOR)
Airaud, Fabrice (AUTHOR)
Allary, Anne-Sophie (AUTHOR)
Barouk-Simonet, Emmanuelle (AUTHOR)
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Źródło :
American Journal of Human Genetics. Oct2021, Vol. 108 Issue 10, p1907-1923. 17p.
Czasopismo naukowe
Tytuł :
A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer.
Autorzy :
Jermusyk, Ashley (AUTHOR)
Zhong, Jun (AUTHOR)
Connelly, Katelyn E. (AUTHOR)
Gordon, Naomi (AUTHOR)
Perera, Sumeth (AUTHOR)
Abdolalizadeh, Ehssan (AUTHOR)
Zhang, Tongwu (AUTHOR)
O'Brien, Aidan (AUTHOR)
Hoskins, Jason W. (AUTHOR)
Collins, Irene (AUTHOR)
Eiser, Daina (AUTHOR)
Yuan, Chen (AUTHOR)
Risch, Harvey A. (AUTHOR)
Jacobs, Eric J. (AUTHOR)
Li, Donghui (AUTHOR)
Du, Mengmeng (AUTHOR)
Stolzenberg-Solomon, Rachael Z. (AUTHOR)
Klein, Alison P. (AUTHOR)
Smith, Jill P. (AUTHOR)
Wolpin, Brian M. (AUTHOR)
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Źródło :
American Journal of Human Genetics. Oct2021, Vol. 108 Issue 10, p1852-1865. 14p.
Czasopismo naukowe
Tytuł :
Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome.
Autorzy :
Mahyari, Eisa (AUTHOR)
Guo, Jingtao (AUTHOR)
Lima, Ana C. (AUTHOR)
Lewinsohn, Daniel P. (AUTHOR)
Stendahl, Alexandra M. (AUTHOR)
Vigh-Conrad, Katinka A. (AUTHOR)
Nie, Xichen (AUTHOR)
Nagirnaja, Liina (AUTHOR)
Rockweiler, Nicole B. (AUTHOR)
Carrell, Douglas T. (AUTHOR)
Hotaling, James M. (AUTHOR)
Aston, Kenneth I. (AUTHOR)
Conrad, Donald F. (AUTHOR)
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Źródło :
American Journal of Human Genetics. Oct2021, Vol. 108 Issue 10, p1924-1945. 22p.
Czasopismo naukowe
Tytuł :
An integrated approach to identify environmental modulators of genetic risk factors for complex traits.
Autorzy :
Balliu, Brunilda (AUTHOR)
Carcamo-Orive, Ivan (AUTHOR)
Gloudemans, Michael J. (AUTHOR)
Nachun, Daniel C. (AUTHOR)
Durrant, Matthew G. (AUTHOR)
Gazal, Steven (AUTHOR)
Park, Chong Y. (AUTHOR)
Knowles, David A. (AUTHOR)
Wabitsch, Martin (AUTHOR)
Quertermous, Thomas (AUTHOR)
Knowles, Joshua W. (AUTHOR)
Montgomery, Stephen B. (AUTHOR)
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Źródło :
American Journal of Human Genetics. Oct2021, Vol. 108 Issue 10, p1866-1879. 14p.
Czasopismo naukowe
Tytuł :
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
Autorzy :
Qiao, Lu (AUTHOR)
Xu, Le (AUTHOR)
Yu, Lan (AUTHOR)
Wynn, Julia (AUTHOR)
Hernan, Rebecca (AUTHOR)
Zhou, Xueya (AUTHOR)
Farkouh-Karoleski, Christiana (AUTHOR)
Krishnan, Usha S. (AUTHOR)
Khlevner, Julie (AUTHOR)
De, Aliva (AUTHOR)
Zygmunt, Annette (AUTHOR)
Crombleholme, Timothy (AUTHOR)
Lim, Foong-Yen (AUTHOR)
Needelman, Howard (AUTHOR)
Cusick, Robert A. (AUTHOR)
Mychaliska, George B. (AUTHOR)
Warner, Brad W. (AUTHOR)
Wagner, Amy J. (AUTHOR)
Danko, Melissa E. (AUTHOR)
Chung, Dai (AUTHOR)
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Źródło :
American Journal of Human Genetics. Oct2021, Vol. 108 Issue 10, p1964-1980. 17p.
Czasopismo naukowe
Tytuł :
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Autorzy :
Mitani, Tadahiro (AUTHOR)
Isikay, Sedat (AUTHOR)
Gezdirici, Alper (AUTHOR)
Gulec, Elif Yilmaz (AUTHOR)
Punetha, Jaya (AUTHOR)
Fatih, Jawid M. (AUTHOR)
Herman, Isabella (AUTHOR)
Akay, Gulsen (AUTHOR)
Du, Haowei (AUTHOR)
Calame, Daniel G. (AUTHOR)
Ayaz, Akif (AUTHOR)
Tos, Tulay (AUTHOR)
Yesil, Gozde (AUTHOR)
Aydin, Hatip (AUTHOR)
Geckinli, Bilgen (AUTHOR)
Elcioglu, Nursel (AUTHOR)
Candan, Sukru (AUTHOR)
Sezer, Ozlem (AUTHOR)
Erdem, Haktan Bagis (AUTHOR)
Gul, Davut (AUTHOR)
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Źródło :
American Journal of Human Genetics. Oct2021, Vol. 108 Issue 10, p1981-2005. 25p.
Czasopismo naukowe
Tytuł :
Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program.
Autorzy :
Mikhaylova, Anna V. (AUTHOR)
McHugh, Caitlin P. (AUTHOR)
Polfus, Linda M. (AUTHOR)
Raffield, Laura M. (AUTHOR)
Boorgula, Meher Preethi (AUTHOR)
Blackwell, Thomas W. (AUTHOR)
Brody, Jennifer A. (AUTHOR)
Broome, Jai (AUTHOR)
Chami, Nathalie (AUTHOR)
Chen, Ming-Huei (AUTHOR)
Conomos, Matthew P. (AUTHOR)
Cox, Corey (AUTHOR)
Curran, Joanne E. (AUTHOR)
Daya, Michelle (AUTHOR)
Ekunwe, Lynette (AUTHOR)
Glahn, David C. (AUTHOR)
Heard-Costa, Nancy (AUTHOR)
Highland, Heather M. (AUTHOR)
Hobbs, Brian D. (AUTHOR)
Ilboudo, Yann (AUTHOR)
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Źródło :
American Journal of Human Genetics. Oct2021, Vol. 108 Issue 10, p1836-1851. 16p.
Czasopismo naukowe
Tytuł :
Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.
Autorzy :
Kachuri, Linda (AUTHOR)
Jeon, Soyoung (AUTHOR)
DeWan, Andrew T. (AUTHOR)
Metayer, Catherine (AUTHOR)
Ma, Xiaomei (AUTHOR)
Witte, John S. (AUTHOR)
Chiang, Charleston W.K. (AUTHOR)
Wiemels, Joseph L. (AUTHOR)
de Smith, Adam J. (AUTHOR)
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Źródło :
American Journal of Human Genetics. Oct2021, Vol. 108 Issue 10, p1823-1835. 13p.
Czasopismo naukowe
Tytuł :
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Autorzy :
Richard, Elodie M. (AUTHOR)
Bakhtiari, Somayeh (AUTHOR)
Marsh, Ashley P.L. (AUTHOR)
Kaiyrzhanov, Rauan (AUTHOR)
Wagner, Matias (AUTHOR)
Shetty, Sheetal (AUTHOR)
Pagnozzi, Alex (AUTHOR)
Nordlie, Sandra M. (AUTHOR)
Guida, Brandon S. (AUTHOR)
Cornejo, Patricia (AUTHOR)
Magee, Helen (AUTHOR)
Liu, James (AUTHOR)
Norton, Bethany Y. (AUTHOR)
Webster, Richard I. (AUTHOR)
Worgan, Lisa (AUTHOR)
Hakonarson, Hakon (AUTHOR)
Li, Jiankang (AUTHOR)
Guo, Yiran (AUTHOR)
Jain, Mahim (AUTHOR)
Blesson, Alyssa (AUTHOR)
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Źródło :
American Journal of Human Genetics. Oct2021, Vol. 108 Issue 10, p2006-2016. 11p.
Czasopismo naukowe
Tytuł :
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Autorzy :
Marom, Ronit (AUTHOR)
Burrage, Lindsay C. (AUTHOR)
Venditti, Rossella (AUTHOR)
Clément, Aurélie (AUTHOR)
Blanco-Sánchez, Bernardo (AUTHOR)
Jain, Mahim (AUTHOR)
Scott, Daryl A. (AUTHOR)
Rosenfeld, Jill A. (AUTHOR)
Sutton, V. Reid (AUTHOR)
Shinawi, Marwan (AUTHOR)
Mirzaa, Ghayda (AUTHOR)
DeVile, Catherine (AUTHOR)
Roberts, Rowenna (AUTHOR)
Calder, Alistair D. (AUTHOR)
Allgrove, Jeremy (AUTHOR)
Grafe, Ingo (AUTHOR)
Lanza, Denise G. (AUTHOR)
Li, Xiaohui (AUTHOR)
Joeng, Kyu Sang (AUTHOR)
Lee, Yi-Chien (AUTHOR)
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Źródło :
American Journal of Human Genetics. Sep2021, Vol. 108 Issue 9, p1710-1724. 15p.
Czasopismo naukowe
Tytuł :
Position effects at the FGF8 locus are associated with femoral hypoplasia.
Autorzy :
Socha, Magdalena (AUTHOR)
Sowińska-Seidler, Anna (AUTHOR)
Melo, Uirá Souto (AUTHOR)
Kragesteen, Bjørt K. (AUTHOR)
Franke, Martin (AUTHOR)
Heinrich, Verena (AUTHOR)
Schöpflin, Robert (AUTHOR)
Nagel, Inga (AUTHOR)
Gruchy, Nicolas (AUTHOR)
Mundlos, Stefan (AUTHOR)
Sreenivasan, Varun K.A. (AUTHOR)
López, Cristina (AUTHOR)
Vingron, Martin (AUTHOR)
Bukowska-Olech, Ewelina (AUTHOR)
Spielmann, Malte (AUTHOR)
Jamsheer, Aleksander (AUTHOR)
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Źródło :
American Journal of Human Genetics. Sep2021, Vol. 108 Issue 9, p1725-1734. 10p.
Czasopismo naukowe
Tytuł :
Stratification of risk of progression to colectomy in ulcerative colitis via measured and predicted gene expression.
Autorzy :
Mo, Angela (AUTHOR)
Nagpal, Sini (AUTHOR)
Gettler, Kyle (AUTHOR)
Haritunians, Talin (AUTHOR)
Giri, Mamta (AUTHOR)
Haberman, Yael (AUTHOR)
Karns, Rebekah (AUTHOR)
Prince, Jarod (AUTHOR)
Arafat, Dalia (AUTHOR)
Hsu, Nai-Yun (AUTHOR)
Chuang, Ling-Shiang (AUTHOR)
Argmann, Carmen (AUTHOR)
Kasarskis, Andrew (AUTHOR)
Suarez-Farinas, Mayte (AUTHOR)
Gotman, Nathan (AUTHOR)
Mengesha, Emebet (AUTHOR)
Venkateswaran, Suresh (AUTHOR)
Rufo, Paul A. (AUTHOR)
Baker, Susan S. (AUTHOR)
Sauer, Cary G. (AUTHOR)
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Źródło :
American Journal of Human Genetics. Sep2021, Vol. 108 Issue 9, p1765-1779. 15p.
Czasopismo naukowe
Tytuł :
Patterns of genetic connectedness between modern and medieval Estonian genomes reveal the origins of a major ancestry component of the Finnish population.
Autorzy :
Kivisild, Toomas (AUTHOR)
Saag, Lehti (AUTHOR)
Hui, Ruoyun (AUTHOR)
Biagini, Simone Andrea (AUTHOR)
Pankratov, Vasili (AUTHOR)
D'Atanasio, Eugenia (AUTHOR)
Pagani, Luca (AUTHOR)
Saag, Lauri (AUTHOR)
Rootsi, Siiri (AUTHOR)
Mägi, Reedik (AUTHOR)
Metspalu, Ene (AUTHOR)
Valk, Heiki (AUTHOR)
Malve, Martin (AUTHOR)
Irdt, Kadri (AUTHOR)
Reisberg, Tuuli (AUTHOR)
Solnik, Anu (AUTHOR)
Scheib, Christiana L. (AUTHOR)
Seidman, Daniel N. (AUTHOR)
Williams, Amy L. (AUTHOR)
Tambets, Kristiina (AUTHOR)
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Źródło :
American Journal of Human Genetics. Sep2021, Vol. 108 Issue 9, p1792-1806. 15p.
Czasopismo naukowe
Tytuł :
Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis.
Autorzy :
Aygün, Nil (AUTHOR)
Elwell, Angela L. (AUTHOR)
Liang, Dan (AUTHOR)
Lafferty, Michael J. (AUTHOR)
Cheek, Kerry E. (AUTHOR)
Courtney, Kenan P. (AUTHOR)
Mory, Jessica (AUTHOR)
Hadden-Ford, Ellie (AUTHOR)
Krupa, Oleh (AUTHOR)
de la Torre-Ubieta, Luis (AUTHOR)
Geschwind, Daniel H. (AUTHOR)
Love, Michael I. (AUTHOR)
Stein, Jason L. (AUTHOR)
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Źródło :
American Journal of Human Genetics. Sep2021, Vol. 108 Issue 9, p1647-1668. 22p.
Czasopismo naukowe

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