المؤلفون: Nieminen, Taina Tuulikki, Liyanarachchi, Sandya, Comiskey, Daniel F., Wang, Yanqiang, Li, Wei, Hendrickson, Isabella V., Brock, Pamela, de la Chapelle, Albert

المساهمون: Department of Medical and Clinical Genetics, Biosciences

مصطلحات موضوعية: Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: Nieminen , T T , Liyanarachchi , S , Comiskey , D F , Wang , Y , Li , W , Hendrickson , I V , Brock , P & de la Chapelle , A 2021 , ' A novel essential splice site variant in SPTB in a large hereditary spherocytosis family ' , Molecular Genetics & Genomic Medicine , vol. 9 , no. 5 , 1641 . https://doi.org/10.1002/mgg3.1641; http://hdl.handle.net/10138/339916; b4362a06-2f1f-4f0f-bd20-b3c2f9c01645; 000646669500001

الاتاحة: http://hdl.handle.net/10138/339916

المؤلفون: Nieminen, Taina T., Liyanarachchi, Sandya, Comiskey, Daniel F., Wang, Yanqiang, Li, Wei, Hendrickson, Isabella V., Brock, Pamela, de la Chapelle, Albert, He, Huiling

المساهمون: National Cancer Institute

المصدر: Molecular Genetics & Genomic Medicine ; volume 9, issue 5 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.1641
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1641
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.1641

المؤلفون: Comiskey Jr., Daniel Forrest, He, Huiling, Liyanarachchi, Sandya, Sheikh, Mehek S, Genutis, Luke K, Hendrickson, Isabella V, Yu, Lianbo, Brock, Pamela L, de la Chapelle, Albert

مصطلحات موضوعية: Cancer genetics

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/57/8/519; http://dx.doi.org/10.1136/jmedgenet-2019-106554

الاتاحة: http://jmg.bmj.com/cgi/content/short/57/8/519
https://doi.org/10.1136/jmedgenet-2019-106554

المؤلفون: Comiskey, Daniel F., He, Huiling, Liyanarachchi, Sandya, Sheikh, Mehek S., Hendrickson, Isabella V., Yu, Lianbo, Brock, Pamela L., de la Chapelle, Albert

المساهمون: National Cancer Institute

المصدر: Scientific Reports ; volume 10, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-020-76606-0
https://www.nature.com/articles/s41598-020-76606-0.pdf
https://www.nature.com/articles/s41598-020-76606-0

المؤلفون: Comiskey Jr., Daniel Forrest, He, Huiling, Liyanarachchi, Sandya, Sheikh, Mehek S, Genutis, Luke K, Hendrickson, Isabella V, Yu, Lianbo, Brock, Pamela L, de la Chapelle, Albert

المصدر: Journal of Medical Genetics (JMG); 2020, Vol. 57 Issue: 8 p519-527, 9p