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American Journal of Human Genetics
|
January 20, 2015
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
Saskia B Wortmann, Szymon Ziętkiewicz, Maria Kousi, et al.
American Journal of Human Genetics
|
November 3, 2015
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
Celia Zazo Seco, Luciana Serrão de Castro, Josephine W van Nierop, et al.
International Journal of Cancer
|
January 30, 2019
One-carbon metabolism biomarkers and risk of urothelial cell carcinoma in the European prospective investigation into cancer and nutrition
Alina Vrieling, H Bas Bueno-De-Mesquita, Martine M Ros, et al.
Genome Medicine
|
August 15, 2024
Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD
Jonathan E Knikman, Qinglian Zhai, Carin A T C Lunenburg, et al.
Blood Advances
|
October 13, 2020
Midostaurin in patients with acute myeloid leukemia and FLT3-TKD mutations: a subanalysis from the RATIFY trial
Maria Teresa Voso, Richard A Larson, Dan Jones, et al.
Blood
|
April 30, 2020
SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS
Luca Malcovati, Kristen Stevenson, Elli Papaemmanuil, et al.
Blood
|
December 12, 2019
Impact of NPM1/FLT3-ITD genotypes defined by the 2017 European LeukemiaNet in patients with acute myeloid leukemia
Konstanze Döhner, Christian Thiede, Nikolaus Jahn, et al.
Science Translational Medicine
|
August 31, 2022
Gut microbiome dysbiosis is associated with increased mortality after solid organ transplantation
J Casper Swarte, Yanni Li, Shixian Hu, et al.
Blood Advances
|
October 12, 2021
The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11
Marina Lafage-Pochitaloff, Bastien Gerby, Véronique Baccini, et al.
Brain : a Journal of Neurology
|
January 27, 2025
Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes
Fahri Küçükali, Elizabeth Hill, Tijs Watzeels, et al.
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of 109
Search research articles
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Showing results (991-1000 of 1,087) with videos related to
Sort By:
Page
of 109
American Journal of Human Genetics
|
January 20, 2015
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
Saskia B Wortmann, Szymon Ziętkiewicz, Maria Kousi, et al.
American Journal of Human Genetics
|
November 3, 2015
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
Celia Zazo Seco, Luciana Serrão de Castro, Josephine W van Nierop, et al.
International Journal of Cancer
|
January 30, 2019
One-carbon metabolism biomarkers and risk of urothelial cell carcinoma in the European prospective investigation into cancer and nutrition
Alina Vrieling, H Bas Bueno-De-Mesquita, Martine M Ros, et al.
Genome Medicine
|
August 15, 2024
Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD
Jonathan E Knikman, Qinglian Zhai, Carin A T C Lunenburg, et al.
Blood Advances
|
October 13, 2020
Midostaurin in patients with acute myeloid leukemia and FLT3-TKD mutations: a subanalysis from the RATIFY trial
Maria Teresa Voso, Richard A Larson, Dan Jones, et al.
Blood
|
April 30, 2020
SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS
Luca Malcovati, Kristen Stevenson, Elli Papaemmanuil, et al.
Blood
|
December 12, 2019
Impact of NPM1/FLT3-ITD genotypes defined by the 2017 European LeukemiaNet in patients with acute myeloid leukemia
Konstanze Döhner, Christian Thiede, Nikolaus Jahn, et al.
Science Translational Medicine
|
August 31, 2022
Gut microbiome dysbiosis is associated with increased mortality after solid organ transplantation
J Casper Swarte, Yanni Li, Shixian Hu, et al.
Blood Advances
|
October 12, 2021
The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11
Marina Lafage-Pochitaloff, Bastien Gerby, Véronique Baccini, et al.
Brain : a Journal of Neurology
|
January 27, 2025
Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes
Fahri Küçükali, Elizabeth Hill, Tijs Watzeels, et al.
Page
of 109