Showing results (21-30 of 28) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 28 results.
Human Genetics|March 20, 2009
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)André B P van Kuilenburg, Judith Meijer, Adri N P M Mul, et al.
JCO Precision Oncology|May 6, 2024
Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare <i>DPYD</i> VariantsAndré B P van Kuilenburg, Marjolein C H Pleunis-van Empel, Rick B Brouwer, et al.
European Journal of Human Genetics : EJHG|May 13, 2010
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndromeVeronica Parri, Eleni Katzaki, Vera Uliana, et al.
Journal of Medical Genetics|October 2, 2015
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patientsMarcella Zollino, Giuseppe Marangi, Emanuela Ponzi, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 27, 2022
The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacyBernd Wissinger, Britta Baumann, Elena Buena-Atienza, et al.
JAMA|November 19, 2009
Clinical and mutational spectrum of neurofibromatosis type 1-like syndromeLudwine Messiaen, Suxia Yao, Hilde Brems, et al.
The Journal of Clinical Endocrinology and Metabolism|December 14, 2011
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiencyNils Krone, Nicole Reisch, Jan Idkowiak, et al.
American Journal of Medical Genetics. Part A|January 22, 2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, et al.
Pageof 3