Results 201 to 210 of about 132,265 (338)

Exploring the synergy between telomere length and genomic complexity in CLL

open access: yes
British Journal of Haematology, EarlyView.
Silvia Ramos‐Campoy   +19 more
wiley   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

open access: yesClinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum   +13 more
wiley   +1 more source

Allogeneic stem cell transplantation in chronic myelomonocytic leukemia: analysis of post-transplant survival and risk factors in 138 Mayo Clinic patients. [PDF]

open access: yesBlood Cancer J
Alsugair A   +26 more
europepmc   +1 more source

Concise Review: Molecular Cytogenetics and Quality Control: Clinical Guardians for Pluripotent Stem Cells [PDF]

open access: gold, 2018
Leili Rohani   +5 more
openalex   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

open access: yesClinical Genetics, EarlyView.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald   +10 more
wiley   +1 more source

Improvement in survival of patients with higher risk but not lower risk myelodysplastic syndromes over 20 years: A retrospective study from Nagasaki, Japan

open access: yes
British Journal of Haematology, EarlyView.
Takafumi Furumoto   +19 more
wiley   +1 more source

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