Results 161 to 170 of about 948,823 (313)
Documenting genomics: Applying archival theory to preserving the records of the Human Genome Project. [PDF]
Stud Hist Philos Biol Biomed Sci, 2016 Shaw J.
europepmc +1 more source
The Human Genome Project as a Singular Episode in the History of Genomics [PDF]
, 2022 Miguel García-Sancho +5 more
openalex +1 more source
HPDL Variant Type Correlates With Clinical Disease Onset and Severity
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee +19 more
wiley +1 more source
Has the Human Genome Project Delivered for Healthcare? [PDF]
Ann Med Surg (Lond), 2012 Sivam V.
europepmc +1 more source
“The Bare Replacement”: Geneticists’ and Bioethicists Support of Eugenics, from after the Second World War to the Human Genome Project [PDF]
, 2023 Christopher Donohue
openalex +1 more source
KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini +24 more
wiley +1 more source
The 1% gift to humanity: The Human Genome Project II. [PDF]
Cell ResLiu W +20 more
europepmc +1 more source