Results 271 to 280 of about 1,239,617 (330)

Functionally cured chronic hepatitis B: A cure-related occult HBV infection state. [PDF]

mLife
Lu F, Zheng X, Du X, Ye X, Liu Y, Zeng J, Yan Y.   +6 more
europepmc   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Supplemental Figures for "Meiotic double strand DNA breaks and spontaneous mutation in Drosophila melanogaster"

Melde, Robert, Daigle, Austin, Sharp, Nathaniel   +2 more
openalex   +1 more source

Structural variants are enriched in deleterious visible phenotypes in <i>Drosophila</i>. [PDF]

Genome Res
Samano A, Musat M, Junaghare M, Ahmad A, Ali M, Alves S, Pasupuleti S, Perera J, Saada O, Sabido B, Smith T, Walz S, Chakraborty M.   +12 more
europepmc   +1 more source

Constrained RNA polymerase mutational pathways distinguish corallopyronin A resistance from rifampicin resistance in staphylococci. [PDF]

Sci Rep
Karačić J, Karačić S, Grosse M, Schiefer A, Pfarr K, Schneider T, Schneider T, Hoerauf A, Bierbaum G.   +8 more
europepmc   +1 more source

Modeling rare melanoma subtypes: mechanisms, microenvironments and translational opportunities. [PDF]

Front Oncol
Meng Q, Yan F, You C, Xu R, Jing T, Ni D, Hou C, Xu D, Liu S, Guo F, Li Z, Ran R, Liang W.   +12 more
europepmc   +1 more source

Spontaneous Coronary Artery Dissection with Elevated Homocysteine – A Call for Surveillance in Patients with the MTHFR Mutation

American Medical Association 2025, Patel, Jay   +1 more
openalex   +1 more source

Spontaneous spinal CSF leaks: a rare variant exome sequencing study and functional analysis.

Lancet Neurol
Parks CA, Singh M, Wohler E, Martin R, Peeters S, Juzwiak EE, Sun X, Loeys BL, Sobreira N, Baldock C, Schievink WI, Dietz HC.   +11 more
europepmc   +1 more source

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The nature of spontaneous mutations

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 1989
The induction of mutations is often expressed in relation to spontaneous mutations and designated for instance by the doubling-dose concept. A problem in that context is the fact that the mutational spectrum for spontaneous and induced mutations is not the same and it can furthermore vary considerably between loci.
C Ramel
exaly   +3 more sources

Estimation of Spontaneous Mutation Rates

Biometrics, 2003
Summary. Spontaneous or randomly occurring mutations play a key role in cancer progression. Estimation of the mutation rate of cancer cells can provide useful information about the disease. To ascertain these mutation rates, we need mathematical models that describe the distribution of mutant cells.
Natarajan, Loki, Berry, Charles C., Gasche, Christoph   +2 more
openaire   +3 more sources