Results 171 to 180 of about 39,855 (249)

Associations between measures of oestrogen exposure and severity of Fuchs endothelial corneal dystrophy. [PDF]

BMJ Open Ophthalmol
Petrela RB, Chhetri CD, Najafi A, Zhang Z, A Rinkoski T, Wieben ED, Fautsch MP, Chakraborty S, E Millen A, Patel SP.   +9 more
europepmc   +1 more source

Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia. [PDF]

Brain Sci
Sartorelli J, Pomponi MG, Garone G, Vasco G, Cumbo F, Colona VL, D'Amico A, Bertini E, Nicita F.   +8 more
europepmc   +1 more source

Aberrant Short Tandem Repeats: Pathogenicity, Mechanisms, Detection, and Roles in Neuropsychiatric Disorders. [PDF]

Genes (Basel)
Liu Y, Xia K.
europepmc   +1 more source

P610: Identification of trinucleotide repeat expansions in DMPK using rapid whole genome sequencing [PDF]

Lucia Guidugli, Monia Hammer, Bryant Cao, Joseph Shen, Daniel Rito, Claire Botsford, David Chitayat, Jerica Lenberg, Kristen Wigby, Kelly Watkins, Stephen F. Kingsmore, Mari Tokita   +11 more
openalex   +1 more source

Parental diagnostic delay and developmental outcomes in congenital and childhood-onset myotonic dystrophy type 1. [PDF]

Dev Med Child Neurol
Trucco F, Albamonte E, Pane M, Ricci F, D'amico A, Astrea G, Moroni I, Pini A, Fiorillo C, Berardinelli A, Johnson NE, Sansone VA, DM1 Paediatric Working Group.   +12 more
europepmc   +1 more source

EXPANSION OF TRINUCLEOTIDE REPEATS IN HUMAN DNA AND MOLECULAR DIAGNOSIS OF TRINUCLEOTIDE EXPANSION DISORDERS: INTEGRATIVE REVIEW

André Luiz Pedrosa, Leoncio Rabelo Borges Filho   +1 more
openalex   +2 more sources

When repetita no-longer iuvant: somatic instability of the CAG triplet in Huntington's disease. [PDF]

Nucleic Acids Res
Cattaneo E, Scalzo D, Zobel M, Iennaco R, Maffezzini C, Besusso D, Maestri S.   +6 more
europepmc   +1 more source

Genome-Wide Microsatellite Characterization and Molecular Marker Development of Himalayan Griffon (<i>Gyps himalayensis</i>). [PDF]

Animals (Basel)
Guo W, Ke D, Wang C, Fan H.
europepmc   +1 more source

Repeat expansion disorders. [PDF]

Pract Neurol
Chen Z, Morris HR, Polke J, Wood NW, Gandhi S, Ryten M, Houlden H, Tucci A.   +7 more
europepmc   +1 more source

Genome-Wide Microsatellites in Acanthopagrus latus: Development, Distribution, Characterization, and Polymorphism. [PDF]

Animals (Basel)
Peng C, Luo C, Xiang G, Huang J, Shao L, Huang H, Fan S.   +6 more
europepmc   +1 more source