Results 181 to 190 of about 19,593 (221)

Genomic Characterization and Phylogenetic Relationships of <i>Procypris rabaudi</i> Revealed by Whole-Genome Survey Analysis. [PDF]

Animals (Basel)
Han X, Luo R, Liu Q, Yuan Z, He W.
europepmc   +1 more source

Huntington's Disease: A Case Report of a Patient With a Positive Family History. [PDF]

Cureus
Nowakowski P, Waska G, Misztela-Lisiecka E, Miernik-Skrzypczak M, Strozak A.   +4 more
europepmc   +1 more source

Transcriptome analyses of human corneal endothelial cell lines derived from patients with Fuchs endothelial corneal dystrophy. [PDF]

Sci Rep
Ashraf S, Tone SO, Zhu S, Deshpande N, Cetinbas M, Hui H, Melangath G, Price MO, Price FW, Jurkunas UV.   +9 more
europepmc   +1 more source

Sudden Death Caused by Bilateral Diaphragmatic Eventration in Myotonic Dystrophy Type 1. [PDF]

Am J Forensic Med Pathol
Wu S, Prahlow JA.
europepmc   +1 more source

Small Molecule Modulation of APOBEC3A-Catalyzed Cytosine Deamination in CCG Repeat Deoxyribonucleic Acid via Stabilization of Hairpin Structures. [PDF]

Biochemistry
Zhang L, Shibata T, Murata A, Takashima Y, Nakatani K.   +4 more
europepmc   +1 more source

Assessment of Early Fuchs Endothelial Corneal Dystrophy and CTG Trinucleotide Expansion Positivity Using Scheimpflug Imaging. [PDF]

Ophthalmol Sci
Poh SSJ, Tey KY, Peh GSL, Neo DJH, Htoon HM, Lee EKL, Soh YQ, Mootha VV, Mehta JS.   +8 more
europepmc   +1 more source

Fifteen Years of Myotonic Dystrophy Type 1 in Mexico: Clinical, Molecular, and Socioeconomic Insights from a National Reference Cohort. [PDF]

Genes (Basel)
Cerecedo-Zapata CM, Guerra-Grajeda A, Márquez-Quiróz LC, Arciga-Portela P, Escobar-Cedillo RE, Jiménez-Gutiérrez GE, Pérez-Méndez ÓA, Velasco-Flores JS, Barredo-Prieto BA, Leyva-García N, Cisneros B, Murillo-Melo NM, Magaña JJ.   +12 more
europepmc   +1 more source

Lifetime risk of cancer in carriers of intermediate alleles in the HTT gene. [PDF]

Sci Rep
Sundblom J, Bergdahl I, Stattin EL, Niemelä V.   +3 more
europepmc   +1 more source

The Molecular Basis of the Fragile X Syndrome: expansion of a trinucleotide repeat, a new mutational mechanism

, 1994
Annemieke J.M.H. Verkerk
openalex   +1 more source