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UnknownA Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population.
Not available
S-EPMC6826351 | biostudies-literature
UnknownA new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
Not available
S-EPMC1051219 | biostudies-literature
UnknownConserving tropical tree diversity and forest structure: the value of small rainforest patches in moderately-managed landscapes.
Not available
S-EPMC4047051 | biostudies-literature
UnknownNew insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.
Not available
S-EPMC6825870 | biostudies-literature
UnknownSomatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.
Not available
S-EPMC11220145 | biostudies-literature
UnknownWeaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
Not available
S-EPMC4832389 | biostudies-literature
UnknownClinical Impact of the COVID-19 Pandemic in Mexican Patients with Thoracic Malignancies.
Not available
S-EPMC8649017 | biostudies-literature
UnknownDiagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Not available
S-EPMC8901178 | biostudies-literature
UnknownSpanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.
Not available
S-EPMC9990985 | biostudies-literature
UnknownInter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
Not available
S-EPMC4291246 | biostudies-literature
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