Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network. [PDF]
Montenegro YHA +16 more
europepmc +1 more source
Reconstructing Sordida subcomplex (Hemiptera, Reduviidae, Triatominae) phylogeny across species distribution range. [PDF]
Burgueño-Rodríguez G +15 more
europepmc +1 more source
Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants. [PDF]
Llinares-Burguet I +12 more
europepmc +1 more source
A diverse satellite DNA repertoire in <i>Limnoperna fortunei</i>: insights into genome structure and chromosomal organization. [PDF]
Castro JP +5 more
europepmc +1 more source
Development of Molecular Tools to Identify the Avocado (<i>Persea americana</i>) <i>West-Indian</i> Horticultural Race and Its Hybrids. [PDF]
González Carracedo M +5 more
europepmc +1 more source
Editorial: Evolution, biochemistry and function of the dystroglycan-axis: from human diseases to model organisms. [PDF]
Beedle AM +3 more
europepmc +1 more source
A <i>de novo</i> variant of the <i>COL3A1</i> gene: causality of vascular Ehlers-Danlos syndrome. [PDF]
Gutiérrez Romero E +2 more
europepmc +1 more source
The complete mitochondrion genome of the Hoge's Side-necked turtle Ranacephala hogei (Chelidae), a critically endangered species from South America. [PDF]
Dumans AT +7 more
europepmc +1 more source
The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review. [PDF]
Robles-Espinoza K +3 more
europepmc +1 more source

