Fragile X and Rett syndromes in Puerto Rico

Quinacrine fluorescence and Giemsa banding in trisomy 22.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2014

Distichiasis-lymphedema syndrome and the Turner phenotype.

Boletin de la Asociacion Medica de Puerto Rico·1991

Focal dermal hypoplasia symdrome in a male.

Clinical genetics·1975

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

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Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Clinical genetics·2026

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Clinical genetics·2026

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Clinical genetics·2026

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

Clinical genetics·2026

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

Clinical genetics·2026

Pressure-Induced Metal-like Transport and Magnetoresistance in a Au2+-Au3+ Halide Perovskite.

ACS central science·2026

Universal Supercritical Thermodynamics for Black Holes.

Research (Washington, D.C.)·2026

Wafer-Scale Hyper-Porous Graphene Network With Intrinsic Ferromagnetism at Room-Temperature.

Advanced materials (Deerfield Beach, Fla.)·2026

Multiband condensate of magnons in two dimensions.

Proceedings of the National Academy of Sciences of the United States of America·2026

Unfolding the structural insights, magnetic features and magnetocaloric performance of Gd2FeCrO6 nanoparticles.

Physical chemistry chemical physics : PCCP·2026

Enhanced Room-Temperature Phosphorescence from Carbon Dots Embedded in a Robust SiO2 Matrix.

ACS omega·2026

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Fragile X and Rett syndromes in Puerto Rico

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Quinacrine fluorescence and Giemsa banding in trisomy 22.

Distichiasis-lymphedema syndrome and the Turner phenotype.

Focal dermal hypoplasia symdrome in a male.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

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