Enzymic diagnosis of the genetic mucopolysaccharide storage disorders

Preimplantation genetic testing with HLA matching: from counseling to birth and beyond.

Journal of human genetics·2020

Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡.

Human reproduction open·2019

Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.

Human reproduction (Oxford, England)·2019

Body composition and blood pressure in 6-year-old singletons born after pre-implantation genetic testing for monogenic and structural chromosomal aberrations: a matched cohort study.

Human reproduction open·2019

Expanding the clinical spectrum of biallelic ZNF335 variants.

Clinical genetics·2018

Recent developments in genetics and medically assisted reproduction: from research to clinical applications.

European journal of human genetics : EJHG·2017

Mechanistic insights on HDAC6 ZnF UBP-Tau interaction through biophysical and computational approaches.

Methods in enzymology·2026

Methodological frameworks to probe histone acetylation-driven circuit plasticity in SYNGAP1-associated neurodevelopmental disorders.

Methods in enzymology·2026

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Methods in enzymology·2026

Protocols for in vitro analysis of liquid-liquid phase separation of proteins.

Methods in enzymology·2026

Experimental approaches to study histone deacetylation in Caenorhabditis elegans.

Methods in enzymology·2026

Histone deacetylases: From acetylation homeostasis to oncogenic and neurodegenerative disorders.

Methods in enzymology·2026

Untargeted metabolomic comparison of breast muscle metabolites between Cobb broilers and local chicken breeds.

Poultry science·2026

Distinct metabolic phenotypes in adolescents with obesity identified by unsupervised learning: associations with insulin resistance and resting energy expenditure.

Frontiers in endocrinology·2026

Structures of mycobacterial 3-methylcrotonyl-CoA carboxylase reveal carrier-domain translocation between catalytic sites.

FEBS letters·2026

Endoscopic sleeve gastroplasty versus intragastric balloon insertion as bridge-to-surgery procedures for patients with BMI ≥50 kg/m2 or contraindications to primary metabolic bariatric surgery.

Therapeutic advances in gastroenterology·2026

Association between glycated hemoglobin and hematological parameters in patients with type 2 diabetes mellitus: a cross-sectional study.

Clinics (Sao Paulo, Brazil)·2026

Bioactive structural features of natural polysaccharides: Inspiration for novel polymer strategies against metabolic disorders.

Carbohydrate research·2026

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Enzymic diagnosis of the genetic mucopolysaccharide storage disorders

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Preimplantation genetic testing with HLA matching: from counseling to birth and beyond.

Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡.

Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.

Body composition and blood pressure in 6-year-old singletons born after pre-implantation genetic testing for monogenic and structural chromosomal aberrations: a matched cohort study.

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Recent developments in genetics and medically assisted reproduction: from research to clinical applications.

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Experimental approaches to study histone deacetylation in Caenorhabditis elegans.

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Distinct metabolic phenotypes in adolescents with obesity identified by unsupervised learning: associations with insulin resistance and resting energy expenditure.

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