Mutation analysis in patients with the typical form of Anderson-Fabry disease

The effects of pasteurization on caseinate-based edible film solutions.

Journal of dairy science·2026

Cortical bone continuum damage mechanics constitutive model with stress triaxiality criterion to predict fracture initiation and pattern.

Frontiers in bioengineering and biotechnology·2022

Methodology to geometrically age human body models to average and subject-specific anthropometrics, demonstrated using a small stature female model assessed in a side impact.

Computer methods in biomechanics and biomedical engineering·2022

Animal medical genetics: a historical perspective on more than 50 years of research into genetic disorders of animals at Massey University.

New Zealand veterinary journal·2021

ICMSF Methods Studies. XV. Comparison of Four Media and Methods for Enumerating Staphylococcus aureus in Powdered Milk.

Journal of food protection·2019

Recovery of Fecal Coliforms and of Escherichia coli at 44.5, 45.0 and 45.5°C.

Journal of food protection·2019

Prevalence and mechanistic origins of genome-wide ploidy abnormalities in ICSI derived human preimplantation embryos.

Human molecular genetics·2026

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

Human molecular genetics·2026

In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

Human molecular genetics·2026

A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.

Human molecular genetics·2026

BIN1 overexpression rescues cardiac but not skeletal muscle defects in a mouse model of caveolinopathy.

Human molecular genetics·2026

Unlocking the epigenetic code: future Frontiers in predictive biomarkers for intellectual disability in fragile X syndrome.

Human molecular genetics·2026

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next-Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana.

Pediatric blood & cancer·2026

Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism.

Frontiers in pediatrics·2026

Three-dimensional facial gestalt analysis for three neurodevelopmental disorders: Koolen-de Vries, Jansen-de Vries and KBG syndrome.

European journal of human genetics : EJHG·2026

Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women.

Annals of medicine·2026

Familial short stature: genetic architecture, risk stratification, and precision management.

Frontiers in endocrinology·2026

Shared genetic architecture between DTI-ALPS traits and neurodegenerative diseases.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026

Related Experiment Videos

Mutation analysis in patients with the typical form of Anderson-Fabry disease

Related Concept Videos

The effects of pasteurization on caseinate-based edible film solutions.

Cortical bone continuum damage mechanics constitutive model with stress triaxiality criterion to predict fracture initiation and pattern.

Methodology to geometrically age human body models to average and subject-specific anthropometrics, demonstrated using a small stature female model assessed in a side impact.

Animal medical genetics: a historical perspective on more than 50 years of research into genetic disorders of animals at Massey University.

ICMSF Methods Studies. XV. Comparison of Four Media and Methods for Enumerating Staphylococcus aureus in Powdered Milk.

Recovery of Fecal Coliforms and of Escherichia coli at 44.5, 45.0 and 45.5°C.

Prevalence and mechanistic origins of genome-wide ploidy abnormalities in ICSI derived human preimplantation embryos.

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.

BIN1 overexpression rescues cardiac but not skeletal muscle defects in a mouse model of caveolinopathy.

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A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next-Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana.

Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism.

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Related Experiment Videos

Mutation analysis in patients with the typical form of Anderson-Fabry disease

Related Concept Videos

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