The Wrinkly Skin Syndrome: a new heritable disorder of connective tissue

Deterioration of specific aspects of gait during the instrumented 6-min walk test among people with multiple sclerosis.

Journal of neurology·2019

A new approach to quantifying the EEG during walking: Initial evidence of gait related potentials and their changes with aging and dual tasking.

Experimental gerontology·2019

Effect of Organic Amendments on Soilborne and Foliar Diseases in Field-Grown Snap Bean and Cucumber.

Plant disease·2019

Age-associated changes in obstacle negotiation strategies: Does size and timing matter?

Gait & posture·2017

Triple paternal contribution to a normal/complete molar chimeric singleton placenta.

Human reproduction (Oxford, England)·2017

In situ detection of early replication phases of a gemini virus in legume protoplasts.

Plant cell reports·2013

Analysis of Genomic Testing of Congenital Heart Disease in a Cohort From a Consanguineous Population.

Clinical genetics·2026

A Homozygous ALCAM-CBLB Deletion at 3q13.11-q13.12 Defines a Candidate Novel Oculo-Skeletal-Immune Contiguous Gene Deletion Syndrome.

Clinical genetics·2026

Two Truncating MITF Variants Expand the Phenotypic Spectrum of COMMAD Syndrome.

Clinical genetics·2026

Compound-Heterozygous PLVAP Missense Variants Associated With Attenuated Protein-Losing Enteropathy (DIAR10).

Clinical genetics·2026

A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.

Clinical genetics·2026

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult-Onset Primary Lateral Sclerosis-Like Syndrome.

Clinical genetics·2026

Whole-Exome Sequencing Reveals the Genetic Landscape and Genotype-Phenotype Spectrum of Dystonia in a Chinese Cohort.

CNS neuroscience & therapeutics·2026

Genome-wide analysis of 439 mass spectrometry-based proteomic profiles in a population of 15,035 Scottish individuals.

Nature communications·2026

Generation of a human induced pluripotent stem cell line (PNUYHi004-A) from a patient with hereditary spastic paraplegia type 46 (SPG46) carrying compound heterozygous GBA2 variants.

Stem cell research·2026

Polygenic Risk Scores for Islet Autoantibody Positive Early-Stage Type 1 Diabetes Pre-Screening.

Diabetes, obesity & metabolism·2026

Allelic Architecture and Clinical Spectrum of RP1-Associated Retinal Dystrophies in a Multicenter Korean Cohort.

Investigative ophthalmology & visual science·2026

Related Experiment Videos

The Wrinkly Skin Syndrome: a new heritable disorder of connective tissue

Related Concept Videos

Deterioration of specific aspects of gait during the instrumented 6-min walk test among people with multiple sclerosis.

A new approach to quantifying the EEG during walking: Initial evidence of gait related potentials and their changes with aging and dual tasking.

Effect of Organic Amendments on Soilborne and Foliar Diseases in Field-Grown Snap Bean and Cucumber.

Age-associated changes in obstacle negotiation strategies: Does size and timing matter?

Triple paternal contribution to a normal/complete molar chimeric singleton placenta.

In situ detection of early replication phases of a gemini virus in legume protoplasts.

Analysis of Genomic Testing of Congenital Heart Disease in a Cohort From a Consanguineous Population.

A Homozygous ALCAM-CBLB Deletion at 3q13.11-q13.12 Defines a Candidate Novel Oculo-Skeletal-Immune Contiguous Gene Deletion Syndrome.

Two Truncating MITF Variants Expand the Phenotypic Spectrum of COMMAD Syndrome.

Compound-Heterozygous PLVAP Missense Variants Associated With Attenuated Protein-Losing Enteropathy (DIAR10).

A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult-Onset Primary Lateral Sclerosis-Like Syndrome.

Whole-Exome Sequencing Reveals the Genetic Landscape and Genotype-Phenotype Spectrum of Dystonia in a Chinese Cohort.

Genome-wide analysis of 439 mass spectrometry-based proteomic profiles in a population of 15,035 Scottish individuals.

Generation of a human induced pluripotent stem cell line (PNUYHi004-A) from a patient with hereditary spastic paraplegia type 46 (SPG46) carrying compound heterozygous GBA2 variants.

Polygenic Risk Scores for Islet Autoantibody Positive Early-Stage Type 1 Diabetes Pre-Screening.

Allelic Architecture and Clinical Spectrum of RP1-Associated Retinal Dystrophies in a Multicenter Korean Cohort.

Related Experiment Videos

The Wrinkly Skin Syndrome: a new heritable disorder of connective tissue

Related Concept Videos

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