Useful information about rare inherited disorders

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.

Genome research·2019

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.

Brain : a journal of neurology·2017

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.

PLoS genetics·2017

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

Brain : a journal of neurology·2017

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

Human mutation·2016

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.

BMC medical genetics·2015

Epidural analgesia in labour and neonatal and childhood outcomes: national population based cohort study.

BMJ (Clinical research ed.)·2026

Contemporary hormonal contraception and colorectal cancer in premenopausal women: nationwide cohort study.

BMJ (Clinical research ed.)·2026

A generalized test of genotype-phenotype causality in population-sampled nuclear families.

PLoS genetics·2026

Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease Carriers.

Neurology. Genetics·2026

Low-Coverage Whole-Genome Sequencing Identifies Loci Associated with Birth Weight in East Friesian × Hu Crossbred Sheep.

Animals : an open access journal from MDPI·2026

Integrative MRI and Genomics Analyses Prioritize <i>PACSIN1</i> as a Candidate Gene for Cerebellar Ataxia in Border Collies.

Animals : an open access journal from MDPI·2026

Bayesian Population-Based Prevalence Estimation of <i>KCNV2</i>-Associated Retinopathy: A Comparative Analysis of Disease-Associated Variant Frequencies in Russian and Global Populations.

International journal of molecular sciences·2026

Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder.

Molecular psychiatry·2026

Related Experiment Videos

Useful information about rare inherited disorders

Related Concept Videos

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.

Epidural analgesia in labour and neonatal and childhood outcomes: national population based cohort study.

Contemporary hormonal contraception and colorectal cancer in premenopausal women: nationwide cohort study.

A generalized test of genotype-phenotype causality in population-sampled nuclear families.

Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease Carriers.

Low-Coverage Whole-Genome Sequencing Identifies Loci Associated with Birth Weight in East Friesian × Hu Crossbred Sheep.

Integrative MRI and Genomics Analyses Prioritize <i>PACSIN1</i> as a Candidate Gene for Cerebellar Ataxia in Border Collies.

Bayesian Population-Based Prevalence Estimation of <i>KCNV2</i>-Associated Retinopathy: A Comparative Analysis of Disease-Associated Variant Frequencies in Russian and Global Populations.

Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder.

Related Experiment Videos

Useful information about rare inherited disorders

Related Concept Videos

Related Articles