Pachyonychia congenita and steatocystoma multiplex

Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations.

Annals of the New York Academy of Sciences·2017

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.

American journal of human genetics·2005

Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease.

Clinical genetics·2005

Evaluation of psychological symptoms among presymptomatic HD gene carriers as measured by selected MMPI scales.

Journal of psychiatric research·2002

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.

American journal of human genetics·2002

Longitudinal personality changes among presymptomatic Huntington disease gene carriers.

Neuropsychiatry, neuropsychology, and behavioral neurology·2002

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

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.

Clinical genetics·2026

The First Case of Isolated Uterine Atony as the Only Symptom in an Individual With ACTG2-Associated Visceral Myopathy.

Clinical genetics·2026

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

Clinical genetics·2026

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Clinical genetics·2026

Mammalian metaphase kinetochores are elastic and require condensin for robust structure and function.

The Journal of cell biology·2026

Anisotropic electrostatic-elastic softening and stability in charged colloidal crystals.

The Journal of chemical physics·2026

Scale-dependent structural evolution reveals the nanoscale-to-mesoscale mechanism of diameter-dependent strength degradation in carbon fibers.

Nanoscale·2026

Multimodal label-free imaging reveals increased nuclear hydration and apparent stiffening during cellular senescence.

Chemical communications (Cambridge, England)·2026

Cohesin acts as a transcriptional gatekeeper by restraining pause-release to promote processive elongation.

Nature communications·2026

Day-level associations of nicotine and cannabis vaping and co-vaping with sleep duration and quality among young adults: A smartphone-based daily diary study.

Sleep health·2026

Related Experiment Videos

Pachyonychia congenita and steatocystoma multiplex

Related Concept Videos

Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations.

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.

Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease.

Evaluation of psychological symptoms among presymptomatic HD gene carriers as measured by selected MMPI scales.

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.

Longitudinal personality changes among presymptomatic Huntington disease gene carriers.

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

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

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.

The First Case of Isolated Uterine Atony as the Only Symptom in an Individual With ACTG2-Associated Visceral Myopathy.

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Mammalian metaphase kinetochores are elastic and require condensin for robust structure and function.

Anisotropic electrostatic-elastic softening and stability in charged colloidal crystals.

Scale-dependent structural evolution reveals the nanoscale-to-mesoscale mechanism of diameter-dependent strength degradation in carbon fibers.

Multimodal label-free imaging reveals increased nuclear hydration and apparent stiffening during cellular senescence.

Cohesin acts as a transcriptional gatekeeper by restraining pause-release to promote processive elongation.

Day-level associations of nicotine and cannabis vaping and co-vaping with sleep duration and quality among young adults: A smartphone-based daily diary study.

Related Experiment Videos

Pachyonychia congenita and steatocystoma multiplex

Related Concept Videos

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