De novo mutation in three families with multigenerational incontinentia pigmenti

[Presacral lesion at the rima ani].

Der Pathologe·2017

[The histological confirmation of diffuse axonal injury in severe brain injury survivors].

Versicherungsmedizin·2015

Aldehyde dehydrogenase and HSP90 co-localize in human glioblastoma biopsy cells.

Biochimie·2012

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

Clinical genetics·2009

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.

Journal of medical genetics·2008

[Endophthalmitis after repeated bevacizumab injections].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·2008

Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance.

American journal of human genetics·2026

Loss of the human BRIP1 C terminus does not cause Fanconi anemia.

American journal of human genetics·2026

A massively parallel reporter assay of MECP2cis-regulatory elements reveals genetic candidates for male-biased autism.

American journal of human genetics·2026

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.

American journal of human genetics·2026

Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders.

American journal of human genetics·2026

Effect heterogeneity reveals complex pleiotropic effects of rare coding variants.

American journal of human genetics·2026

Intrafamilial phenotypic variation in four Palestinian siblings with CFAP418-related ciliopathy: a familial case series.

BMC ophthalmology·2026

Genetic variants in NEF2L2 rs35652124 and GABRB3 rs2081648 genes: association with autism spectrum disorder in Iraqi children.

Neuroscience·2026

Phenotypic spectrum of 1q21.1 copy number variants in 42 children: genotype-phenotype correlations and clinical implications.

European journal of pediatrics·2026

Estimating the Heritability of Intelligence with a Nuclear Twin Family Design.

Twin research and human genetics : the official journal of the International Society for Twin Studies·2026

Gut microbiota and the gut-brain axis in autism spectrum disorder and attention-deficit/hyperactivity disorder: A scoping review of shared and disorder-specific mechanistic pathways.

AIMS microbiology·2026

Case Report: Neonatal lethality caused by novel compound heterozygous missense variants of SLC6A9 gene.

Frontiers in pediatrics·2026

Related Experiment Videos

De novo mutation in three families with multigenerational incontinentia pigmenti

Related Concept Videos

[Presacral lesion at the rima ani].

[The histological confirmation of diffuse axonal injury in severe brain injury survivors].

Aldehyde dehydrogenase and HSP90 co-localize in human glioblastoma biopsy cells.

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.

[Endophthalmitis after repeated bevacizumab injections].

Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance.

Loss of the human BRIP1 C terminus does not cause Fanconi anemia.

A massively parallel reporter assay of MECP2cis-regulatory elements reveals genetic candidates for male-biased autism.

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.

Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders.

Effect heterogeneity reveals complex pleiotropic effects of rare coding variants.

Intrafamilial phenotypic variation in four Palestinian siblings with CFAP418-related ciliopathy: a familial case series.

Genetic variants in NEF2L2 rs35652124 and GABRB3 rs2081648 genes: association with autism spectrum disorder in Iraqi children.

Phenotypic spectrum of 1q21.1 copy number variants in 42 children: genotype-phenotype correlations and clinical implications.

Estimating the Heritability of Intelligence with a Nuclear Twin Family Design.

Gut microbiota and the gut-brain axis in autism spectrum disorder and attention-deficit/hyperactivity disorder: A scoping review of shared and disorder-specific mechanistic pathways.

Case Report: Neonatal lethality caused by novel compound heterozygous missense variants of SLC6A9 gene.

Related Experiment Videos

De novo mutation in three families with multigenerational incontinentia pigmenti

Related Concept Videos

Related Articles