- Expansion of the phenotypic spectrum associated with pathogenic ...🔍
- Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants🔍
- Phenotypic expansion illuminates multilocus pathogenic variation🔍
- Expansion of phenotypic spectrum of MYO15A pathogenic variants ...🔍
- Phenotype expansion in rare disorders🔍
- Expanding the phenotypic and molecular spectrum of RNA ...🔍
- Expansion of the Genotypic and Phenotypic Spectrum of ASH1L ...🔍
- Expanding allelic and phenotypic spectrum of ZC4H2|related disorder🔍
Expansion of the phenotypic spectrum associated with pathogenic ...
Expansion of the phenotypic spectrum associated with pathogenic ...
Pathogenic heterozygous variants in DHX16 have been recently identified in association with a variety of clinical features, ...
Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants
Overall, the genotypic and phenotypic spectrum of ciliopathies becomes wider and conflicting while more and more new variants are added to this ...
Expansion of the phenotypic spectrum associated with pathogenic ...
Dive into the research topics of 'Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16'. Together they form a unique ...
Phenotypic expansion illuminates multilocus pathogenic variation
We investigated the hypothesis that an observed clinical phenotype, initially interpreted as phenotypic expansion associated with pathogenic variation at one ...
Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants
Overall, the genotypic and phenotypic spectrum of ciliopathies becomes wider and conflicting while more and more new variants are added to this group of ...
Expansion of the phenotypic spectrum associated with pathogenic ...
Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16 ... To read the full-text of this research, you can request a copy ...
Expansion of phenotypic spectrum of MYO15A pathogenic variants ...
MYO15A variants, except those in the N-terminal domain, have been shown to be associated with congenital or pre-lingual severe-to-profound ...
Phenotype expansion in rare disorders - Breda Genetics srl
Different parts of a gene encode different parts of a protein. Furthermore, pathogenic mutations may be of very distinct types, leading to gain ...
Expanding the phenotypic and molecular spectrum of RNA ...
To expand the phenotypic spectrum of severity of POLR3-related leukodystrophy and identify genotype-phenotype correlations through study of ...
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L ...
Pathogenic ASH1L variants have been reported in probands with broad phenotypic presentations, including intellectual disability, autism spectrum disorder.
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder
Pathogenic variants in ZC4H2 have been associated with Wieacker-Wolff syndrome (MIM# 314580), an X-linked neurodevelopmental disorder characterized by ...
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L ...
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder ... Pathogenic ASH1L variants have been reported ...
Expanded phenotypic spectrum of neurodevelopmental ... - Nature
Potential genotype-phenotype correlation was explored given our hypothesis that individuals harboring similar variants would present with ...
Expanding the phenotypic spectrum of ARCN1-related syndrome
However, we consider this variant as pathogenic on the basis of American College of Medical Genetics and Genomics/Association for Molecular Pathology ...
P180: Expanding the phenotype spectrum of Mendelian diseases ...
Genes associated with >1 validated disease sharing the same inheritance underwent manual review. Disorders were lumped together if the same variant resulted in ...
Expanding the phenotypic spectrum of TUBB4A-associated ...
Fourteen patients with hypomyelinating leukoencephalopathies, 7 clinically diagnosed with hypomyelination with atrophy of the basal ganglia and cerebellum ...
Expanding the phenotypic spectrum associated with OPHN1 variants
As genomic sequencing becomes more common, connecting patients with novel variants in the same gene will facilitate phenotypic analysis and continue to refine ...
Phenotypic spectrum associated with SPECC1L pathogenic variants
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter ...
Expanding the Clinical Spectrum of Phenotypes Caused by ...
Our experience of six patients with biallelic pathogenic variants in PLOD2 expands the phenotypic spectrum in the PLOD2-related phenotypes. Original ...
Expanding the phenotypic spectrum and clinical severity associated ...
Request PDF | On Oct 3, 2023, Ghada M H Abdel-Salam and others published Expanding the phenotypic spectrum and clinical severity associated with WLS gene ...