Browsing by Author "Rad, Aboulfazl"

Now showing items 1-15 of 15

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

Vona, Barbara; Rad, Aboulfazl (2021)
Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus

Rad, Aboulfazl; Schade-Mann, Thore; Gamerdinger, Philipp; Tropitzsch, Anke; Vona, Barbara; Müller, Marcus; Löwenheim, Hubert Martin (2021)
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

Rad, Aboulfazl; Vona, Barbara (2021)
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Waldmüller, Stephan; Rad, Aboulfazl; Vona, Barbara; Haack, Tobias (2022)
Biallelic loss of EMC10 leads to mild to severe intellectual disability

Rad, Aboulfazl (2022)
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

Vona, Barbara; Rad, Aboulfazl (2021)
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

Vona, Barbara; Rad, Aboulfazl (2023)
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy

Vona, Barbara; Rad, Aboulfazl (2021)
Identification and characterization of new genes associated with hearing loss

Rad, Aboulfazl (2024)
Identification and Characterization of New Genes Associated with Hearing Loss

Rad, Aboulfazl (2024-08-19)

In humans, hereditary hearing loss (HL) is a frequently occurring disorder with genetic heterogeneity. The incidence of sensorineural HL is 1 to 2 per 1000 at birth, and it is estimated that this disorder can be linked ...
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Rad, Aboulfazl; Loum, Stephen; Vona, Barbara (2022)
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Rad, Aboulfazl; Vona, Barbara (2023)
The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment

Vona, Barbara; Rad, Aboulfazl; Reisinger, Ellen (2020)
Unraveling haplotype errors in the DFNA33 locus

Vona, Barbara; Rad, Aboulfazl; Sturm, Marc; Haack, Tobias (2023)
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment

Rad, Aboulfazl; Kohl, Susanne; Vona, Barbara; Kühlewein, Laura (2022)

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Browsing by Author "Rad, Aboulfazl"

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