-
Regions of interest with LOD > 1 in both families.
Regions of interest with LOD > 1 in both families. -
Diagnostic outcomes of exome sequencing in patients with syndromic or non-syn...
Hereditary hearing loss (HL) is a common sensory disorder, with an incidence of 1–2 per 1000 newborns, and has a genetic etiology in over 50% of cases. It occurs either as part... -
r37980778c78--8e325a6d5f292614af55fdca75a46975
Given prior evidence that an affected woman conveys a higher risk of ovarian cancer to her sister than to her mother, we hypothesized that there exists an X-linked variant... -
Rates of granddaughter cancer in grandmother-granddaughter pairs.
Rates of granddaughter cancer in grandmother-granddaughter pairs. -
Additional file 2: of A missense mutation in solute carrier family 12, member...
Sex of affected fetuses. PCR products with 119Â bp and 216Â bp were amplified using the primer pairs for the Y chromosome and GAPDH, respectively. Lanes 1 to 9: affected... -
Genetic Candidate Variants in Two Multigenerational Families with Childhood A...
Childhood apraxia of speech (CAS) is a severe and socially debilitating form of speech sound disorder with suspected genetic involvement, but the genetic etiology is not yet... -
Training Material For Exome Sequencing
Exome sequencing means that all protein-coding genes in a genome are sequenced. In Humans, there are ~180,000 exons that makes up 1% of the human genome which contain ~30... -
Cancer rates given an affected daughter or sister.
Cancer rates given an affected daughter or sister. -
r37980778c78--297f0e22a859535602ad375c0b895ccd
Exome variants in the regions of interest based on linkage analysis results in 95%CI regions and regions with strongest evidence. -
Disease causing variants and variants of uncertain significance in HL probands.
Disease causing variants and variants of uncertain significance in HL probands.
