Pages that link to "Q28768471"
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The following pages link to Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects (Q28768471):
Displaying 14 items.
- Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively (Q24633194) (← links)
- Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1 (Q33910975) (← links)
- A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements (Q36488731) (← links)
- Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease (Q36908091) (← links)
- Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants (Q36930182) (← links)
- Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy (Q39762726) (← links)
- Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations (Q47609493) (← links)
- Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1. (Q51907625) (← links)
- Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections. (Q55402587) (← links)
- Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan (Q57242409) (← links)
- Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders (Q57779098) (← links)
- Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation (Q64113831) (← links)
- Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with two isochromosomes: i(9p) and i(9q) (Q73098916) (← links)
- Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid tumor (Q74108595) (← links)