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UnknownInbreeding estimates in human populations: Applying new approaches to an admixed Brazilian isolate.
Not available
S-EPMC5916862 | biostudies-literature
UnknownHaploid selection drives new gene male germline expression.
Not available
S-EPMC6633266 | biostudies-literature
UnknownThe segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.
Not available
S-EPMC4696321 | biostudies-literature
UnknownIn memory of James F. Crow (1916-2012), a life dedicated to population genetics; with an updated list of his publications.
Not available
S-EPMC3324105 | biostudies-literature
UnknownA novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome.
Not available
S-EPMC4415559 | biostudies-literature
UnknownUBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.
Not available
S-EPMC1559544 | biostudies-literature
UnknownWaardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.
Not available
S-EPMC10886116 | biostudies-literature
UnknownThe clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.
Not available
S-EPMC3658899 | biostudies-literature
UnknownUtility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.
Not available
S-EPMC6110279 | biostudies-literature
UnknownClinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.
Not available
S-EPMC12580479 | biostudies-literature
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