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UnknownFirst genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients.
Not available
S-EPMC3533142 | biostudies-literature
UnknownLarge-Scale Production of Adeno-Associated Viral Vector Serotype-9 Carrying the Human Survival Motor Neuron Gene.
Not available
S-EPMC4948117 | biostudies-literature
UnknownComprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
Not available
S-EPMC4641619 | biostudies-literature
UnknownDiagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application.
Not available
S-EPMC11441242 | biostudies-literature
UnknownProspective evaluation of whole genome microRNA expression profiling in childhood acute lymphoblastic leukemia.
Not available
S-EPMC4053274 | biostudies-literature
UnknownNovel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.
Not available
S-EPMC4589207 | biostudies-literature
UnknownBiallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Not available
S-EPMC9982667 | biostudies-literature
UnknownNovel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.
Not available
S-EPMC5679420 | biostudies-literature
UnknownSMOC1 is essential for ocular and limb development in humans and mice.
Not available
S-EPMC3014372 | biostudies-literature
UnknownVariations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.
Not available
S-EPMC4999867 | biostudies-literature
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