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UnknownExpanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.
Not available
S-EPMC3641378 | biostudies-literature
UnknownA Novel Frameshift <i>CHD4</i> Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1).
Not available
S-EPMC9855399 | biostudies-literature
UnknownClassical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.
Not available
S-EPMC5946481 | biostudies-literature
UnknownFunctional categorization of de novo transcriptome assembly of Vanilla planifolia Jacks. potentially points to a translational regulation during early stages of infection by Fusarium oxysporum f. sp. vanillae.
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S-EPMC6839141 | biostudies-literature
UnknownMutation analysis in patients with total sperm immotility.
Not available
S-EPMC4491072 | biostudies-literature
UnknownThe genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study.
Not available
S-EPMC10920333 | biostudies-literature
UnknownPhenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.
Not available
S-EPMC3710273 | biostudies-literature
UnknownThe Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review.
Not available
S-EPMC6395382 | biostudies-literature
UnknownRare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature.
Not available
S-EPMC7763014 | biostudies-literature
UnknownMissense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Not available
S-EPMC10092556 | biostudies-literature
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