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UnknownTwo novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Not available
S-EPMC8436746 | biostudies-literature
UnknownPhenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.
Not available
S-EPMC7903881 | biostudies-literature
UnknownExome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Not available
S-EPMC6563799 | biostudies-literature
UnknownPhenotypic expansion in DDX3X - a common cause of intellectual disability in females.
Not available
S-EPMC6186933 | biostudies-literature
UnknownTreatment outcomes of sunitinib and/or pazopanib in advanced alveolar soft part sarcoma: A Turkish Oncology Group (TOG) study.
Not available
S-EPMC12715186 | biostudies-literature
UnknownDeficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Not available
S-EPMC6935753 | biostudies-literature
UnknownMolecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
Not available
S-EPMC4731160 | biostudies-literature
UnknownFunctional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Not available
S-EPMC7608441 | biostudies-literature
UnknownGlobal transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Not available
S-EPMC4319410 | biostudies-literature
UnknownHigh prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Not available
S-EPMC8546040 | biostudies-literature
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