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UnknownCharacterization of an iroBCDEN gene cluster on a transmissible plasmid of uropathogenic Escherichia coli: evidence for horizontal transfer of a chromosomal virulence factor.
Not available
S-EPMC155703 | biostudies-literature
UnknownIdentification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Not available
S-EPMC5843189 | biostudies-literature
UnknownHaploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
Not available
S-EPMC3309205 | biostudies-literature
UnknownX-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
Not available
S-EPMC4015352 | biostudies-literature
UnknownMirror-image asymmetry in monozygotic twins with kabuki syndrome.
Not available
S-EPMC3542933 | biostudies-literature
TranscriptomicsMapping translocation breakpoints by next-generation sequencing
Balanced chromosome rearrangements (BCRs) can cause genetic diseases by disrupting or inactivating specific genes, and the characterisation of breakpoints in disease-associated BCRs has been instrumental in the molecular elucidation of a wide variety of genetic disorders. However, mapping chromosome...
ORGANISM(S): Homo sapiens 
2010-05-22 | E-GEOD-10115 | biostudies-arrayexpress
UnknownPyelonephritis and urosepsis caused by Streptococcus pneumoniae.
Not available
S-EPMC516369 | biostudies-literature
TranscriptomicsTranscription profiling of human amniocytes and prenatal chorion villus cells cultured from fetuses with trisomy 13, 18 or 21 and those from healthy controls
Background: Among full autosomal trisomies, only trisomies of chromosome 21 (Down syndrome, DS), 18 (Edward syndrome, ES) and 13 (Patau syndrome, PS) are compatible with postnatal survival. But the mechanisms, how a supernumerary chromosome disrupts the normal development and causes specific phenoty...
ORGANISM(S): Homo sapiens 
2008-06-14 | E-GEOD-6283 | biostudies-arrayexpress
UnknownClinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature.
Not available
S-EPMC3439641 | biostudies-literature
UnknownNovel HIVEP2 Variants in Patients with Intellectual Disability.
Not available
S-EPMC6738162 | biostudies-literature
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