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UnknownDrooling outcome measures in paediatric disability: a systematic review.
Not available
S-EPMC9192436 | biostudies-literature
UnknownMapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.
Not available
S-EPMC1180235 | biostudies-literature
UnknownCornelia de Lange Syndrome: From a Disease to a Broader Spectrum.
Not available
S-EPMC8307173 | biostudies-literature
UnknownA balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
Not available
S-EPMC3621145 | biostudies-literature
UnknownCase report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.
Not available
S-EPMC10387531 | biostudies-literature
UnknownHeterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.
Not available
S-EPMC379160 | biostudies-literature
UnknownVarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database.
Not available
S-EPMC6291943 | biostudies-literature
UnknownDisruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.
Not available
S-EPMC1235301 | biostudies-literature
Unknown14q32.3-qter trisomic segment: a case report and literature review.
Not available
S-EPMC4974715 | biostudies-literature
UnknownRubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
Not available
S-EPMC1626071 | biostudies-literature
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