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UnknownBiallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia.
Not available
S-EPMC7695969 | biostudies-literature
UnknownAn inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.
Not available
S-EPMC5291234 | biostudies-literature
UnknownMutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
Not available
S-EPMC1199369 | biostudies-literature
UnknownMutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling
Not available
S-SCDT-EMM-2019-11739 | biostudies-other
UnknownGenetics of monozygotic twins reveals the impact of environmental sensitivity on psychiatric and neurodevelopmental phenotypes.
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S-EPMC12367547 | biostudies-literature
UnknownRisk thresholds for alcohol consumption: combined analysis of individual-participant data for 599 912 current drinkers in 83 prospective studies.
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S-EPMC5899998 | biostudies-literature
UnknownAn inclusive Research Education Community (iREC): Impact of the SEA-PHAGES program on research outcomes and student learning.
Not available
S-EPMC5754813 | biostudies-literature
UnknownAI is a viable alternative to high throughput screening: a 318-target study.
Not available
S-EPMC10987645 | biostudies-literature
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