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UnknownGenetic Determinants of Cisplatin Resistance in Patients With Advanced Germ Cell Tumors.
Not available
S-EPMC5477828 | biostudies-literature
UnknownIL-13-programmed airway tuft cells produce PGE2, which promotes CFTR-dependent mucociliary function.
Not available
S-EPMC9310525 | biostudies-literature
UnknownModel organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.
Not available
S-EPMC8103593 | biostudies-literature
UnknownHeterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Not available
S-EPMC8487929 | biostudies-literature
UnknownEffect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
Not available
S-EPMC6481166 | biostudies-literature
UnknownDominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Not available
S-EPMC12358889 | biostudies-literature
UnknownFurther evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.
Not available
S-EPMC6169826 | biostudies-literature
UnknownLoss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Not available
S-EPMC11451386 | biostudies-literature
UnknownA description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
Not available
S-EPMC8208045 | biostudies-literature
UnknownBi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Not available
S-EPMC6408318 | biostudies-literature
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