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UnknownTerminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation.
Not available
S-EPMC4303216 | biostudies-literature
UnknownCase report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome.
Not available
S-EPMC10961356 | biostudies-literature
UnknownIdentification and characterization of novel marine oxasqualenoid yucatecone against Naegleria fowleri.
Not available
S-EPMC10258243 | biostudies-literature
UnknownIdentification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).
Not available
S-EPMC5121352 | biostudies-literature
UnknownExtreme Phenotypic Variability of ACTG1-Related Disorders in Hearing Loss.
Not available
S-EPMC11672310 | biostudies-literature
UnknownClinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.
Not available
S-EPMC9367242 | biostudies-literature
ProteomicsCatovirus naegleriensis (Naegleriavirus) shotgun LCMS/MS
Naegleriavirus virions purified from the amoeboflagellate Naegleriaclarki were analysed. The virus infects members of the genus Naegleriaincluding the infamous human pathogen Naegleria fowleri, the causativeagent of the rare but lethal disease primary amoebicmeningoencephalitis.
ORGANISM(S): Naegleria fowleri 
2024-04-29 | PXD044853 | Pride
Mimiviridae Giant virus Translation components Naegleria fowleri 
UnknownFurther delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Not available
S-EPMC7080728 | biostudies-literature
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