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MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

• Authors : Karayol, Remzi; Borroto, Maria; Haghshenas, Sadegheh

Subjects: MSL2; autism; connective tissue

• Source: American Journal of Human Genetics. 111(7)

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PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

• Authors : Fernández-Caballero, Lidia^1,2 (AUTHOR) ; Martín-Merida, Inmaculada^1,2 (AUTHOR) ; Blanco-Kelly, Fiona^1,2 (AUTHOR)

Subjects: *RETINAL degeneration; *RETINITIS pigmentosa; *PHENOTYPIC plasticity

• Source: International Journal of Molecular Sciences. Mar2024, Vol. 25 Issue 5, p2913. 18p.

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Apolipoprotein E-ε2 and Resistance to Atherosclerosis in Midlife-The PESA Observational Study.

• Authors : Toribio-Fernández, Raquel; Tristão-Pereira, Catarina; Carlos Silla-Castro, Juan

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Practice at the research interface: Two-Eyed Seeing, community-engaged research practice, and non-Indigenous collaboration in Aboriginal and Torres Strait Islander health research

• Authors : Violette, Richard;

Subjects: Aboriginal and Torres Strait Islander peoples; Two-Eyed Seeing; research practice

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Medication-related problems identified by community pharmacists: a descriptive case study of two Australian populations.

• Authors : Collins, Jack C.¹ (AUTHOR); Hu, Jie² (AUTHOR); McMillan, Sara S.^2,3,4 (AUTHOR)

Subjects: *INDIGENOUS Australians; *INDIGENOUS children; *PHARMACISTSNEW Zealand

• Source: Journal of Pharmaceutical Policy & Practice. 11/2/2023, Vol. 16 Issue 1, p1-12. 12p.

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International interlaboratory compilation of trace element concentrations in the CUP-2 uranium ore concentrate standard.

• Authors : Denton, Joanna S.¹ (AUTHOR) ; Bostick, Debra A.² (AUTHOR); Boulyga, Sergei F.³ (AUTHOR)

• Source: Journal of Radioanalytical & Nuclear Chemistry. Jul2023, Vol. 332 Issue 7, p2817-2832. 16p. 6 Charts, 2 Graphs.

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The vulnerability of Ireland's freshwater fish to climate change.

• Authors : Barry, James¹ (AUTHOR) ; Radinger, Johannes² (AUTHOR); Connor, Lynda³ (AUTHOR)

Subjects: *FRESHWATER fishes; *CLIMATE change; *ARCTIC charIRELAND

• Source: Fisheries Management & Ecology. Apr2023, Vol. 30 Issue 2, p142-153. 12p.

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Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks.

• Authors : de la Fuente, Lorena^1,2,3 (AUTHOR); Del Pozo-Valero, Marta^1,2 (AUTHOR); Perea-Romero, Irene^1,2 (AUTHOR)

Subjects: *GENETIC disorders; *RARE diseases; *EXOMES

• Source: International Journal of Molecular Sciences. Jan2023, Vol. 24 Issue 2, p1661. 21p.

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Activating pharmacists to reduce the frequency of medication-related problems (ACTMed):a stepped wedge cluster randomised trial

• Authors : Spinks, Jean; Violette, Richard; Boyle, Douglas I.R.

Subjects: General practice; Patient safety; Pharmacist

• Source: Spinks , J , Violette , R , Boyle , D I R , Petrie , D , Fanning , L , Hall , K K , Kelly , F , Wheeler , A J , Ware , R S , Byrnes , J , Chen , E , Donald , A , Ellis ,

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A second update on mapping the human genetic architecture of COVID-19

• Authors : Kanai, Masahiro; Andrews, Shea J.; Cordioli, Mattia ...

Subjects: Settore MED/10 - Malattie dell'Apparato Respiratorio; Settore MED/09 - Medicina Interna; Settore MED/17 - Malattie Infettive

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