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Human Genetics|June 23, 2021
Genome sequencing in families with congenital limb malformationsJonas Elsner, Martin A Mensah, Manuel Holtgrewe, et al.
Infection|September 17, 2013
Therapy and prophylaxis of opportunistic infections in HIV-infected patients: a guideline by the German and Austrian AIDS societies (DAIG/ÖAG) (AWMF 055/066)J Thoden, A Potthoff, J R Bogner, et al.
Stem Cell Reports|December 10, 2019
Precision Health Resource of Control iPSC Lines for Versatile Multilineage DifferentiationMatthew R Hildebrandt, Miriam S Reuter, Wei Wei, et al.
NPJ Genomic Medicine|November 5, 2021
A recurrent SHANK3 frameshift variant in Autism Spectrum DisorderLivia O Loureiro, Jennifer L Howe, Miriam S Reuter, et al.
American Journal of Human Genetics|December 20, 2024
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locusMarcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.
Cell|April 29, 2014
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationAshleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, et al.
Orphanet Journal of Rare Diseases|March 19, 2021
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrumUlrike Hüffmeier, Cornelia Kraus, Miriam S Reuter, et al.
Human Genetics|October 20, 2014
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrumAlma Kuechler, Marjolein H Willemsen, Beate Albrecht, et al.
European Journal of Human Genetics : EJHG|August 29, 2023
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathologyHenry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, et al.
BMC Genomic Data|May 2, 2023
HostSeq: a Canadian whole genome sequencing and clinical data resourceS Yoo, E Garg, L T Elliott, et al.
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