المؤلفون: Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Machteld M. Oud

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: IFT140, skeletal ciliopathy, cilium phenotype, MZSDS-like features, CED-like features, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.931822/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/093c479a2afb4c8eb2eb56f757584e8d

المؤلفون: Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Machteld M. Oud

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, IFT140, skeletal ciliopathy, cilium phenotype, MZSDS-like features, CED-like features

Relation: https://figshare.com/articles/dataset/DataSheet1_Identical_IFT140_Variants_Cause_Variable_Skeletal_Ciliopathy_Phenotypes_Challenges_for_the_Accurate_Diagnosis_docx/20250975

الاتاحة: https://doi.org/10.3389/fgene.2022.931822.s001
https://figshare.com/articles/dataset/DataSheet1_Identical_IFT140_Variants_Cause_Variable_Skeletal_Ciliopathy_Phenotypes_Challenges_for_the_Accurate_Diagnosis_docx/20250975