Health Innovation Manchester

Industry / private company


Location: Manchester, United Kingdom (GB) GB

ISNI: -

ROR: https://ror.org/034a0hk59

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

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Abstract

Journal

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome (2024) Rots D, Bouman A, Yamada A, Levy M, Dingemans AJ, de Vries BB, Ruiterkamp-Versteeg M, et al. Journal article Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel (2023) Levi H, Carmi S, Rosset S, Yerushalmi R, Zick A, Yablonski-Peretz T, Wang Q, et al. Journal article Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis (2022) Kožich V, Schwahn BC, Sokolová J, Křížková M, Ditroi T, Krijt J, Khalil Y, et al. Journal article PEDIA: prioritization of exome data by image analysis (2019) Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, et al. Journal article Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome (2018) Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, et al. Journal article