Cardiology PC
Hospital
Location:
Birmingham,
United Kingdom (GB)
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly (2024)
Herbst C, Bothe V, Wegler M, Axer-Schaefer S, Audebert-Bellanger S, Gecz J, Cogne B, et al.
Journal article
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024)
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al.
Journal article
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay (2024)
Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, et al.
Journal article
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants (2024)
Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, et al.
Journal article
The 2022 World Health Organization Classification of Tumors of the Urinary System and Male Genital Organs-Part B: Prostate and Urinary Tract Tumors. (2022)
Netto GJ, Amin MB, Berney DM, Compérat EM, Gill AJ, Hartmann A, Menon S, et al.
Journal article, Review article