Now showing items 1-14 of 14

    Issue DateTitleAuthor(s)
    8 January 2019An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia  Rawlins, LE; Jones, H; Wenger, O; et al.
    4 February 2019Copy number variation of LINGO1 in familial dystonic tremor  Alakbarzade, V; Iype, T; Chioza, BA; et al.
    30 November 2021Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency  Fasham, J; Lin, S; Ghosh, P; et al.
    3 June 2019Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.  Jeffries, AR; Maroofian, R; Salter, CG; et al.
    20 February 2018Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report  Ullah, MI; Nasir, A; Ahmad, A; et al.
    10 November 2015A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations  Iype, T; Alakbarzade, V; Iype, M; et al.
    29 August 2018Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa  Li, L; Jiao, X; D'Atri, I; et al.
    3 January 2017A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis  Ahmed, MY; Al-Khayat, A; Al-Murshedi, F; et al.
    12 January 2017Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.  Muggenthaler, MMA; Chowdhury, B; Hasan, SN; et al.
    16 November 2016Novel homozygous missense mutation in GAN associated with Charcot-Marie-Toothdisease type 2 in a large consanguineousfamily from Israel  Aharoni, S; Barwick, KES; Harlalka, GV; et al.
    14 December 2016A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report  Dehghan Tezerjani, M; Maroofian, R; Vahidi Mehrjardi, MY; et al.
    28 February 2017PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment  Zollo, M; Ahmed, M; Ferrucci, V; et al.
    12 June 2015Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73  Jinks, RN; Puffenberger, EG; Baple, Emma Louise; et al.
    3 March 2018Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.  Salter, CG; Beijer, D; Hardy, H; et al.