Associated Papers
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
Mendes MI et al.
Annals of Clinical and Translational Neurology, 2020
Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience.
Esenboga S et al.
Scandinavian Journal of Immunology, 2018
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.
Picard C et al.
Medicine, 2010
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.
Witsch-Baumgartner M et al.
Human Mutation, 2005
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