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Human Molecular Genetics|September 26, 1997
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular CenterJ Laporte, C Guiraud-Chaumeil, M C Vincent, et al.
British Journal of Haematology|April 7, 1999
Diamond-Blackfan anaemia in the Italian populationU Ramenghi, E Garelli, S Valtolina, et al.
Nature Genetics|August 1, 1997
Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 MbP Gustavsson, T N Willing, A van Haeringen, et al.
Blood|December 10, 1999
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expressionT N Willig, N Draptchinskaia, I Dianzani, et al.
American Journal of Human Genetics|October 30, 1998
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneityP Gustavsson, E Garelli, N Draptchinskaia, et al.
American Journal of Human Genetics|March 26, 1999
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt diseaseA Maugeri, M A van Driel, D J van de Pol, et al.
American Journal of Human Genetics|October 1, 1996
Genetic homogeneity of autoimmune polyglandular disease type IP Björses, J Aaltonen, A Vikman, et al.
Journal of Medical Genetics|June 10, 2005
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGHK K Mantripragada, A-C Thuresson, A Piotrowski, et al.
Urologic Oncology|January 26, 2021
Characterization of outcomes in patients with advanced genitourinary malignancies treated with immune checkpoint inhibitorsVincent T Ma, Christopher T Su, Miriam Hu, et al.
Nature Genetics|November 7, 1998
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasisS S Strautnieks, L N Bull, A S Knisely, et al.
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