Associated Papers
Gene mutations impede oocyte maturation, fertilization, and early embryonic development.
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Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience.
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Scandinavian Journal of Immunology, 2018
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2014
Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature.
Grabhorn E et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2014
Occurrence of GCH1 gene mutations in a group of Indian dystonia patients.
Naiya T et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2012
Heterozygous M1V variant of ELA-2 gene mutation associated with G-CSF refractory severe congenital neutropenia.
Setty BA et al.
Pediatric Blood & Cancer, 2011
Jak3, severe combined immunodeficiency, and a new class of immunosuppressive drugs.
Pesu M et al.
Immunological Reviews, 2005
In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus.
John SW et al.
Human Mutation, 1992
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