Autosomal dominant inheritance and amino aciduria in Blackfan-Diamond anaemia. | Journal of Medical Genetics
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Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature. | Journal of...
The parallel is made between dyskeratosis congenita and Fanconis anaemia. The X-linked transmission of dyskeratosis congenita ...
Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1 | Journal of Medical Genetics
Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1 ... Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1 ...
The Genetic Variability of Thalassaemia. A Family Study | Journal of Medical Genetics
One of them showed the characteristics of Cooleys anaemia, whereas the other was almost symptomless. The existence of two ...
Dermatology | Journal of Medical Genetics
LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia ( ...
Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the...
Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the ... Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the ...
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel...
Background BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group ...
Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome | Journal of Medical Genetics
A 22-year-old woman presented with a 3-year history of anemia and a weight loss of 9 kg over the previous few months. A large ...
Retrospective natural history of thymidine kinase 2 deficiency | Journal of Medical Genetics
... anaemia, thrombosis, capillary-leak syndrome, bilateral chylothorax and occipital skin necrosis. Overall, 13/39 (33.3%) ...