Associated Papers
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.
Melguizo-Sanchis D et al.
Cell Death & Disease, 2018
29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA1_Deleterious_Hits
Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family.
Lee E et al.
Journal of Dermatological Science, 2016
Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.
Luzón-Toro B et al.
Bmc Medical Genetics, 2015
Systematic investigation of genetic variability in 111 human genes-implications for studying variable drug response.
Freudenberg-Hua Y et al.
The Pharmacogenomics Journal, 2005
Genetic analysis of RET, GFR alpha 1 and GDNF genes in Spanish families with multiple endocrine neoplasia type 2A.
Gil L et al.
International Journal of Cancer, 2002
Mutation and deletion analysis of GFR alpha-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumours.
Gimm O et al.
British Journal of Cancer, 1999
Investigation of germline GFR alpha-1 mutations in Hirschsprung disease.
Myers SM et al.
Journal of Medical Genetics, 1999
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