ALBERTO
FERNANDEZ JAEN
PROFESOR
P.
Lapunzina
Publicaciones en las que colabora con P. Lapunzina (3)
2022
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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
American Journal of Human Genetics, Vol. 109, Núm. 10, pp. 1867-1884
2020
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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients
European Journal of Human Genetics, Vol. 28, Núm. 4, pp. 469-479
2015
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PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome
European Journal of Human Genetics, Vol. 23, Núm. 12, pp. 1615-1626