ALBERTO
FERNANDEZ JAEN
PROFESOR
Instituto de Salud Carlos III
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Instituto de Salud Carlos III (4)
2022
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Functional and structural deficiencies of Gemin5 variants associated with neurological disorders
Life Science Alliance, Vol. 5, Núm. 7
2021
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Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features
Clinical Genetics, Vol. 100, Núm. 4, pp. 405-411
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