Cirugía, Pediatría, Obstetricia y Ginecología
Departamento
University of Lubeck
Lubeca, AlemaniaPublicacións en colaboración con investigadores/as de University of Lubeck (2)
2015
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Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes
Human Genetics, Vol. 134, Núm. 6, pp. 553-568
2014
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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
Human Molecular Genetics, Vol. 23, Núm. 11, pp. 2888-2900