Unraveling the genetics of Joubert and Meckel-Gruber syndromes

Por Szymanska, Katarzyna, Hartill, Verity L., Johnson, Colin A.
Publicado no J Pediatr Genet (2014)

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

Por Hollstein, Ronja, Parry, David A, Nalbach, Lisa, Logan, Clare V, Strom, Tim M, Hartill, Verity L, Carr, Ian M, Korenke, Georg C, Uppal, Sandeep, Ahmed, Mushtaq, Wieland, Thomas, Markham, Alexander F, Bennett, Christopher P, Gillessen-Kaesbach, Gabriele, Sheridan, Eamonn G, Kaiser, Frank J, Bonthron, David T
Publicado no J Med Genet (2015)