A 28-Year-Old Male Patient with Nail Tumors, Skin Lesions, and Epilepsy

Por Balak, Deepak M.W., Zonnenberg, Bernard A., Spitzer-Naaijkens, Juliette M.J., Hulshof, Mieke M.
Publicado no Case Rep Dermatol (2017)

“Lost and Found”: snoRNA Annotation in the Xenopus Genome and Implications for Evolutionary Studies

Por Deryusheva, Svetlana, Talhouarne, Gaëlle J S, Gall, Joseph G
Publicado no Mol Biol Evol (2020)

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue

Por Theil, Arjan F, Mandemaker, Imke K, van den Akker, Emile, Swagemakers, Sigrid M A, Raams, Anja, Wüst, Tatjana, Marteijn, Jurgen A, Giltay, Jacques C, Colombijn, Richard M, Moog, Ute, Kotzaeridou, Urania, Ghazvini, Mehrnaz, von Lindern, Marieke, Hoeijmakers, Jan H J, Jaspers, Nicolaas G J, van der Spek, Peter J, Vermeulen, Wim
Publicado no Hum Mol Genet (2017)

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1

Por Kocak, Hande, Ballew, Bari J., Bisht, Kamlesh, Eggebeen, Rebecca, Hicks, Belynda D., Suman, Shalabh, O’Neil, Adri, Giri, Neelam, Maillard, Ivan, Alter, Blanche P., Keegan, Catherine E., Nandakumar, Jayakrishnan, Savage, Sharon A.
Publicado em 2014

The biology and treatment of acute long-bones diaphyseal fractures: Overview of the current options for bone healing enhancement

Por Marongiu, Giuseppe, Dolci, Andrea, Verona, Marco, Capone, Antonio
Publicado no Bone Rep (2020)

SAT-241 Hyposplenism and Autoimmune Hepatitis: Rare Complications of Autoimmune Polyendocrinopathy Candidiasis and Ectodermal Dystrophy (APECED)

Por Miller, Clare, Mcquaid, Siobhan
Publicado no J Endocr Soc (2019)