RE-BVS – Piemonte Repository

Sfoglia per AUTORE
HENNEKAM R
Collezione AOU Città della Salute di Torino

Items : 3

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype. in American journal of medical genetics. Part C, Seminars in medical genetics / Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32089. doi: 10.1002/ajmg.c.32089. Epub 2024 Jun 1

2024
AOU Città della Salute di Torino

Sousa SB; Kini U; Oliveira D; Zollino M; Metcalfe K; Yamamoto T; Bourgois A; Perrin L; Vincent-Devulder A; Weber S; Faivre L; Vitobello A; Ciaccio C; D'Arrigo S; Hennekam RCM; Henneman P; Alders M; Skinner C; Tedder ML; McConkey H; Kerkhof J; Relator R; Levy MA; Brusco A; Carli D; Reilly J; Trajkova S; Sarli C; van der Laan L; et alii...

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. in Nature reviews. Endocrinology / Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29.

2018
AOU Città della Salute di Torino

Brioude F; Kalish JM; Mussa A; Foster AC; Bliek J; Ferrero GB; Boonen SE; Cole T; Baker R; Bertoletti M; Cocchi G; Coze C; De Pellegrin M; Hussain K; Ibrahim A; Kilby MD; Krajewska-Walasek M; Kratz CP; Ladusans EJ; Lapunzina P; Le Bouc Y; Maas SM; Macdonald F; Õunap K; Peruzzi L; Rossignol S; Russo S; Shipster C; Skórka A; et alii...

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply. in European journal of human genetics : EJHG / Eur J Hum Genet. 2018 Apr;26(4):471-472. doi: 10.1038/s41431-017-0074-2. Epub 2018 Feb 15.

2018
AOU Città della Salute di Torino

Brioude F; Hennekam R; Bliek J; Coze C; Eggermann T; Ferrero GB; Kratz C; Bouc YL; Maas SM; Mackay DJG; Maher ER; Mussa A; Netchine I;