Further delineation of achondroplasia –hypochondroplasia complex with long‐term survival
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1225-1231, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: AriadnaGonz ález‐del Angel , RocíoRius , Miguel A.Alcántara‐Ortigoza , ElaineSpector , Victoriadel Castillo , Luis EnriqueMata‐García Source Type: research

Comparison of perinatal factors in deletion versus uniparental disomy in Prader –Willi syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1161-1165, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: June ‐AnneGold , RanimMahmoud , Suzanne B.Cassidy , VirginiaKimonis Source Type: research

A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1253-1257, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: AnnalisaAlessandrella , RobertoDella Casa , MariaAlessio , JorgePuente Prieto , PietroStrisciuglio , DanielaMelis Source Type: research

2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1258-1269, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: Michael J.Fisher , Allan J.Belzberg , Peterde Blank , ThomasDe Raedt , FlorentElefteriou , Rosalie E.Ferner , MarcoGiovannini , Gordon J.Harris , MichelKalamarides , Matthias A.Karajannis , AeRangKim , ConxiL ázaro , L Source Type: research

A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1195-1199, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: YukoAkutsu , KentaroShirai , AkiraTakei , YudaiGoto , TomohiroAoyama , AkimituWatanabe , MasatoshiImamura , TakashiEnokizono , TatsuyukiOhto , TetsuoHori , KeikoSuzuki , MasaharuHayashi , KoujiMasumoto , KenInoue Source Type: research