共 50 条
- [41] First Case of Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome Due to a Novel Mutation in GATA3 with Gene Amastia and Athelia HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 26 - 26
- [43] Novel missense mutation in the EDA gene in a family affected by oligodontia JOURNAL OF OROFACIAL ORTHOPEDICS-FORTSCHRITTE DER KIEFERORTHOPADIE, 2016, 77 (01): : 31 - 38
- [44] A Novel Mutation in GATA3 in a Patient with Bakarat Syndrome HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 35 - 36
- [47] Identification of a novel NOTCH3 mutation in an Italian family affected by a mild form of CADASIL Neurological Sciences, 2019, 40 : 1751 - 1753
- [48] Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2011, 20 (09): : 711 - 712
- [50] Suppression of GATA-3 Nuclear Import and Phosphorylation: A Novel Mechanism of Corticosteroid Action in Allergic Disease PLOS MEDICINE, 2009, 6 (05):