Maturity-onset diabetes of the young (MODY) is a group of many ailments characterized by abnormally high blood sugar ranges. These…
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Hailey-Hailey disease – Genetics Home Reference
Behne MJ, Tu CL, Aronchik I, Epstein E, Bench G, Bikle DD, Pozzan T, Mauro TM. Human keratinocyte ATP2C1 localizes…
Read MoreSnijders Blok-Campeau syndrome – Genetics Home Reference
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda…
Read MoreNonketotic hyperglycinemia – Genetics Home Reference
Aliefendioğlu D, Tana Aslan Ay, Coşkun T, Dursun A, Cakmak FN, Kesimer M. Transient nonketotic hyperglycinemia: two situation experiences and…
Read MoreSaul-Wilson syndrome – Genetics Home Reference
Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG,…
Read MoreSTAC3 disorder – Genetics Home Reference
Campiglio M, Flucher BE. STAC3 stably interacts through its C1 domain with Ca(V)1.1 in skeletal muscle triads. Sci Rep. 2017…
Read MoreADPEAF – Genetics Home Reference
Autosomal dominant partial epilepsy with auditory features (ADPEAF) is an uncommon form of epilepsy that runs in families. This disorder…
Read MoreGRN-related frontotemporal lobar degeneration – Genetics Home Reference
Chen Q, Boeve BF, Senjem M, Tosakulwong N, Lesnick T, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R,…
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