海量图书期刊资源,随时随地畅享阅读乐趣
A Newborn with Panhypopituitarism and SeizuresKale, Trupti; Patil, Rachit; Pandit, Ramesh · Case Reports in Genetics · 2017
Methylmalonic Acidemia with Novel <i>MUT</i> Gene MutationsPanigrahi, Inusha; Bhunwal, Savita; Varma, Harish; Singh, Simranjeet · Case Reports in Genetics · 2017
Pallister-Hall Syndrome Presenting in AdolescenceMahtabfar, Aria; Buckley, Niall; Murphy, Susan; Danish, Shabbar; Marshall, Ian · Case Reports in Genetics · 2019
11p15.4 Microdeletion Associates with HemihypertrophyPuvabanditsin, Surasak; Sadiq, Mehrin; Jacob, Marianne; Jalil, Maaz; Cabrera, Kenya; Choudry, Omer; Mehta, Rajeev · Case Reports in Genetics · 2018
Intrauterine Growth Retardation Fetus with Trisomy 16 MosaicismChareonsirisuthigul, Takol; Worawichawong, Suchin; Parinayok, Rachanee; Promsonthi, Patama; Rerkamnuaychoke, Budsaba · Case Reports in Genetics · 2014
Adult Prader-Willi Syndrome: An Update on ManagementHo-Ming, Luk · Case Reports in Genetics · 2016
Ocular Manifestations of the <i>NAA10</i> -Related SyndromeGupta, Angela S.; Saif, Hind Al; Lent, Jennifer M.; Couser, Natario L. · Case Reports in Genetics · 2019
Ocular Manifestations of a Novel Proximal 19p13.3 MicrodeletionSwan, L.; Coman, D. · Case Reports in Genetics · 2018