A <it>de novo </it>marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation by Abu-Amero Khaled K, Hellani Ali M, Salih Mustafa A, Seidahmed Mohammad Z, Elmalik Tageldin S, Zidan Ghassan, Bosley Thomas M

Get full text

A novel syndrome of lethal familial hyperekplexia associated with brain malformation by Seidahmed Mohammed, Salih Mustafa A, Abdulbasit Omer B, Shaheed Meeralebbae, Al Hussein Khalid, Miqdad Abeer M, Al Rasheed Abdullah K, Alazami Anas M, Alorainy Ibrahim A, Alkuraya Fowzan S

Get full text

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis by Al-Fakey Yasser H, Van Maldergem Lionel, McGrath John A, Liu Lu, Alorainy Ibrahim A, Alrasheed Saleh, Abu-Amero Khaled K, Salih Mustafa A, AlSuhaibani Adel H, Oystreck Darren T, Bosley Thomas M

Get full text