遗传疾病和遗传报告杂志

案例报告

Neurocognitive Functioning in a Young Female with Weaver Syndrome

• Wise JM, Cooper A, Crenshaw ML and Katzenstein JM

研究文章

Association Study of IVS8TGmTn Polymorphism and Cystic Fibrosis Disease in a Tunisian Population

• Sahli Chaima, Hadj Fredj Sondess, Dabboubi Rym, Bousseta Khedija, Mehrzi Ahmed, Messaoud Taieb

案例报告

Identification of a Novel Mutation in the Human ARSB Gene on Chromosome 5q14.1 for Autosomal Recessive Mucopolysaccharidosis Type VI Patients in Southwest Colombia

• Acosta MA, Lago RM,Barros F,Carracedo AM

研究文章

PROK2 and PNCK – Novel Proteins Present in Follicular Fluid of Mature and Immature Human Oocytes: Preliminary Study

• Burnik Papler T, Verdenik I, Devjak R,Vrtacnik Bokal E

案例报告

Biotinidase Deficiency Presenting as Hyperventilation Syndrome

• Iwanicka-Pronicka K, Pajdowska M, Dariusz Rokicki, Piekutowska-Abramczuk D, Kozlowski D,Wisniewska-Ligier D, Ksiazyk JB, Krajewska-Walasek M, Wolf B and Pronicka E