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Yeni Nesil Dna Dizileme Yöntemi İle Tüm Ekzom Ve Genom Dizileme
UploadDefining mitochondrial protein functions through deep multiomic profiling
Download from www.nature.comHEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia
Download from ashpublications.orgHematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients
UploadMechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1
Download from doi.orgAnalysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome
Download from www.nature.comCRIM1 haploinsufficiency causes defects in eye development in human and mouse
Download from www.ncbi.nlm.nih.govTMCO1 Deficiency Causes Autosomal Recessive Cerebrofaciothoracic Dysplasia
Download from www.researchgate.netMutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis
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