机译:进一步扩展突变谱和3M综合征基因型表型相关性的研究
Department of Pediatric GeneticsHacettepe University Faculty of MedicineAnkara Turkey;
Department of Medical GeneticsHacettepe University Faculty of MedicineAnkara Turkey;
Department of Medical GeneticsHacettepe University Faculty of MedicineAnkara Turkey;
Department of Health ResearchInstitute of Public Health Hacettepe UniversityAnkara Turkey;
Department of GeneticsINSERM UMR 1163 Université Paris Descartes‐Sorbonne Paris Cité Institut;
Department of Pediatric EndocrinologyHacettepe University Faculty of MedicineAnkara Turkey;
Department of Pediatric EndocrinologyHacettepe University Faculty of MedicineAnkara Turkey;
Department of Pediatric EndocrinologyHacettepe University Faculty of MedicineAnkara Turkey;
Department of Pediatric EndocrinologyHacettepe University Faculty of MedicineAnkara Turkey;
Department of Pediatric GeneticsHacettepe University Faculty of MedicineAnkara Turkey;
Department of Pediatric GeneticsHacettepe University Faculty of MedicineAnkara Turkey;
Department of Pediatric GeneticsHacettepe University Faculty of MedicineAnkara Turkey;
Department of Pediatric GeneticsHacettepe University Faculty of MedicineAnkara Turkey;
20p13p12.3 deletion; 3M syndrome; BMP2; CUL7; genotype–phenotype correlation; OBSL1;
机译:进一步扩展突变谱和3M综合征基因型表型相关性的研究
机译:GLI3基因的扩大突变谱证实了基因型与表型的相关性。
机译:Noonan综合征中的SOS1突变:分子光谱,对致病作用的结构见解以及基因型与表型的相关性。
机译:Fibrillin-1基因突变患者的基因型与表型相关性
机译:罕见CFTR错义突变的功能研究有助于解释基因型与表型的关系。
机译:与MYH9相关的疾病:五个新颖的突变扩大了致病突变的范围并证实了基因型/表型的相关性
机译:与MYH9相关的疾病:五个新颖的突变扩大了致病突变的范围并证实了基因型/表型的相关性