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机译:HNRNPH1 HNRNPH1 HNRNPH1 - 相关综合征智力障碍:七种额外案例暗示着一种不同的综合征神经发育综合征
Department of Human and Molecular GeneticsClinical Genetics Services VCU HealthRichmond Virginia;
Department of Human and Molecular GeneticsClinical Genetics Services VCU HealthRichmond Virginia;
Department of PathologyVCU HealthRichmond Virginia USA;
Department of GeneticsUniversity Medical Center UtrechtUtrecht The Netherlands;
Department of GeneticsUniversity Medical Center UtrechtUtrecht The Netherlands;
Department of GeneticsUniversity Medical Center UtrechtUtrecht The Netherlands;
Pediatric Neurology Department Vall d'Hebron University HospitalUniversitat Autònoma de Barcelona;
Neurometabolic Diseases LaboratoryBellvitge Biomedical Research Institute (IDIBELL) Hospitalet de;
Neurometabolic Diseases LaboratoryBellvitge Biomedical Research Institute (IDIBELL) Hospitalet de;
Neurometabolic Diseases LaboratoryBellvitge Biomedical Research Institute (IDIBELL) Hospitalet de;
Neurometabolic Diseases LaboratoryBellvitge Biomedical Research Institute (IDIBELL) Hospitalet de;
Neurometabolic Diseases LaboratoryBellvitge Biomedical Research Institute (IDIBELL) Hospitalet de;
Laboratorio Genetica Medica ASST Papa Giovanni XXIIIBergamo Italy;
Clinical Pediatric Genetic Unit Pediatric ClinicFondazione MBBM San Gerardo HospitalMonza Italy;
Oxford Centre for Genomic MedicineOxford University Hospitals NHS Foundation TrustOxford UK;
Oxford Centre for Genomic MedicineOxford University Hospitals NHS Foundation TrustOxford UK;
College of Medicine and HealthUniversity of Exeter Medical SchoolExeter UK;
Genomics LaboratoryRoyal Devon and Exeter NHS Foundation TrustExeter UK;
Department of PediatricsUniversity of Maryland School of MedicineBaltimore Maryland USA;
Department of Human and Molecular GeneticsClinical Genetics Services VCU HealthRichmond Virginia;
congenital abnormalities; HNRNPH1 gene; intellectual disability; microcephaly; whole exome sequencing;
机译:HNRNPH1 HNRNPH1 HNRNPH1 - 相关综合征智力障碍:七种额外案例暗示着一种不同的综合征神经发育综合征
机译:具有智力残疾,自闭症谱系障碍,特征相和宏观症的不同的神经发育综合征是由CHD8中的缺陷引起的
机译:突变C.925C> MECP2中的T(P.ARG309TRP)导致综合征的智力残疾形式与RETT综合征不同
机译:磁化转移率(MTR)提示多发性硬化的临床孤立综合征(CIS)患者脑组织病理学改变的预后价值
机译:在寻找一种新的常染色体隐性非综合征性智力障碍的病因。
机译:智力障碍的遗传学进展:与基因剂量异常相关的神经发育障碍:Smith–Magenis和Potocki–Lupski综合征
机译:HNRNPH1 - 相关综合征智力障碍:七种额外案例暗示着一种不同的综合征神经发育综合征