Medizinische Genetik

Medizinische Genetik

医学遗传学

  • 4区 中科院分区
  • Q4 JCR分区

高引用文章

文章名称 引用次数
Disorders of spermatogenesis Perspectives for novel genetic diagnostics after 20 years of unchanged routine 30
Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis 20
Clinical and genetic aspects of Mayer-Rokitansky-Kuster-Hauser syndrome 9
Genetics of autosomal recessive intellectual disability 8
Autosomal dominant intellectual disability 7
The genetics of atypical hemolytic uremic syndrome 6
Long-read sequencing in human genetics 5
Contemporary history of human genetics in Germany. State of research and research issues 2
Congenital anomalies of the kidney and urinary tract (CAKUT) 2
Non-invasive molecular genetic prenatal tests (NIPT) for detection of trisomy 18 and 21 1
Huntington disease 1
Results of the survey on the state of medical training in human genetics in Germany 1
Hereditary hypophosphatemic rickets New aspects of pathogenesis, diagnosis, and treatment 1
Chromosomes in the DNA era: Perspectives in diagnostics and research 1
NGS: Past, present and future 1
New regulations for specialist training in medical genetics Focus on skills development 1
Integration of modern teaching methods into Human Genetics classes in Tubingen 1
Diagnostics of genetic epilepsies 0
29th Annual Meeting of the German Society for Human Genetics together with the Austrian Society for Human Genetics and the Swiss Society for Medical Genetics from 14th to 16th March in Muenster Abstracts 0
Genetics of malformations in cortical development 0
Prenatal diagnosis-classical analytical methods by means of chorionic villi sampling and amniocentesis 0
Challenge of variant classification: The example of long QT syndrome 0
The role of rare variants in common diseases 0
Next-generation sequencing in epigenetics 0
Molecular diagnostics of Mendelian disorders via combined DNA and RNA sequencing 0
Diagnostics of rare diseases with next generation sequencing-arrived at the patients or rejected? 0
Osteogenesis imperfecta: Pathophysiology and current treatment strategies 0
30th GfH Annual Meeting of the German Society of Human Genetics Abstracts 0
Genetics and future therapy prospects of fibrodysplasia ossificans progressiva 0
Clinical bioinformatics analysis in intellectual disability 0
Disorders of renal NaCl transport and implications for blood pressure regulation 0
Conference Report TGA 2018 Radisson Blu Park Hotel & Conference Centre Radebeul, Saal Dresden//Saal Meissen Abstracts 0
Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies 0
Personal dignity in prenatal ethics 0
Preimplantation testing for monogenic disorders at the PGD centre Regensburg 0
Epidermolysis bullosa hereditaria 0
The NCL Foundation is committed to a Future without Childhood Dementia 0
The Tom Wahlig Foundation introduces itself 0
Genetics of Alzheimer's disease 0
Hereditary spastic paraplegias: current knowledge and developments 0
Neurodegenerative diseases of childhood 0
Focus of rare Diseases. New Findings on Clinic and Genetics 0
Parkinson's disease 0
S2k Guideline Human Genetic Diagnostics and Genetic Counseling 0
Nephronophthisis and related ciliopathies 0
Genetic kidney stone disesases 0
Hereditary cystic kidney diseases: autosomal dominant and autosomal recessive polycystic kidney disease (ADPKD and ARPKD) 0
Steroid-resistent nephrotic syndrome 0
Genetic causes and therapy in Alport Syndrome 0
Monogenic forms of arterial hypertension 0