Eyal Reinstein
- The 2017 international classification of the Ehlers–Danlos syndromes
2017/03/01 by Fransiska Malfait, Clair A. Francomano, Peter H. Byers +42 · 7 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Connective tissue disorders research #Dermatological and Skeletal Disorders #Dermatology #Ehlers–Danlos syndrome #MEDLINE #Medicine #Shoulder Injury and Treatment
- NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
2018/11/01 by Ina Schanze, Jens Bunt, Jonathan W. C. Lim +61 · 25 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · Psychology · #Autism #Autism spectrum disorder #Biology #Corpus callosum #Genetics #Genetics and Neurodevelopmental Disorders #Genomic variations and chromosomal abnormalities #Haploinsufficiency #Macrocephaly #Megalencephaly #Neurodevelopmental disorder #Neuroscience #Phenotype #Psychiatry #Psychology #RNA regulation and disease #Speech delay
- Ehlers–Danlos arthrochalasia type (VIIA–B) – expanding the phenotype: from prenatal life through adulthood
2011/07/29 by Merel Klaassens, Eyal Reinstein, Yvonne Hilhorst‐Hofstee +12 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Connective tissue disorders research #Neurogenetic and Muscular Disorders Research #Bone health and treatments #Phenotype #Genetics #Medicine #Ehlers–Danlos syndrome #Biology #Gene #Surgery