Ingrid M.B.H. van de Laar

1. Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability
   2007/12/11 by Marjolijn C.J. Jongmans, Lies H. Hoefsloot, Kim P. van der Donk +8 · 86 citations
   Medicine · #Congenital Ear and Nasal Anomalies #Tracheal and airway disorders #Otitis Media and Relapsing Polychondritis #Missense mutation #Germline mosaicism #CHARGE syndrome #Genetics #Germline mutation #Mutation #Exon #Germline #Biology #Phenotype #Somatic cell #Gene
2. Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype
   2007/10/15 by Ingrid M.B.H. van de Laar, Dennis Dooijes, Lies H. Hoefsloot +3 · 31 citations
   Medicine · Biochemistry, Genetics and Molecular Biology · #Congenital Ear and Nasal Anomalies #Tracheal and airway disorders #Congenital heart defects research #CHARGE syndrome #Phenotype #Aplasia #Tibia #Charge (physics) #Lower limb #Gene #Medicine #Biology #Anatomy #Genetics #Surgery #Physics