Lies H. Hoefsloot

1. Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome
   2008/04/08 by Jorieke E. H. Bergman, Jorieke E.H. Bergman, Ilse de Wijs +6 · 32 citations
   Medicine · #Biology #CHARGE syndrome #Charge (physics) #Congenital Ear and Nasal Anomalies #Exon #Gene #Gene duplication #Genetics #Head and Neck Surgical Oncology #Multiplex ligation-dependent probe amplification #Mutation #Physics #Tracheal and airway disorders
2. Mutations in CHD7 in patients with CHARGE syndrome cause T–B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome
   2008/05/26 by Andrew R. Gennery, Mary Slatter, Jason Rice +10 · 120 citations
   Immunology and Microbiology · Medicine · #Antibody #Biology #Common variable immunodeficiency #Congenital Ear and Nasal Anomalies #Disease #Erythroderma #Gene #Genetics #Hepatosplenomegaly #Immune system #Immunodeficiency #Immunodeficiency and Autoimmune Disorders #Immunology #Medicine #Pathology #Primary immunodeficiency #RAG2 #Severe combined immunodeficiency #Tracheal and airway disorders
3. 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
4. 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