Page 9 - Clinical variability in Noonan syndrome with emphasison ear and eye

Contents
Chapter 1 Chaptteerr21
Chapter 2 Chapter 3
Chaptteerr43
Chapter 5 Chapter 4
Chapter 6 Chapter 5
Chapter 7
Chapter 6 Chapter 8
Chapter 9
Chapter 7
Introduction 9
VarIinatbrloedpuhcteionnotypic expression in a large Noonan syndr1o2me 25
family segregating a novel SOS1 mutation
American Journal of Medical Genetics Part A 2017
Variable phenotypic expression in a large 12
Noonan syndrome family segregating a novel
Ocular Manifestations of Noonan Syndrome: a Prospective Clinical 39
SOS1 mutation. American Journal of Medical
and Genetic Study of 25 Patients
Genetics Part A 2017
Ophthalmology 2016
OcuOlacruflianrdMingasnifneNstoaotinoannssoyfnNdoromnaen;aSryentrdorsopmecet:ivecohorts1t2udy 59 of 105 patients
a Prospective Clinical and Genetic Study of 25
European Journal of Pediatrics - 2018
Patients. Ophthalmology 2016
External ear anomalies and hearing impairment in Noonan 71
Ocular manifestations in Noonan syndrome;
Syndrome
a retrospective cohort study of 105 patients.
International Journal of Pediatric Otorhinolaryngology 2015
European Journal of Pediatrics - 2018
Cochlear implantation and clinical features in patients with 85 Noonan syndrome and Noonan syndrome with multiple lentigines
External ear anomalies and hearing impair-
caused by a mutation in PTPN11
ment in Noonan Syndrome. International
International Journal of Pediatric Otorhinolaryngology 2017
Journal of Pediatric Otorhinolaryngology 2015
Discussion and summary 101
Cochlear implantation and clinical features in
Nederlandse samenvatting 111
patients with Noonan syndrome and Noonan
Appendices
syndrome with multiple lentigines caused by
Curriculum Vitae 120
a mutation in PTPN11 International Journal of
List of publications 121
Pediatric Otorhinolaryngology 2017
Dankwoord 122
Discussion and summary