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Duodecim; Laaketieteellinen Aikakauskirja|April 11, 2012
[Marfan syndrome]Ilkka Kaitila, Eero Jokinen, Jorma KokkonenJournal of Pediatric Surgery|October 31, 2002
Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosisOuti Mäkitie, Marja Heikkinen, Ilkka Kaitila, et al.The Annals of Otology, Rhinology, and Laryngology|October 23, 2002
Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide surveyKaija Kuurila, Ilkka Kaitila, Reijo Johansson, et al.Journal of Clinical Gastroenterology|December 23, 2008
Three-generation familial visceral myopathy with alpha-actin-positive inclusion bodies in intestinal smooth muscleTaina Sipponen, Riitta Karikoski, Hannu Nuutinen, et al.Frontiers in Endocrinology|March 21, 2022
A Novel Osteochondrodysplasia With Empty Sella Associates With a <i>TBX2</i> VariantRiikka E Mäkitie, Sanna Toiviainen-Salo, Ilkka Kaitila, et al.American Journal of Human Genetics|August 19, 2007
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrumChristian T Thiel, Geert Mortier, Ilkka Kaitila, et al.Journal of Neurosurgery|September 12, 2006
Skull base abnormalities in osteogenesis imperfecta: a cephalometric evaluation of 54 patients and 108 control volunteersOuti Kovero, Seppo Pynnönen, Kaija Kuurila-Svahn, et al.American Journal of Medical Genetics. Part A|August 14, 2008
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinomaMervi Taskinen, Annamari Ranki, Eero Pukkala, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 31, 2003
The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish casesMaaret Ridanpää, Pawan Jain, Victor A McKusick, et al.European Journal of Human Genetics : EJHG|July 11, 2002
Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRPMaaret Ridanpää, Pertti Sistonen, Susanna Rockas, et al.Pageof 3