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Man with macrocephaly, learning disability and multiple basal cell carcinomas.
von der Lippe C, Roscher I, Nordgarden H, Rustad C, Larsen SM, Mjøen E, Bratland Å. von der Lippe C, et al. Among authors: rustad c. Tidsskr Nor Laegeforen. 2014 Jun 17;134(11):1151-4. doi: 10.4045/tidsskr.13.0894. eCollection 2014 Jun 17. Tidsskr Nor Laegeforen. 2014. PMID: 24939783 Free article. English, Norwegian.
Phenotypic expansion of ARSK-related mucopolysaccharidosis.
Rustad CF, Prescott TE, Merckoll E, Kristensen E, Salvador CL, Nordgarden H, Tveten K. Rustad CF, et al. Am J Med Genet A. 2022 Nov;188(11):3369-3373. doi: 10.1002/ajmg.a.62934. Epub 2022 Aug 12. Am J Med Genet A. 2022. PMID: 35959767 Free PMC article. No abstract available.
[A newborn infant with hyperventilation].
Lindemann R, Myhre MC, Bakken M, Fugelseth D, Rustad CF, Woldseth B. Lindemann R, et al. Among authors: rustad cf. Tidsskr Nor Laegeforen. 2008 Jun 26;128(13):1535-6. Tidsskr Nor Laegeforen. 2008. PMID: 18604903 Norwegian.
[Re: Special outpatient clinic for skeletal dysplasias].
Rustad C, Bjørndalen H, Myhre AG, Heier CA, Horn J, Knaus A, Hvid I, Merckoll E, Tveiterås M, Westvik J. Rustad C, et al. Tidsskr Nor Laegeforen. 2015 May 5;135(8):736. doi: 10.4045/tidsskr.15.0440. eCollection 2015 May 5. Tidsskr Nor Laegeforen. 2015. PMID: 25947586 Free article. Norwegian. No abstract available.
A woman in her fifties with chronic muscle weakness.
Rustad CF, Tveten K, Braathen GJ, Merckoll E, Kirkhus E, Fossmo HL, Ørstavik K. Rustad CF, et al. Tidsskr Nor Laegeforen. 2022 Jan 7;142(1). doi: 10.4045/tidsskr.21.0038. Print 2022 Jan 11. Tidsskr Nor Laegeforen. 2022. PMID: 35026081 Free article. English, Norwegian.
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M. Hamilton MJ, et al. Among authors: rustad cf. J Med Genet. 2018 Jan;55(1):28-38. doi: 10.1136/jmedgenet-2017-104620. Epub 2017 Oct 11. J Med Genet. 2018. PMID: 29021403 Free PMC article.
The cardiac phenotype in patients with a CHD7 mutation.
Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JE, Hove HD, Heimdal KR, Rustad CF, Hennekam RC, Hofstra RM, Hoefsloot LH, Van Ravenswaaij-Arts CM, Kapusta L. Corsten-Janssen N, et al. Among authors: rustad cf. Circ Cardiovasc Genet. 2013 Jun;6(3):248-54. doi: 10.1161/CIRCGENETICS.113.000054. Circ Cardiovasc Genet. 2013. PMID: 23677905
Germline PTEN mutations are rare and highly penetrant.
Rustad CF, Bjørnslett M, Heimdal KR, Mæhle L, Apold J, Møller P. Rustad CF, et al. Hered Cancer Clin Pract. 2006 Dec 15;4(4):177-85. doi: 10.1186/1897-4287-4-4-177. Hered Cancer Clin Pract. 2006. PMID: 20223021 Free PMC article.
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D, Wordsworth P; Deciphering Developmental Disorders Study; Smithson S. Bownass L, et al. Among authors: rustad cf. Am J Med Genet A. 2019 Sep;179(9):1884-1894. doi: 10.1002/ajmg.a.61282. Epub 2019 Jul 16. Am J Med Genet A. 2019. PMID: 31313512 Free article.
37 results