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Page 1
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
Limaye N, Revencu N, Van Regemorter N, Garzon M, Bonduelle M, Chung W, Daras MD, Fahey MC, Garrett C, Gillerot Y, Gillessen-Kaesbach G, Giménez-Arnau A, Guzzetta F, Battaglia D, Heimdal K, Lissens W, Taub E, Van Maldergem L, Van Paesschen W, Wieczorek D, Wood NW, Boon L, Vikkula M. Limaye N, et al. Among authors: heimdal k. Hum Genet. 2007 Dec;122(5):552. Hum Genet. 2007. PMID: 18383596 No abstract available.
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.
Rama M, Duflos C, Melki I, Bessis D, Bonhomme A, Martin H, Doummar D, Valence S, Rodriguez D, Carme E, Genevieve D, Heimdal K, Insalaco A, Franck N, Queyrel-Moranne V, Tieulie N, London J, Uettwiller F, Georgin-Lavialle S, Belot A, Koné-Paut I, Hentgen V, Boursier G, Touitou I, Sarrabay G. Rama M, et al. Among authors: heimdal k. Eur J Hum Genet. 2018 Jul;26(7):960-971. doi: 10.1038/s41431-018-0130-6. Epub 2018 Apr 23. Eur J Hum Genet. 2018. PMID: 29681619 Free PMC article.
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
Heimdal K, Sanchez-Guixé M, Aukrust I, Bollerslev J, Bruland O, Jablonski GE, Erichsen AK, Gude E, Koht JA, Erdal S, Fiskerstrand T, Haukanes BI, Boman H, Bjørkhaug L, Tallaksen CM, Knappskog PM, Johansson S. Heimdal K, et al. Orphanet J Rare Dis. 2014 Sep 26;9:146. doi: 10.1186/s13023-014-0146-0. Orphanet J Rare Dis. 2014. PMID: 25258038 Free PMC article.
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
Limaye N, Revencu N, Van Regemorter N, Garzon M, Bonduelle M, Chung W, Daras MD, Fahey MC, Garrett C, Gillerot Y, Gillessen-Kaesbach G, Giménez-Arnau A, Guzzetta F, Battaglia D, Heimdal K, Lissens W, Taub E, Van Maldergem L, Van Paesschen W, Wieczorek D, Wood NW, Boon L, Vikkula M. Limaye N, et al. Among authors: heimdal k. Hum Genet. 2007 Dec;122(5):552. Hum Genet. 2007. PMID: 18383597 No abstract available.
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
Limaye N, Revencu N, Van Regemorter N, Garzon M, Bonduelle M, Chung W, Daras MD, Fahey MC, Garrett C, Gillerot Y, Gillessen-Kaesbach G, Giménez-Arnau A, Guzzetta F, Battaglia D, Heimdal K, Lissens W, Taub E, Van Maldergem L, Van Paesschen W, Wieczorek D, Wood NW, Boon L, Vikkula M. Limaye N, et al. Among authors: heimdal k. Hum Genet. 2007 Dec;122(5):550. Hum Genet. 2007. PMID: 18383588 No abstract available.
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
Limaye N, Revencu N, Van Regemorter N, Garzon M, Bonduelle M, Chung W, Daras MD, Fahey MC, Garrett C, Gillerot Y, Gillessen-Kaesbach G, Giménez-Arnau A, Guzzetta F, Battaglia D, Heimdal K, Lissens W, Taub E, Van Maldergem L, Van Paesschen W, Wieczorek D, Wood NW, Boon L, Vikkula M. Limaye N, et al. Among authors: heimdal k. Hum Genet. 2007 Dec;122(5):552. Hum Genet. 2007. PMID: 18383594 No abstract available.
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: heimdal k. 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.
143 results