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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2008 | 1 |
2009 | 3 |
2024 | 0 |
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4 results
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Page 1
The molecular and genetic mechanisms of neocortex development.
Clin Perinatol. 2009 Sep;36(3):503-12. doi: 10.1016/j.clp.2009.06.008.
Clin Perinatol. 2009.
PMID: 19732610
Free PMC article.
Review.
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, D'Arrigo S, Emma F, Fazzi E, Gallizzi R, Gentile M, Loncarevic D, Mejaski-Bosnjak V, Pantaleoni C, Rigoli L, Salpietro CD, Signorini S, Stringini GR, Verloes A, Zabloka D, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group.
Brancati F, et al.
Hum Mutat. 2009 Feb;30(2):E432-42. doi: 10.1002/humu.20924.
Hum Mutat. 2009.
PMID: 19058225
Free PMC article.
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Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy.
Lancaster MA, Louie CM, Silhavy JL, Sintasath L, Decambre M, Nigam SK, Willert K, Gleeson JG.
Lancaster MA, et al.
Nat Med. 2009 Sep;15(9):1046-54. doi: 10.1038/nm.2010. Epub 2009 Aug 30.
Nat Med. 2009.
PMID: 19718039
Free PMC article.
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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM.
Brancati F, et al.
Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28.
Clin Genet. 2008.
PMID: 18565097
Free PMC article.
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