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Items: 6

1.

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Müller F, Maher ER, Barr FA, Aligianis IA.

Am J Hum Genet. 2011 Apr 8;88(4):499-507. doi: 10.1016/j.ajhg.2011.03.012. Erratum in: Am J Hum Genet. 2011 May 13;88(5):678. Bond, Frances F [corrected to Bond, Frances C].

2.

RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.

Handley MT, Aligianis IA.

Biochem Soc Trans. 2012 Dec 1;40(6):1394-7. doi: 10.1042/BST20120169. Review.

PMID:
23176487
3.

Genetic disorders associated with postnatal microcephaly.

Seltzer LE, Paciorkowski AR.

Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):140-55. doi: 10.1002/ajmg.c.31400. Epub 2014 May 16. Review.

PMID:
24839169
4.

Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders.

Corbeel L, Freson K.

Eur J Pediatr. 2008 Jul;167(7):723-9. doi: 10.1007/s00431-008-0740-z. Epub 2008 May 8. Review.

5.

Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.

de Goede C, Yue WW, Yan G, Ariyaratnam S, Chandler KE, Downes L, Khan N, Mohan M, Lowe M, Banka S.

Eur J Paediatr Neurol. 2016 Mar;20(2):286-295. doi: 10.1016/j.ejpn.2015.11.012. Epub 2015 Dec 18. Review.

PMID:
26748598
6.

Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature.

Agopiantz M, Corbonnois P, Sorlin A, Bonnet C, Klein M, Hubert N, Pascal-Vigneron V, Jonveaux P, Cuny T, Leheup B, Weryha G.

J Endocrinol Invest. 2014 Jan;37(1):1-7. doi: 10.1007/s40618-013-0001-5. Epub 2014 Jan 8. Review.

PMID:
24464444

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