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	1.	Phenotyping GABA transaminase deficiency: a case description and literature review. [electronic resource] by Louro, Pedro Ramos, Lina Robalo, Conceição Cancelinha, Cândida Dinis, Alexandra Veiga, Ricardo Pina, Raquel Rebelo, Olinda Pop, Ana Diogo, Luísa Salomons, Gajja S Garcia, Paula Producer: 20171206 In: Journal of inherited metabolic disease vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. [electronic resource] by Kharbanda, Mira Pilz, Daniela T Tomkins, Susan Chandler, Kate Saggar, Anand Fryer, Alan McKay, Victoria Louro, Pedro Smith, Jill Clayton Burn, John Kini, Usha De Burca, Anna FitzPatrick, David R Kinning, Esther Producer: 20170210 In: European journal of medical genetics vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. [electronic resource] by Ockeloen, Charlotte W Willemsen, Marjolein H de Munnik, Sonja van Bon, Bregje W M de Leeuw, Nicole Verrips, Aad Kant, Sarina G Jones, Elizabeth A Brunner, Han G van Loon, Rosa L E Smeets, Eric E J van Haelst, Mieke M van Haaften, Gijs Nordgren, Ann Malmgren, Helena Grigelioniene, Giedre Vermeer, Sascha Louro, Pedro Ramos, Lina Maal, Thomas J J van Heumen, Celeste C Yntema, Helger G Carels, Carine E L Kleefstra, Tjitske Producer: 20160524 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Further delineation of the KBG syndrome caused by ANKRD11 aberrations. [electronic resource] by Ockeloen, Charlotte W Willemsen, Marjolein H de Munnik, Sonja van Bon, Bregje W M de Leeuw, Nicole Verrips, Aad Kant, Sarina G Jones, Elizabeth A Brunner, Han G van Loon, Rosa L E Smeets, Eric E J van Haelst, Mieke M van Haaften, Gijs Nordgren, Ann Malmgren, Helena Grigelioniene, Giedre Vermeer, Sascha Louro, Pedro Ramos, Lina Maal, Thomas J J van Heumen, Celeste C Yntema, Helger G Carels, Carine E L Kleefstra, Tjitske Producer: 20151022 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)