Your search returned 8 results.

Results
	1.	Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies. [electronic resource] by Leon, Eyby Diaz, Jullianne Castilla-Vallmanya, Laura Grinberg, Daniel Balcells, Susanna Urreizti, Roser Producer: 20201228 In: American journal of medical genetics. Part A vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	The [electronic resource] by Urreizti, Roser Gürsoy, Semra Castilla-Vallmanya, Laura Cunill, Guillem Rabionet, Raquel Erçal, Derya Grinberg, Daniel Balcells, Susana Publication details: Clinical case reports Aug 2018 In: Clinical case reports vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Case report of a child bearing a novel deleterious splicing variant in PIGT. [electronic resource] by Mason, Samantha Castilla-Vallmanya, Laura James, Con Andrews, P Ian Balcells, Susana Grinberg, Daniel Kirk, Edwin P Urreizti, Roser Producer: 20190311 In: Medicine vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome. [electronic resource] by Urreizti, Roser Damanti, Sarah Esteve, Carla Franco-Valls, Héctor Castilla-Vallmanya, Laura Tonda, Raul Cormand, Bru Vilageliu, Lluïsa Opitz, John M Neri, Giovanni Grinberg, Daniel Balcells, Susana Producer: 20181120 In: Scientific reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development. [electronic resource] by Benetó, Noelia Cozar, Monica Castilla-Vallmanya, Laura Zetterdahl, Oskar G Sacultanu, Madalina Segur-Bailach, Eulalia García-Morant, María Ribes, Antonia Ahlenius, Henrik Grinberg, Daniel Vilageliu, Lluïsa Canals, Isaac Publication details: Journal of clinical medicine Feb 2020 In: Journal of clinical medicine vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. [electronic resource] by Urreizti, Roser Mayer, Klaus Evrony, Gilad D Said, Edith Castilla-Vallmanya, Laura Cody, Neal A L Plasencia, Guillem Gelb, Bruce D Grinberg, Daniel Brinkmann, Ulrich Webb, Bryn D Balcells, Susanna Publication details: European journal of human genetics : EJHG Jan 2020 In: European journal of human genetics : EJHG vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. [electronic resource] by Urreizti, Roser Mayer, Klaus Evrony, Gilad D Said, Edith Castilla-Vallmanya, Laura Cody, Neal A L Plasencia, Guillem Gelb, Bruce D Grinberg, Daniel Brinkmann, Ulrich Webb, Bryn D Balcells, Susanna Producer: 20210203 In: European journal of human genetics : EJHG vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum. [electronic resource] by Urreizti, Roser Lopez-Martin, Estrella Martinez-Monseny, Antonio Pujadas, Montse Castilla-Vallmanya, Laura Pérez-Jurado, Luis Alberto Serrano, Mercedes Natera-de Benito, Daniel Martínez-Delgado, Beatriz Posada-de-la-Paz, Manuel Alonso, Javier Marin-Reina, Purificación O'Callaghan, Mar Grinberg, Daniel Bermejo-Sánchez, Eva Balcells, Susanna Producer: 20210618 In: Orphanet journal of rare diseases vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)