Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients von Buendia-Martinez, Juan, Barreda-Sanchez, Maria, Rodriguez-Pena, Lidya, Juliana Ballesta-Martinez, Maria, Lopez-Gonzalez, Vanesa, Jose Sanchez-Soler, Maria, Teresa Serrano-Anton, Ana, Elena Perez-Tomas, Maria, Gil-Ferrer, Remedios, Aviles-Plaza, Francisco, Glover-Lopez, Guillermo, Carazo-Diaz, Carmen, Guillen-Navarro, Encarna

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Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice von Ballesta-Martínez, María Juliana, Pérez-Fernández, Virginia, López-González, Vanesa, Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, Rodríguez-Peña, Lidia Isolina, Barreda-Sánchez, Maria, Armengol-Dulcet, Lluís, Guillén-Navarro, Encarna

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High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor von Barreda-Sánchez, María, Buendía-Martínez, Juan, Glover-López, Guillermo, Carazo-Díaz, Carmen, Ballesta-Martínez, María Juliana, López-González, Vanesa, Sánchez-Soler, María José, Rodriguez-Peña, Lidya, Serrano-Antón, Ana Teresa, Gil-Ferrer, Remedios, Martínez-Romero, Maria Del Carmen, Carbonell-Meseguer, Pablo, Guillén-Navarro, Encarna

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EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population von Martínez-Romero, María Carmen, Ballesta-Martínez, María Juliana, López-González, Vanesa, Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, Barreda-Sánchez, María, Rodriguez-Peña, Lidya, Martínez-Menchon, María Teresa, Frías-Iniesta, José, Sánchez-Pedreño, Paloma, Carbonell-Meseguer, Pablo, Glover-López, Guillermo, Guillén-Navarro, Encarna

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The Expanding Phenotypical Spectrum of WARS2 -Related Disorder: Four Novel Cases with a Common Recurrent Variant von Pauly, Martje G, Korenke, G Christoph, Diaw, Sokhna Haissatou, Grözinger, Anne, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, González, Victoria, Macaya, Alfons, Serrano Antón, Ana Teresa, Peterlin, Borut, Božović, Ivana Babić, Maver, Aleš, Münchau, Alexander, Lohmann, Katja

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First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene von Jose Sanchez-Soler, Maria, Teresa Serrano-Anton, Ana, Lopez-Gonzalez, Vanesa, Ballesta Martinez, Maria Juliana, Guillen-Navarro, Encarna

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First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by biallelic mutations in the OTUD6B gene von Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, López-González, Vanesa, Ballesta Martínez, María Juliana, Guillén-Navarro, Encarna

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Expresividad extremadamente variable en el síndrome de Smith-Lemli-Opitz: revisión de 4 casos clínicos von Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, López-González, Vanesa, Ballesta-Martínez, María Juliana, Guillén-Navarro, Encarna

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Primer caso español de discapacidad intelectual sindrómica con dismorfia facial, crisis y anomalías de extremidades por mutaciones bialélicas en el gen OTUD6B von Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, López-González, Vanesa, Ballesta Martínez, María Juliana, Guillén-Navarro, Encarna

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Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review von Pascual, Patricia, Tenorio-Castano, Jair, Mignot, Cyril, Afenjar, Alexandra, Arias, Pedro, Gallego-Zazo, Natalia, Parra, Alejandro, Miranda, Lucia, Cazalla, Mario, Silván, Cristina, Heron, Delphine, Keren, Boris, Popa, Ioana, Palomares, María, Rikeros, Emi, Ramos, Feliciano J., Almoguera, Berta, Ayuso, Carmen, Swafiri, Saoud Tahsin, Barbero, Ana Isabel Sánchez, Srinivasan, Varunvenkat M., Gowda, Vykuntaraju K., Morleo, Manuela, Nigro, Vicenzo, D’Arrigo, Stefano, Ciaccio, Claudia, Martin Mesa, Carmen, Paumard, Beatriz, Guillen, Gema, Anton, Ana Teresa Serrano, Jimenez, Marta Domínguez, Seidel, Veronica, Suárez, Julia, Cormier-Daire, Valerie, Consortium, The SOGRI, Nevado, Julián, Lapunzina, Pablo

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The Expanding Phenotypical Spectrum of IWARS2/I-Related Disorder: Four Novel Cases with a Common Recurrent Variant von Pauly, Martje G, Korenke, G. Christoph, Diaw, Sokhna Haissatou, Grözinger, Anne, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, González, Victoria, Macaya, Alfons, Serrano Antón, Ana Teresa, Peterlin, Borut, Božović, Ivana Babić, Maver, Aleš, Münchau, Alexander, Lohmann, Katja

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Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases von Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, López-González, Vanesa, Ballesta-Martínez, María Juliana, Guillén-Navarro, Encarna

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High penetrance of acute intermittent in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor von Barreda-Sánchez, María, Buendía-Martínez, Juan, Glover-López, Guillermo, Carazo-Díaz, Carmen, Ballesta-Martínez, María Juliana, López-González, Vanesa, Sánchez-Soler, María José, Rodriguez-Peéa, Lidya, Serrano-Antón, Ana Teresa, Gil-Ferrer, Remedios, Martínez-Romero, Maria del Carmen, Carbonell-Meseguer, Pablo, Guillén-Navarro, Encarna

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Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases von María José Sánchez-Soler, Ana Teresa Serrano-Antón, Vanesa López-González, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro

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Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases von Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, López-González, Vanesa, Ballesta-Martínez, María Juliana, Guillén-Navarro, Encarna

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Arthralgias and Articular Hyperlaxitude in Women with Ophthalmopathy and Early Deafness von Gallo Puelles, Francisco, Serrano Anton, Ana Teresa, Lopez Gonzalez, Vanesa, Hurtado Martinez, Jose

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Arthralgias and Articular Hyperlaxitude in Women with Ophthalmopathy and Early Deafness von Gallo Puelles, Francisco, Serrano Anton, Ana Teresa, Lopez Gonzalez, Vanesa, Hurtado Martinez, Jose

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Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in ICHD3/I and Literature Review von Pascual, Patricia, Tenorio-Castano, Jair, Mignot, Cyril, Afenjar, Alexandra, Arias, Pedro, Gallego-Zazo, Natalia, Parra, Alejandro, Miranda, Lucia, Cazalla, Mario, Silván, Cristina, Heron, Delphine, Keren, Boris, Popa, Ioana, Palomares, María, Rikeros, Emi, Ramos, Feliciano J, Almoguera, Berta, Ayuso, Carmen, Swafiri, Saoud Tahsin, Barbero, Ana Isabel Sánchez, Srinivasan, Varunvenkat M, Gowda, Vykuntaraju K, Morleo, Manuela, Nigro, Vicenzo, D’Arrigo, Stefano, Ciaccio, Claudia, Ma, Paumard, Beatriz, Guillen, Gema, Anton, Ana Teresa Serrano, Jimenez, Marta Domínguez, Seidel, Veronica, Suárez, Julia, Cormier-Daire, Valerie, Conso, Nevado, Julián, Lapunzina, Pablo

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The Expanding Phenotypical Spectrum of WARS2 -Related Disorder : Four Novel Cases with a Common Recurrent Variant von Pauly, Martje G, Korenke, G. Christoph, Diaw, Sokhna Haissatou, Grözinger, Anne, Cazurro-Gutiérrez, Ana Laura, Pérez-Dueñas, Belén, González, Victoria, Macaya Ruiz, Alfons, Serrano Antón, Ana Teresa, Peterlin, Borut, Božović, Ivana Babić, Maver, Aleš, Münchau, Alexander, Lohmann, Katja, Universitat Autònoma de Barcelona

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Artralgias e hiperlaxitud articular en mujer con oftalmopatía y sordera precoz von Gallo Puelles, Francisco, Serrano Anton, Ana Teresa, Lopez Gonzalez, Vanesa, Hurtado Martinez, Jose

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