Measurement of asthma control according to global initiative for asthma guidelines: a comparison with the asthma control questionnaire

מאת Olaguibel, José María, Quirce, Santiago, Juliá, Berta, Fernández, Cristina, Fortuna, Ana María, Molina, Jesús, Plaza, Vicente
יצא לאור 2012

A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis

מאת Jorge, Paula, Mota-Freitas, Maria Manuela, Santos, Rosário, Silva, Maria Luz, Soares, Gabriela, Fortuna, Ana Maria
הוצא לאור ב J Clin Med (2014)

Exhaled Nitric Oxide Fraction as an Add-On to ACQ-7 for Not Well Controlled Asthma Detection

מאת Plaza, Vicente, Ramos-Barbón, David, Muñoz, Ana María, Fortuna, Ana María, Crespo, Astrid, Murio, Cristina, Palomino, Rosa
יצא לאור 2013

A Randomized Controlled Trial of Continuous Positive Airway Pressure on Glucose Tolerance in Obese Patients with Obstructive Sleep Apnea

מאת Salord, Neus, Fortuna, Ana Maria, Monasterio, Carmen, Gasa, Mercè, Pérez, Antonio, Bonsignore, Maria R., Vilarrasa, Núria, Montserrat, Josep Maria, Mayos, Mercedes
הוצא לאור ב Sleep (2016)

Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease – A Rare Case Concerning PMM2 Gene Pleiotropy

מאת Soares, Ana Rita, Figueiredo, Catarina Matos, Quelhas, Dulce, Silva, Ermelinda Santos, Freitas, Joana, Oliveira, Maria João, Faria, Sameiro, Fortuna, Ana Maria, Borges, Teresa
הוצא לאור ב Eur Endocrinol (2020)

Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB

מאת Maia, Nuno, Soares, Ana Rita, Fortuna, Ana Maria, Marques, Isabel, Gonçalves, Ana, Santos, Rosário, Melo Pires, Manuel, de Brouwer, Arjan P. M., Jorge, Paula
הוצא לאור ב Clin Case Rep (2020)

Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels

מאת Sá, Maria João Nabais, Rocha, Júlio C., Almeida, Manuela F., Carmona, Carla, Martins, Esmeralda, Miranda, Vasco, Coutinho, Miguel, Ferreira, Rita, Pacheco, Sara, Laranjeira, Francisco, Ribeiro, Isaura, Fortuna, Ana Maria, Lacerda, Lúcia
הוצא לאור ב JIMD Rep (2015)

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

מאת Marques, Isabel, Sá, Maria João, Soares, Gabriela, Mota, Maria do Céu, Pinheiro, Carla, Aguiar, Lisa, Amado, Marta, Soares, Christina, Calado, Angelina, Dias, Patrícia, Sousa, Ana Berta, Fortuna, Ana Maria, Santos, Rosário, Howell, Katherine B, Ryan, Monique M, Leventer, Richard J, Sachdev, Rani, Catford, Rachael, Friend, Kathryn, Mattiske, Tessa R, Shoubridge, Cheryl, Jorge, Paula
הוצא לאור ב Mol Genet Genomic Med (2015)

Genomic imbalances defining novel intellectual disability associated loci

מאת Lopes, Fátima, Torres, Fátima, Soares, Gabriela, Barbosa, Mafalda, Silva, João, Duque, Frederico, Rocha, Miguel, Sá, Joaquim, Oliveira, Guiomar, Sá, Maria João, Temudo, Teresa, Sousa, Susana, Marques, Carla, Lopes, Sofia, Gomes, Catarina, Barros, Gisela, Jorge, Arminda, Rocha, Felisbela, Martins, Cecília, Mesquita, Sandra, Loureiro, Susana, Cardoso, Elisa Maria, Cálix, Maria José, Dias, Andreia, Martins, Cristina, Mota, Céu R., Antunes, Diana, Dupont, Juliette, Figueiredo, Sara, Figueiroa, Sónia, Gama-de-Sousa, Susana, Cruz, Sara, Sampaio, Adriana, Eijk, Paul, Weiss, Marjan M., Ylstra, Bauke, Rendeiro, Paula, Tavares, Purificação, Reis-Lima, Margarida, Pinto-Basto, Jorge, Fortuna, Ana Maria, Maciel, Patrícia
הוצא לאור ב Orphanet J Rare Dis (2019)

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

מאת Koolen, David A, Pfundt, Rolph, Linda, Katrin, Beunders, Gea, Veenstra-Knol, Hermine E, Conta, Jessie H, Fortuna, Ana Maria, Gillessen-Kaesbach, Gabriele, Dugan, Sarah, Halbach, Sara, Abdul-Rahman, Omar A, Winesett, Heather M, Chung, Wendy K, Dalton, Marguerite, Dimova, Petia S, Mattina, Teresa, Prescott, Katrina, Zhang, Hui Z, Saal, Howard M, Hehir-Kwa, Jayne Y, Willemsen, Marjolein H, Ockeloen, Charlotte W, Jongmans, Marjolijn C, Van der Aa, Nathalie, Failla, Pinella, Barone, Concetta, Avola, Emanuela, Brooks, Alice S, Kant, Sarina G, Gerkes, Erica H, Firth, Helen V, Õunap, Katrin, Bird, Lynne M, Masser-Frye, Diane, Friedman, Jennifer R, Sokunbi, Modupe A, Dixit, Abhijit, Splitt, Miranda, Kukolich, Mary K, McGaughran, Julie, Coe, Bradley P, Flórez, Jesús, Nadif Kasri, Nael, Brunner, Han G, Thompson, Elizabeth M, Gecz, Jozef, Romano, Corrado, Eichler, Evan E, de Vries, Bert BA
הוצא לאור ב Eur J Hum Genet (2016)