DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine von Santos, Mariana, Cruz, Simão, Peres, João, Santos, Luís, Tavares, Purificação, Basto, Jorge Pinto, Salgado, Vasco, Valverde, Ana Herrero

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Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome von Marshall, Jan D, Hinman, Elizabeth G, Collin, Gayle B, Beck, Sebastian, Cerqueira, Rita, Maffei, Pietro, Milan, Gabriella, Zhang, Weidong, Wilson, David I, Hearn, Tom, Tavares, Purificação, Vettor, Roberto, Veronese, Caterina, Martin, Mitchell, So, W. Venus, Nishina, Patsy M, Naggert, Jürgen K

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Cat eye syndrome and growth hormone deficiency with pituitary anomalies: A case report and review of the literature von Melo, Cláudia, Gama-de-Sousa, Susana, Almeida, Filipa, Rendeiro, Paula, Tavares, Purificação, Cardoso, Helena, Carvalho, Sónia

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Instability of mRNA expression signatures of drug transporters in chronic myeloid leukemia patients resistant to imatinib von GROMICHO, MARTA, MAGALHÃES, MARTA, TORRES, FÁTIMA, DINIS, JOANA, FERNANDES, ALEXANDRA R, RENDEIRO, PAULA, TAVARES, PURIFICAÇÃO, LAIRES, ANTÓNIO, RUEFF, JOSÉ, RODRIGUES, ANTÓNIO SEBASTIÃO

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Different manifestations of class II division 2 incisor retroclination and their association with dental anomalies von Pereira, Pedro Mariano, Ferreira, Afonso Pinhão, Tavares, Purificação, Braga, Ana Cristina

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Developmental absence of maxillary lateral incisors in the Portuguese population von Pinho, Teresa, Tavares, Purificação, Maciel, Patrícia, Pollmann, Cristina

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The contribution of 7q33 copy number variations for intellectual disability von Lopes, Fátima Daniela Teixeira, Torres, Fátima, Lynch, Sally Ann, Jorge, Arminda, Sousa, Susana, Silva, João, Rendeiro, Paula, Tavares, Purificação, Fortuna, Ana Maria, Maciel, P.

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Different manifestations of Class II Division 2 incisor retroclination: A morphologic study von Mariano Pereira, Pedro, Pinhão Ferreira, Afonso, Tavares, Purificação, Braga, Ana Cristina

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Absent abdominal muscles, nephro-urologic abnormalities, and severe neurologic damage in an infant with 3 chromosomal duplications: A novel syndrome? von Akl, Kamal F., Albaramki, Jumana H., Ghani, Eman A., I. Al Qaisi, Mohammad, Abujaber, Nadeen, Tavares, Purificação

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BCR-ABL V280G Mutation, Potential Role in Imatinib Resistance: First Case Report von Azevedo, Ana P, Reichert, Alice, Afonso, Celina, Alberca, Maria D, Tavares, Purificação, Lima, Fernando

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Genomic imbalances defining novel intellectual disability associated loci von 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

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Genetic susceptibility to maxillary sinus pathology development in the presence of an odontogenic cyst von Pereira, Inês, Vaz, Paula, Almeida, Ricardo F., Tavares, Purificação, Borsatto, Cristina, Felino, António

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The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review von Lopes, Fátima, Torres, Fátima, Soares, Gabriela, van Karnebeek, Clara D, Martins, Cecília, Antunes, Diana, Silva, João, Muttucomaroe, Lauren, Botelho, Luís Filipe, Sousa, Susana, Rendeiro, Paula, Tavares, Purificação, Van Esch, Hilde, Rajcan-Separovic, Evica, Maciel, Patrícia

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An e6a2 BCR-ABL fusion transcript in a CML patient having an iliac chloroma at initial presentation von Torres, Fátima, Ivanova-Dragoeva, Anna, Pereira, Mónica, Veiga, Joana, Rodrigues, António S., Sousa, Aida Botelho, Tavares, Purificação, Fernandes, Alexandra R.

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Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene von Novo, Ana, Guerra, Isabel Couto, Rocha, Felisbela, Gama-de-Sousa, Susana, Borges, Teresa, Cerqueira, Rita, Tavares, Purificação, Fonseca, Paula

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Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene von Rebelo, Marta, Ramos, Leonor, Lima, Jandira, Vieira, J Diniz, Tavares, Purificação, Teixeira, Luísa, Matos, Albuquerque, Costa, J Nascimento

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Measurements in First-Trimester Abortion Products: A Pathologic Study von Nogueira, Rosete, Sousa, Sara, Braga, Ana Cristina, Azevedo, Ana, Pereira, Nuno, Carmo, Olímpia, Tavares, Maria Purificação, Pinto, Jorge Correia

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V280G Mutation, Potential Role in Imatinib Resistance: First Case Report von Ana P Azevedo, Alice Reichert, Celina Afonso, Maria D Alberca, Purificação Tavares, Fernando Lima

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Specificity and sensitivity of S100B levels in amniotic fluid for Down syndrome diagnosis von Tort, Adriano B.L., Portela, Luis V., Tavares, Maria da Purificação, Gonçalves, Carlos A., Netto, Cristina, Giugliani, Roberto, Souza, Diogo O.

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S100B content and SOD activity in amniotic fluid of pregnancies with Down syndrome von Netto, Cristina B, Siqueira, Ionara R, Fochesatto, Cı́ntia, Portela, Luis V, Tavares, Maria da Purificação, Souza, Diogo O, Giugliani, Roberto, Gonçalves, Carlos-Alberto

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