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Refinado por: Base de dados/Biblioteca: AUC Wiley Frozen Package in 2012 remover Nome da Publicação: Clinical Genetics remover
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1
First successful double-factor PGD for Lynch syndrome: monogenic analysis and comprehensive aneuploidy screening
First successful double-factor PGD for Lynch syndrome: monogenic analysis and comprehensive aneuploidy screening
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First successful double-factor PGD for Lynch syndrome: monogenic analysis and comprehensive aneuploidy screening

Daina, G ; Ramos, L ; Obradors, A ; Rius, M ; Martinez-Pasarell, O ; Polo, A ; del Rey, J ; Obradors, J ; Benet, J ; Navarro, J

Clinical genetics, 2013-07, Vol.84 (1), p.70-73 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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2
Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal
Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal
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Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal

Almeida, MR ; Campos-Xavier, AB ; Medeira, A ; Cordeiro, I ; Sousa, AB ; Lima, M ; Soares, G ; Rocha, M ; Saraiva, J ; Ramos, L ; Sousa, S ; Marcelino, JP ; Correia, A ; Santos, HG

Clinical genetics, 2009-02, Vol.75 (2), p.150-156 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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3
Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome
Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome
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Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome

Engenheiro, E ; Saraiva, J ; Carreira, I ; Ramos, L ; Ropers, HH ; Silva, E ; Tommerup, N ; Tümer, Z

Clinical genetics, 2007-11, Vol.72 (5), p.464-470 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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4
An extra idic(21)(q22.1) in a child with some features of Down's syndrome
An extra idic(21)(q22.1) in a child with some features of Down's syndrome
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An extra idic(21)(q22.1) in a child with some features of Down's syndrome

Gutiérrez-Angulo, M ; Ramos, Al ; Dávalos, N ; Sánchez-Corona, J ; Rivera, H

Clinical genetics, 1999-03, Vol.55 (3), p.203-206 [Periódico revisado por pares]

Copenhagen: Munksgaard International Publishers

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5
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction
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Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction

Parenti, I. ; Gervasini, C. ; Pozojevic, J. ; Wendt, K.S. ; Watrin, E. ; Azzollini, J. ; Braunholz, D. ; Buiting, K. ; Cereda, A. ; Engels, H. ; Garavelli, L. ; Glazar, R. ; Graffmann, B. ; Larizza, L. ; Lüdecke, H.J. ; Mariani, M. ; Masciadri, M. ; Pié, J. ; Ramos, F.J. ; Russo, S. ; Selicorni, A. ; Stefanova, M. ; Strom, T.M. ; Werner, R. ; Wierzba, J. ; Zampino, G. ; Gillessen-Kaesbach, G. ; Wieczorek, D. ; Kaiser, F.J.

Clinical genetics, 2016-05, Vol.89 (5), p.564-573 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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6
Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability
Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability
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Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability

Rangel‐Sosa, M.M. ; Figuera‐Villanueva, L.E. ; González‐Ramos, I.A. ; Pérez‐Páramo, Y.X. ; Martínez‐Jacobo, L.A. ; Arnaud‐López, L. ; Nastasi‐Catanese, J.A. ; Rivas‐Estilla, A.M. ; Galán‐Huerta, K.A. ; Rojas‐Martínez, A. ; Ortiz‐López, R. ; Córdova‐Fletes, C.

Clinical genetics, 2018-06, Vol.93 (6), p.1229-1233 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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7
Molecular characterization of Spanish patients with MECP2 duplication syndrome
Molecular characterization of Spanish patients with MECP2 duplication syndrome
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Molecular characterization of Spanish patients with MECP2 duplication syndrome

Pascual‐Alonso, Ainhoa ; Blasco, Laura ; Vidal, Silvia ; Gean, Esther ; Rubio, Patricia ; O'Callaghan, Mar ; Martínez‐Monseny, Antonio F. ; Castells, Alba Aina ; Xiol, Clara ; Català, Vicenç ; Brandi, Nuria ; Pacheco, Paola ; Ros, Carlota ; Campo, Miguel ; Guillén, Encarna ; Ibañez, Salva ; Sánchez, María J. ; Lapunzina, Pablo ; Nevado, Julián ; Santos, Fernando ; Lloveras, Elisabet ; Ortigoza‐Escobar, Juan D. ; Tejada, María I. ; Maortua, Hiart ; Martínez, Francisco ; Orellana, Carmen ; Roselló, Mónica ; Mesas, María A. ; Obón, María ; Plaja, Alberto ; Fernández‐Ramos, Joaquín A. ; Tizzano, Eduardo ; Marín, Rosario ; Peña‐Segura, José L. ; Alcántara, Soledad ; Armstrong, Judith

Clinical genetics, 2020-04, Vol.97 (4), p.610-620 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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8
MRX93 syndrome (BRWD3 gene): five new patients with novel mutations
MRX93 syndrome (BRWD3 gene): five new patients with novel mutations
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MRX93 syndrome (BRWD3 gene): five new patients with novel mutations

Tenorio, Jair ; Alarcón, Pablo ; Arias, Pedro ; Ramos, Feliciano J. ; Campistol, Jaume ; Climent, Salvador ; García‐Miñaur, Sixto ; Dapía, Irene ; Hernández, Alicia ; Nevado, Julián ; Solís, Mario ; Ruiz‐Pérez, Víctor L. ; Lapunzina, Pablo

Clinical genetics, 2019-06, Vol.95 (6), p.726-731 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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9
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene
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Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene

Ramos-Arroyo, MA ; Hualde, J ; Ayechu, A ; De Meirleir, L ; Seneca, S ; Nadal, N ; Briones, P

Clinical genetics, 2009-06, Vol.75 (6), p.585-587 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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10
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
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Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder

Parra, Alejandro ; Pascual, Patricia ; Cazalla, Mario ; Arias, Pedro ; Gallego-Zazo, Natalia ; San-Martín, Esteban A ; Silván, Cristina ; Santos-Simarro, Fernando ; Nevado, Julián ; Tenorio-Castano, Jair ; Lapunzina, Pablo

Clinical genetics, 2024-02, Vol.105 (2), p.140-149 [Periódico revisado por pares]

Denmark: Blackwell Publishing Ltd

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