Researcher
Maria João Nabais Sá
Department of Human Genetics, Radboudumc
Statistics
15 papers found
All papers authored by Maria João Nabais Sá
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Alexander J. M. Dingemans 
,
Diante E. Stremmelaar,
Lisenka E. L. M. Vissers,
Angela Remortele,
Angela van Remortele,
Sandra Jansen ,
Kim Truijen,
Sam van de Ven,
Noraly Jonis ,
Michel Verbruggen,
Maria João Nabais Sá ,
Jeroen Ewals,
David A. Koolen,
Bert B. A. de Vries ,
Han G. Brunner
and 2 other authors
Download from onlinelibrary.wiley.com
,
Diante E. Stremmelaar,
Lisenka E. L. M. Vissers,
Angela Remortele,
Angela van Remortele,
Sandra Jansen ,
Kim Truijen,
Sam van de Ven,
Noraly Jonis ,
Michel Verbruggen,
Maria João Nabais Sá ,
Jeroen Ewals,
David A. Koolen,
Bert B. A. de Vries ,
Han G. Brunner
and 2 other authors
Download from onlinelibrary.wiley.com
2020
Alexandra N. Olson,
Grace Yoon,
Graeme A. M. Nimmo,
Michèl A. Willemsen,
Maria João Nabais Sá ,
Alexandra Schneider,
Christopher M. Gomez,
Rolph Pfundt,
Francisca Millan,
Arjan P. M. de Brouwer,
Bert B. A. de Vries ,
Jonathan D. Dinman
,
Alexandra Schneider,
Christopher M. Gomez,
Rolph Pfundt,
Francisca Millan,
Arjan P. M. de Brouwer,
Bert B. A. de Vries ,
Jonathan D. Dinman
De Novo Variants in EEF2 Cause a Neurodevelopmental Disorder with Benign External Hydrocephalus
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Arjan P. M. de Brouwer,
Sarah L. Sawyer,
Daniela del Gaudio,
Michael J. Parker,
Marie-José H. van den Boogaard,
Koen van Gassen,
Margot I. Van Allen,
Klaas Wierenga,
Gabriela Purcarin,
Laurens van de Wiel ,
Hanka Venselaar,
Rolph Pfundt,
Lisenka E. L. M. Vissers,
Jean-Philippe P. Theurillat,
Bert B. A. de Vries
and 8 other authors
,
Hanka Venselaar,
Rolph Pfundt,
Lisenka E. L. M. Vissers,
Jean-Philippe P. Theurillat,
Bert B. A. de Vries
and 8 other authors
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders
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2019
Fátima Lopes,
Fátima Torres,
Gabriela Soares,
João Silva,
Miguel Rocha,
Joaquim Sá,
Guiomar Oliveira,
Maria João Sá,
Teresa Temudo,
Susana Sousa,
Felisbela Rocha,
Adriana Sampaio,
Marjan M. Weiss,
Bauke Ylstra ,
Paula Rendeiro
and 28 other authors
,
Paula Rendeiro
and 28 other authors
Genomic imbalances defining novel intellectual disability associated loci
Download from doi.org
Michael J. Parker,
Miranda Splitt,
Philip J. Jensik,
Elizabeth E. Palmer ,
Stacey R. McGee,
Rani K. Sachdev,
Nayana Lahiri,
Abbey A. Scott,
Evan P. McNeil,
Hester Y. Kroes,
Naama Orenstein,
Randi J. Hagerman,
Maria João Nabais Sá ,
Rachel E. Harrison,
Tara Montgomery
and 23 other authors
,
Stacey R. McGee,
Rani K. Sachdev,
Nayana Lahiri,
Abbey A. Scott,
Evan P. McNeil,
Hester Y. Kroes,
Naama Orenstein,
Randi J. Hagerman,
Maria João Nabais Sá ,
Rachel E. Harrison,
Tara Montgomery
and 23 other authors
De novo and biallelic DEAF1 variants cause a phenotypic spectrum
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2017
Nuno Maia,
Maria J. Nabais Sá,
Maria J. Nabais Sa ,
Nataliya Tkachenko,
Gabriela Soares,
Isabel Marques,
Bárbara Rodrigues,
Ana M. Fortuna,
Rosário Santos,
Arjan P. M. de Brouwer,
Paula Jorge
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,
Nataliya Tkachenko,
Gabriela Soares,
Isabel Marques,
Bárbara Rodrigues,
Ana M. Fortuna,
Rosário Santos,
Arjan P. M. de Brouwer,
Paula Jorge
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2015
Isabel Marques,
Maria João Sá ,
Maria Jo~,
Gabriela Soares,
M. O. C. Mota,
Maria Do,
Carla Pinheiro,
Maria do Céu Mota,
Lisa Aguiar,
Marta Amado,
Christina Soares,
C. Eu Mota,
Angelina Calado,
Patr Icia Dias,
Ana Berta Sousa
and 11 other authors
Download from dx.doi.org
,
Maria Jo~,
Gabriela Soares,
M. O. C. Mota,
Maria Do,
Carla Pinheiro,
Maria do Céu Mota,
Lisa Aguiar,
Marta Amado,
Christina Soares,
C. Eu Mota,
Angelina Calado,
Patr Icia Dias,
Ana Berta Sousa
and 11 other authors
Download from dx.doi.org
Maria João Nabais Sá ,
Rocha Jc,
Júlio C. Rocha,
Manuela F. Almeida,
Almeida Mf,
Carla Carmona,
Esmeralda Martins,
Vasco Miranda,
Miguel Coutinho,
Rita Ferreira,
Sara Pacheco,
Francisco Laranjeira,
Isaura Ribeiro,
Fortuna Am,
Ana Maria Fortuna
and 1 other authors
,
Rocha Jc,
Júlio C. Rocha,
Manuela F. Almeida,
Almeida Mf,
Carla Carmona,
Esmeralda Martins,
Vasco Miranda,
Miguel Coutinho,
Rita Ferreira,
Sara Pacheco,
Francisco Laranjeira,
Isaura Ribeiro,
Fortuna Am,
Ana Maria Fortuna
and 1 other authors
Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels
Download from hdl.handle.net
M. J. Nabais Sa ,
S. Sampaio,
A. Oliveira,
S. Alves,
C. P. Moura,
S. E. Silva,
R. Castro,
J. A. Araujo,
M. Rodrigues,
F. Neves,
J. Seabra,
C. Soares,
M. A. Gaspar,
I. Tavares,
L. Freitas
and 17 other authors
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,
S. Sampaio,
A. Oliveira,
S. Alves,
C. P. Moura,
S. E. Silva,
R. Castro,
J. A. Araujo,
M. Rodrigues,
F. Neves,
J. Seabra,
C. Soares,
M. A. Gaspar,
I. Tavares,
L. Freitas
and 17 other authors
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Nabais Sá Mj,
M. J. Nabais Sa ,
A. G. da Costa,
C. P. de Moura,
H. Storey ,
F. Flinter,
M. Nagel,
S. Sampaio,
R. Castro,
Araújo Ja,
J. A. Araujo,
Gaspar Ma,
M. A. Gaspar,
C. Soares,
A. Oliveira
and 17 other authors
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,
A. G. da Costa,
C. P. de Moura,
H. Storey ,
F. Flinter,
M. Nagel,
S. Sampaio,
R. Castro,
Araújo Ja,
J. A. Araujo,
Gaspar Ma,
M. A. Gaspar,
C. Soares,
A. Oliveira
and 17 other authors
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2013
Maria Joao Nabais Sa ,
Nathalie Fieremans,
Arjan P. M. de Brouwer,
Rita Sousa,
Fernando Teixeira e. Costa,
Maria Jose Brito,
Fernanda Carvalho,
Marcia Rodrigues,
Francisco Teixeira de Sousa,
Joana Felgueiras,
Fernando Neves,
Adelino Carvalho,
Umbelina Ramos,
Jose Ramon Vizcaino,
Susana Alves
and 3 other authors
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,
Nathalie Fieremans,
Arjan P. M. de Brouwer,
Rita Sousa,
Fernando Teixeira e. Costa,
Maria Jose Brito,
Fernanda Carvalho,
Marcia Rodrigues,
Francisco Teixeira de Sousa,
Joana Felgueiras,
Fernando Neves,
Adelino Carvalho,
Umbelina Ramos,
Jose Ramon Vizcaino,
Susana Alves
and 3 other authors
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