Arjan P. M. de Brouwer
AuthID: R-00F-E94
1
TITLE: MISSENSE MED12 VARIANTS IN 22 MALES WITH INTELLECTUAL DISABILITY: FROM NON-SPECIFIC SYMPTOMS TO COMPLETE SYNDROMES Full Text
AUTHORS: Maia, Nuno; Ibarluzea, Nekane; Misra Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosario; Marcelis, Carlo L. M.; Keski Filppula, Riikka; Guitart, Miriam; Vila, Elisbeth Gabau; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa Aranzasti, Amaia; Cueto Gonzalez, Anna Ma; Chhouk, Brian H.; Yeh, Rebecca C.; ...More
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Maia, Nuno; Ibarluzea, Nekane; Misra Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosario; Marcelis, Carlo L. M.; Keski Filppula, Riikka; Guitart, Miriam; Vila, Elisbeth Gabau; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa Aranzasti, Amaia; Cueto Gonzalez, Anna Ma; Chhouk, Brian H.; Yeh, Rebecca C.; ...More
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: 
WOS
WOS2
TITLE: Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB
AUTHORS: Nuno Maia; Ana Rita Soares; Ana Maria Fortuna; Isabel Marques; Ana Goncalves; Rosario Santos; Manuel Melo Pires ; Arjan P M de Brouwer; Paula Jorge;
PUBLISHED: 2020, SOURCE: CLINICAL CASE REPORTS
AUTHORS: Nuno Maia; Ana Rita Soares; Ana Maria Fortuna; Isabel Marques; Ana Goncalves; Rosario Santos; Manuel Melo Pires ; Arjan P M de Brouwer; Paula Jorge;
PUBLISHED: 2020, SOURCE: CLINICAL CASE REPORTS
INDEXED IN: 
Scopus WOS
Scopus WOS3
TITLE: Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis
AUTHORS: Arjan Pol; Herma H Renkema; Albert Tangerman; Edwin G Winkel; Udo F Engelke; Arjan P M de Brouwer; Kent C Lloyd; Renee S Araiza; Lambert van den Heuvel; Heymut Omran; Heike Olbrich; Marijn Oude Elberink; Christian Gilissen; Richard J Rodenburg; Joern Oliver Sass; Otfried O Schwab; Hendrik Schafer; Hanka Venselaar; Silvia S Sequeira; Huub Op M O den Camp; ...More
PUBLISHED: 2018, SOURCE: NATURE GENETICS, VOLUME: 50, ISSUE: 1
AUTHORS: Arjan Pol; Herma H Renkema; Albert Tangerman; Edwin G Winkel; Udo F Engelke; Arjan P M de Brouwer; Kent C Lloyd; Renee S Araiza; Lambert van den Heuvel; Heymut Omran; Heike Olbrich; Marijn Oude Elberink; Christian Gilissen; Richard J Rodenburg; Joern Oliver Sass; Otfried O Schwab; Hendrik Schafer; Hanka Venselaar; Silvia S Sequeira; Huub Op M O den Camp; ...More
PUBLISHED: 2018, SOURCE: NATURE GENETICS, VOLUME: 50, ISSUE: 1
INDEXED IN: WOS
WOS4
TITLE: Deletion of the 5 ' exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
AUTHORS: Maria Joao N Nabais Sa; Nathalie Fieremans; Arjan P M de Brouwer; Rita Sousa; Fernando T E 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; Filipa Carvalho ; Guy Froyen; Oliveira, JP ;
PUBLISHED: 2013, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, ISSUE: 11
AUTHORS: Maria Joao N Nabais Sa; Nathalie Fieremans; Arjan P M de Brouwer; Rita Sousa; Fernando T E 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; Filipa Carvalho ; Guy Froyen; Oliveira, JP ;
PUBLISHED: 2013, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, ISSUE: 11
5
TITLE: Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism Full Text
AUTHORS: David A Koolen; Juliette Dupont; Nicole de Leeuw; Lisenka E L M Vissers; Simone P A van den Heuvel; Alyson Bradbury; James Steer; Arjan P M de Brouwer; Leo P ten Kate; Willy M Nillesen; Bert B A de Vries; Michael J Parker;
PUBLISHED: 2012, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 20, ISSUE: 7
AUTHORS: David A Koolen; Juliette Dupont; Nicole de Leeuw; Lisenka E L M Vissers; Simone P A van den Heuvel; Alyson Bradbury; James Steer; Arjan P M de Brouwer; Leo P ten Kate; Willy M Nillesen; Bert B A de Vries; Michael J Parker;
PUBLISHED: 2012, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 20, ISSUE: 7
