Joris Vermeesch
AuthID: R-00F-BAV
1
TITLE: Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity Full Text
AUTHORS: Hanyin Y Cheng; Simona Capponi; Emma Wakeling; Elaine Marchi; Quan Li; Mengge G Zhao; Chunhua H Weng; Piatek G Stefan; Helena Ahlfors; Robert Kleyner; Alan Rope; Aime Lumaka; Prosper Lukusa; Koenraad Devriendt; Joris Vermeesch; Jennifer E Posey; Elizabeth E Palmer; Lucinda Murray; Eyby Leon; Jullianne Diaz; ...More
PUBLISHED: 2020, SOURCE: HUMAN MUTATION, VOLUME: 41, ISSUE: 2
AUTHORS: Hanyin Y Cheng; Simona Capponi; Emma Wakeling; Elaine Marchi; Quan Li; Mengge G Zhao; Chunhua H Weng; Piatek G Stefan; Helena Ahlfors; Robert Kleyner; Alan Rope; Aime Lumaka; Prosper Lukusa; Koenraad Devriendt; Joris Vermeesch; Jennifer E Posey; Elizabeth E Palmer; Lucinda Murray; Eyby Leon; Jullianne Diaz; ...More
PUBLISHED: 2020, SOURCE: HUMAN MUTATION, VOLUME: 41, ISSUE: 2
INDEXED IN: 
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TITLE: Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy
AUTHORS: Joyce Harper; Joep Geraedts; Pascal Borry; Martina C Cornel; Wybo J Dondorp; Luca Gianaroli; Gary Harton; Tanya Milachich; Helena Kaariainen; Inge Liebaers; Michael Morris; Jorge Sequeiros; Karen Sermon; Francoise Shenfield; Heather Skirton; Sirpa Soini; Claudia Spits; Anna Veiga; Joris Robert Vermeesch; Stephane Viville; ...More
PUBLISHED: 2014, SOURCE: HUMAN REPRODUCTION, VOLUME: 29, ISSUE: 8
AUTHORS: Joyce Harper; Joep Geraedts; Pascal Borry; Martina C Cornel; Wybo J Dondorp; Luca Gianaroli; Gary Harton; Tanya Milachich; Helena Kaariainen; Inge Liebaers; Michael Morris; Jorge Sequeiros; Karen Sermon; Francoise Shenfield; Heather Skirton; Sirpa Soini; Claudia Spits; Anna Veiga; Joris Robert Vermeesch; Stephane Viville; ...More
PUBLISHED: 2014, SOURCE: HUMAN REPRODUCTION, VOLUME: 29, ISSUE: 8
3
TITLE: Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome Full Text
AUTHORS: Jeroen K J Van Houdt; Beata Anna Nowakowska; Sergio B Sousa; Barbera D C van Schaik; Eve Seuntjens; Nelson Avonce; Alejandro Sifrim; Omar A Abdul Rahman; Marie Jose H van den Boogaard; Armand Bottani; Marco Castori; Valerie Cormier Daire; Matthew A Deardorff; Isabel Filges; Alan Fryer; Jean Pierre Fryns; Simone Gana; Livia Garavelli; Gabriele Gillessen Kaesbach; Bryan D Hall; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 4
AUTHORS: Jeroen K J Van Houdt; Beata Anna Nowakowska; Sergio B Sousa; Barbera D C van Schaik; Eve Seuntjens; Nelson Avonce; Alejandro Sifrim; Omar A Abdul Rahman; Marie Jose H van den Boogaard; Armand Bottani; Marco Castori; Valerie Cormier Daire; Matthew A Deardorff; Isabel Filges; Alan Fryer; Jean Pierre Fryns; Simone Gana; Livia Garavelli; Gabriele Gillessen Kaesbach; Bryan D Hall; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 4
4
TITLE: Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances
AUTHORS: Joana Barbosa Melo ; Liesbeth Backx; Joris R Vermeesch; Heloisa G Santos; Ana C Sousa; Nadezda Kosyakova; Anja Weise; Ferdinand von Eggeling; Thomas Liehr; Isabel Marques Carreira ;
PUBLISHED: 2011, SOURCE: JOURNAL OF APPLIED GENETICS, VOLUME: 52, ISSUE: 2
AUTHORS: Joana Barbosa Melo ; Liesbeth Backx; Joris R Vermeesch; Heloisa G Santos; Ana C Sousa; Nadezda Kosyakova; Anja Weise; Ferdinand von Eggeling; Thomas Liehr; Isabel Marques Carreira ;
PUBLISHED: 2011, SOURCE: JOURNAL OF APPLIED GENETICS, VOLUME: 52, ISSUE: 2
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TITLE: Molecular Cytogenetic Characterization of Two Cases with de novo Small Mosaic Supernumerary Marker Chromosomes Derived from Chromosome 16: Towards a Genotype/Phenotype Correlation
AUTHORS: Melo, JB ; Matoso, E; Polityko, A; Saraiva, J; Backx, L; Vermeesch, JR; Kosyakova, N; Ewers, E; Liehr, T; Carreira, IM ;
PUBLISHED: 2009, SOURCE: CYTOGENETIC AND GENOME RESEARCH, VOLUME: 125, ISSUE: 2
AUTHORS: Melo, JB ; Matoso, E; Polityko, A; Saraiva, J; Backx, L; Vermeesch, JR; Kosyakova, N; Ewers, E; Liehr, T; Carreira, IM ;
PUBLISHED: 2009, SOURCE: CYTOGENETIC AND GENOME RESEARCH, VOLUME: 125, ISSUE: 2
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TITLE: Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 -> qter) detected in an autistic boy Full Text
AUTHORS: Isabel M Carreira ; Joana B Melo ; Carlos Rodrigues; Liesbeth Backx; Joris Vermeesch; Anja Weise; Nadezda Kosyakova; Guiomar Oliveira ; Eunice Matoso;
PUBLISHED: 2009, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 2, ISSUE: 1
AUTHORS: Isabel M Carreira ; Joana B Melo ; Carlos Rodrigues; Liesbeth Backx; Joris Vermeesch; Anja Weise; Nadezda Kosyakova; Guiomar Oliveira ; Eunice Matoso;
PUBLISHED: 2009, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 2, ISSUE: 1
