Raoul C. Hennekam
AuthID: R-006-FZK
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TITLE: Nicolaides-Baraitser Syndrome: Delineation of the Phenotype Full Text
AUTHORS: Sergio B Sousa; Omar A Abdul Rahman; Armand Bottani; Valerie Cormier Daire; Alan Fryer; Gabriele Gillessen Kaesbach; Denise Horn; Dragana Josifova; Alma Kuechler; Melissa Lees; Kay MacDermot; Alex Magee; Fanny Morice Picard; Elizabeth Rosser; Ajoy Sarkar; Nora Shannon; Irene Stolte Dijkstra; Alain Verloes; Emma Wakeling; Louise Wilson; ...More
PUBLISHED: 2009, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 149A, ISSUE: 8
AUTHORS: Sergio B Sousa; Omar A Abdul Rahman; Armand Bottani; Valerie Cormier Daire; Alan Fryer; Gabriele Gillessen Kaesbach; Denise Horn; Dragana Josifova; Alma Kuechler; Melissa Lees; Kay MacDermot; Alex Magee; Fanny Morice Picard; Elizabeth Rosser; Ajoy Sarkar; Nora Shannon; Irene Stolte Dijkstra; Alain Verloes; Emma Wakeling; Louise Wilson; ...More
PUBLISHED: 2009, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 149A, ISSUE: 8
12
TITLE: Further Delineation of Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy Full Text
AUTHORS: Sergio B Sousa; Isabelle Russell Eggitt; Christine Hall; Bryan D Hall; Raoul C M Hennekam;
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 146A, ISSUE: 24
AUTHORS: Sergio B Sousa; Isabelle Russell Eggitt; Christine Hall; Bryan D Hall; Raoul C M Hennekam;
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 146A, ISSUE: 24
13
TITLE: Ophthalmological aspects of Pierson syndrome Full Text
AUTHORS: Cecilie Bredrup; Verena Matejas; Margaret Barrow; Kveta Blahova; Detlef Bockenhauer; Darren J Fowler; Richard M Gregson; Iwona Maruniak Chudek; Ana Medeira; Erica Laima Mendonca; Mikhail Kagan; Jens Koenig; Hermann Krastel; Hester Y Kroes; Anand Saggar; Taylor Sawyer; Michael Schittkowski; Janusz Swietlinski; Dorothy Thompson; Rene G Vandevoorde; ...More
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF OPHTHALMOLOGY, VOLUME: 146, ISSUE: 4
AUTHORS: Cecilie Bredrup; Verena Matejas; Margaret Barrow; Kveta Blahova; Detlef Bockenhauer; Darren J Fowler; Richard M Gregson; Iwona Maruniak Chudek; Ana Medeira; Erica Laima Mendonca; Mikhail Kagan; Jens Koenig; Hermann Krastel; Hester Y Kroes; Anand Saggar; Taylor Sawyer; Michael Schittkowski; Janusz Swietlinski; Dorothy Thompson; Rene G Vandevoorde; ...More
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF OPHTHALMOLOGY, VOLUME: 146, ISSUE: 4
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TITLE: Long-term follow-up in Stuve-Wiedemann syndrome: A clinical report Full Text
AUTHORS: Isabel Mendes Gaspar; Tiago Saldanha; Pedro Cabral; Manuel M Vilhena; Madalena Tuna; Cristina Costa; Nathalie Dagoneau; Valerie Cormier Daire; Raoul C M Hennekam;
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 146A, ISSUE: 13
AUTHORS: Isabel Mendes Gaspar; Tiago Saldanha; Pedro Cabral; Manuel M Vilhena; Madalena Tuna; Cristina Costa; Nathalie Dagoneau; Valerie Cormier Daire; Raoul C M Hennekam;
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 146A, ISSUE: 13
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TITLE: Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
AUTHORS: Christiane Zweier; Maarit M Peippo; Juliane Hoyer; Sergio Sousa; Armand Bottani; Jill Clayton Smith; William Reardon; Jorge Saraiva; Alexandra Cabral; Ina Goehring; Koen Devriendt; Thomy de Ravel; Emilia K Bijlsma; Raoul C M Hennekam; Alfredo Orrico; Monika Cohen; Alexander Dreweke; Andre Reis; Peter Nuernberg; Anita Rauch;
PUBLISHED: 2007, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 80, ISSUE: 5
AUTHORS: Christiane Zweier; Maarit M Peippo; Juliane Hoyer; Sergio Sousa; Armand Bottani; Jill Clayton Smith; William Reardon; Jorge Saraiva; Alexandra Cabral; Ina Goehring; Koen Devriendt; Thomy de Ravel; Emilia K Bijlsma; Raoul C M Hennekam; Alfredo Orrico; Monika Cohen; Alexander Dreweke; Andre Reis; Peter Nuernberg; Anita Rauch;
PUBLISHED: 2007, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 80, ISSUE: 5
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TITLE: Identification of mutations in CUL7 in 3-M syndrome Full Text
AUTHORS: Huber, C; Dias Santagata, D; Glaser, A; O'Sullivan, J; Brauner, R; Wu, K; Xu, XS; Pearce, K; Wang, R; Uzielli, MLG; Dagoneau, N; Chemaitilly, W; Superti Furga, A; Dos Santos, H; Megarbane, A; Morin, G; Gillessen Kaesbach, G; Hennekam, R; Van der Burgt, I; Black, GCM; ...More
PUBLISHED: 2005, SOURCE: NATURE GENETICS, VOLUME: 37, ISSUE: 10
AUTHORS: Huber, C; Dias Santagata, D; Glaser, A; O'Sullivan, J; Brauner, R; Wu, K; Xu, XS; Pearce, K; Wang, R; Uzielli, MLG; Dagoneau, N; Chemaitilly, W; Superti Furga, A; Dos Santos, H; Megarbane, A; Morin, G; Gillessen Kaesbach, G; Hennekam, R; Van der Burgt, I; Black, GCM; ...More
PUBLISHED: 2005, SOURCE: NATURE GENETICS, VOLUME: 37, ISSUE: 10
