Raoul C. Hennekam
AuthID: R-006-FZK
1
TITLE: European lipodystrophy registry: background and structure Full Text
AUTHORS: Julia Von Schnurbein; Claire Adams; Baris Akinci; Giovanni Ceccarini; Maria Rosaria D'Apice; Alessandra Gambineri; Raoul C M Hennekam; Isabelle Jeru; Giovanna Lattanzi; Konstanze Miehle; Gabriele Nagel; Giuseppe Novelli; Ferruccio Santini; Ermelinda S Santos Silva; David B Savage; Paolo Sbraccia; Jannik Schaaf; Ekaterina Sorkina; George Tanteles; Marie Christine Vantyghem; ...More
PUBLISHED: 2020, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 15, ISSUE: 1
AUTHORS: Julia Von Schnurbein; Claire Adams; Baris Akinci; Giovanni Ceccarini; Maria Rosaria D'Apice; Alessandra Gambineri; Raoul C M Hennekam; Isabelle Jeru; Giovanna Lattanzi; Konstanze Miehle; Gabriele Nagel; Giuseppe Novelli; Ferruccio Santini; Ermelinda S Santos Silva; David B Savage; Paolo Sbraccia; Jannik Schaaf; Ekaterina Sorkina; George Tanteles; Marie Christine Vantyghem; ...More
PUBLISHED: 2020, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 15, ISSUE: 1
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations Full Text
AUTHORS: Patricia Fergelot; Martine Van Belzen; Julien Van Gils; Alexandra Afenjar; Christine M Armour; Benoit Arveiler; Lex Beets; Lydie Burglen; Tiffany Busa; Marie Collet; Julie Deforges; Bert B A de Vries; Elena D Dominguez Garrido; Nathalie Dorison; Juliette Dupont; Christine Francannet; Sixto Garcia Minaur; Elisabeth G Gabau Vila; Samuel Gebre Medhin; Blanca G Gener Querol; ...More
PUBLISHED: 2016, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 170, ISSUE: 12
AUTHORS: Patricia Fergelot; Martine Van Belzen; Julien Van Gils; Alexandra Afenjar; Christine M Armour; Benoit Arveiler; Lex Beets; Lydie Burglen; Tiffany Busa; Marie Collet; Julie Deforges; Bert B A de Vries; Elena D Dominguez Garrido; Nathalie Dorison; Juliette Dupont; Christine Francannet; Sixto Garcia Minaur; Elisabeth G Gabau Vila; Samuel Gebre Medhin; Blanca G Gener Querol; ...More
PUBLISHED: 2016, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 170, ISSUE: 12
INDEXED IN: WOS
WOS3
TITLE: Intellectual Disability, Coarse Face, Relative Macrocephaly, and Cerebellar Hypotrophy in Two Sisters Full Text
AUTHORS: Sergio B Sousa; Fabiana Ramos; Paula Garcia; Rui P Pais; Catarina Paiva; Philip L Beales; Gudrun E Moore; Jorge M Saraiva; Raoul C M Hennekam;
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 164, ISSUE: 1
AUTHORS: Sergio B Sousa; Fabiana Ramos; Paula Garcia; Rui P Pais; Catarina Paiva; Philip L Beales; Gudrun E Moore; Jorge M Saraiva; Raoul C M Hennekam;
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 164, ISSUE: 1
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TITLE: Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome Full Text
AUTHORS: Marielle Alders; Lihadh Al Gazali; Isabelle Cordeiro; Bruno Dallapiccola; Livia Garavelli; Beyhan Tuysuz; Faranak Salehi; Martin A Haagmans; Olaf R Mook; Charles B Majoie; Marcel M Mannens; Raoul C Hennekam;
PUBLISHED: 2014, SOURCE: HUMAN GENETICS, VOLUME: 133, ISSUE: 9
AUTHORS: Marielle Alders; Lihadh Al Gazali; Isabelle Cordeiro; Bruno Dallapiccola; Livia Garavelli; Beyhan Tuysuz; Faranak Salehi; Martin A Haagmans; Olaf R Mook; Charles B Majoie; Marcel M Mannens; Raoul C Hennekam;
PUBLISHED: 2014, SOURCE: HUMAN GENETICS, VOLUME: 133, ISSUE: 9
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TITLE: Intellectual Disability, Unusual Facial Morphology and Hand Anomalies in Sibs Full Text
AUTHORS: Sergio B Sousa; Margarida Venancio; Estelle Chanudet; Rodger Palmer; Lina Ramos; Philip L Beales; Gudrun E Moore; Jorge M Saraiva; Raoul C Hennekam;
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 161, ISSUE: 10
AUTHORS: Sergio B Sousa; Margarida Venancio; Estelle Chanudet; Rodger Palmer; Lina Ramos; Philip L Beales; Gudrun E Moore; Jorge M Saraiva; Raoul C Hennekam;
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 161, ISSUE: 10
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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
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TITLE: Further clinical and molecular delineation of the 15q24 microdeletion syndrome
AUTHORS: Heather C Mefford; Jill A Rosenfeld; Natasha Shur; Anne M Slavotinek; Victoria A Cox; Raoul C Hennekam; Helen V Firth; Lionel Willatt; Patricia Wheeler; Eric M Morrow; Joseph Cook; Rachel Sullivan; Albert Oh; Marie T McDonald; Jonathan Zonana; Kory Keller; Mark C Hannibal; Susie Ball; Jennifer Kussmann; Jerome Gorski; ...More
PUBLISHED: 2012, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 49, ISSUE: 2
AUTHORS: Heather C Mefford; Jill A Rosenfeld; Natasha Shur; Anne M Slavotinek; Victoria A Cox; Raoul C Hennekam; Helen V Firth; Lionel Willatt; Patricia Wheeler; Eric M Morrow; Joseph Cook; Rachel Sullivan; Albert Oh; Marie T McDonald; Jonathan Zonana; Kory Keller; Mark C Hannibal; Susie Ball; Jennifer Kussmann; Jerome Gorski; ...More
PUBLISHED: 2012, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 49, ISSUE: 2
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TITLE: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice Full Text
AUTHORS: Joe Rainger; Ellen van Beusekom; Jacqueline K Ramsay; Lisa McKie; Lihadh Al Gazali; Rosanna Pallotta; Anita Saponari; Peter Branney; Malcolm Fisher; Harris Morrison; Louise Bicknell; Philippe Gautier; Paul Perry; Kishan Sokhi; David Sexton; Tanya M Bardakjian; Adele S Schneider; Nursel Elcioglu; Ferda Ozkinay; Rainer Koenig; ...More
PUBLISHED: 2011, SOURCE: PLOS GENETICS, VOLUME: 7, ISSUE: 7
AUTHORS: Joe Rainger; Ellen van Beusekom; Jacqueline K Ramsay; Lisa McKie; Lihadh Al Gazali; Rosanna Pallotta; Anita Saponari; Peter Branney; Malcolm Fisher; Harris Morrison; Louise Bicknell; Philippe Gautier; Paul Perry; Kishan Sokhi; David Sexton; Tanya M Bardakjian; Adele S Schneider; Nursel Elcioglu; Ferda Ozkinay; Rainer Koenig; ...More
PUBLISHED: 2011, SOURCE: PLOS GENETICS, VOLUME: 7, ISSUE: 7
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TITLE: Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
AUTHORS: Slimane Allali; Carine Le Goff; Isabelle Pressac Diebold; Gwendoline Pfennig; Clementine Mahaut; Nathalie Dagoneau; Yasemin Alanay; Angela F Brady; Yanick J Crow; Koen Devriendt; Valerie Drouin Garraud; Elisabeth Flori; David Genevieve; Raoul C Hennekam; Jane Hurst; Deborah Krakow; Martine Le Merrer; Klaske D Lichtenbelt; Sally A Lynch; Stanislas Lyonnet; ...More
PUBLISHED: 2011, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 48, ISSUE: 6
AUTHORS: Slimane Allali; Carine Le Goff; Isabelle Pressac Diebold; Gwendoline Pfennig; Clementine Mahaut; Nathalie Dagoneau; Yasemin Alanay; Angela F Brady; Yanick J Crow; Koen Devriendt; Valerie Drouin Garraud; Elisabeth Flori; David Genevieve; Raoul C Hennekam; Jane Hurst; Deborah Krakow; Martine Le Merrer; Klaske D Lichtenbelt; Sally A Lynch; Stanislas Lyonnet; ...More
PUBLISHED: 2011, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 48, ISSUE: 6
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TITLE: Mutations in the Human Laminin beta 2 (LAMB2) Gene and the Associated Phenotypic Spectrum Full Text
AUTHORS: Verena Matejas; Bernward Hinkes; Faisal Alkandari; Lihadh Al Gazali; Ellen Annexstad; Mehmet B Aytac; Margaret Barrow; Kveta Blahova; Detlef Bockenhauer; Hae Il Cheong; Iwona Maruniak Chudek; Pierre Cochat; Joerg Doetsch; Priya Gajjar; Raoul C Hennekam; Francoise Janssen; Mikhail Kagan; Ariana Kariminejad; Markus J Kemper; Jens Koenig; ...More
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 9
AUTHORS: Verena Matejas; Bernward Hinkes; Faisal Alkandari; Lihadh Al Gazali; Ellen Annexstad; Mehmet B Aytac; Margaret Barrow; Kveta Blahova; Detlef Bockenhauer; Hae Il Cheong; Iwona Maruniak Chudek; Pierre Cochat; Joerg Doetsch; Priya Gajjar; Raoul C Hennekam; Francoise Janssen; Mikhail Kagan; Ariana Kariminejad; Markus J Kemper; Jens Koenig; ...More
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 9
