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TÍTULO: European lipodystrophy registry: background and structure  Full Text
AUTORES: 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; Camille Vatier; Corinne Vigouroux; Elena Vorona; David Araujo Vilar; Martin Wabitsch; ...Mais
PUBLICAÇÃO: 2020, FONTE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 15, NÚMERO: 1
INDEXADO EM: Scopus WOS
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TÍTULO: Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations  Full Text
AUTORES: 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; David Genevieve; Marion Gerard; Cristina Giovanna Gervasini; Alice Goldenberg; Dragana Josifova; Katherine Lachlan; Saskia Maas; Bruno Maranda; Jukka S Moilanen; Ann Nordgren; Philippe Parent; Julia Rankin; Willie Reardon; Marlene Rio; Joelle Roume; Adam Shaw; Robert Smigiel; Amaia Sojo; Benjamin Solomon; Agnieszka Stembalska; Constance Stumpel; Francisco Suarez; Paulien Terhal; Simon Thomas; Renaud Touraine; Alain Verloes; Catherine Vincent Delorme; Josephine Wincent; Dorien J M Peters; Oliver Bartsch; Lidia Larizza; Didier Lacombe; Raoul C Hennekam; ...Mais
PUBLICAÇÃO: 2016, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 170, NÚMERO: 12
INDEXADO EM: WOS
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TÍTULO: Intellectual Disability, Coarse Face, Relative Macrocephaly, and Cerebellar Hypotrophy in Two Sisters  Full Text
AUTORES: 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;
PUBLICAÇÃO: 2014, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 164, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef: 4
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TÍTULO: Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome  Full Text
AUTORES: 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;
PUBLICAÇÃO: 2014, FONTE: HUMAN GENETICS, VOLUME: 133, NÚMERO: 9
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Intellectual Disability, Unusual Facial Morphology and Hand Anomalies in Sibs  Full Text
AUTORES: Sergio B Sousa; Margarida Venancio; Estelle Chanudet; Rodger Palmer; Lina Ramos; Philip L Beales; Gudrun E Moore; Jorge M Saraiva; Raoul C Hennekam;
PUBLICAÇÃO: 2013, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 161, NÚMERO: 10
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome  Full Text
AUTORES: 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; Denise Horn; Danny Huylebroeck; Jakub Klapecki; Malgorzata Krajewska Walasek; Alma Kuechler; Matthew A Lines; Saskia Maas; Kay D MacDermot; Shane McKee; Alex Magee; Stella A de Man; Yves Moreau; Fanny Morice Picard; Ewa Obersztyn; Jacek Pilch; Elizabeth Rosser; Nora Shannon; Irene Stolte Dijkstra; Patrick Van Dijck; Catheline Vilain; Annick Vogels; Emma Wakeling; Dagmar Wieczorek; Louise Wilson; Orsetta Zuffardi; Antoine H C van Kampen; Koenraad Devriendt; Raoul Hennekam; Joris Robert Vermeesch; ...Mais
PUBLICAÇÃO: 2012, FONTE: NATURE GENETICS, VOLUME: 44, NÚMERO: 4
INDEXADO EM: Scopus WOS CrossRef: 100
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TÍTULO: Further clinical and molecular delineation of the 15q24 microdeletion syndrome
AUTORES: 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; Susan Zelewski; Valerie Banks; Wendy Smith; Rosemarie Smith; Lindsay Paull; Kenneth N Rosenbaum; David J Amor; Joao Silva; Allen Lamb; Evan E Eichler; ...Mais
PUBLICAÇÃO: 2012, FONTE: JOURNAL OF MEDICAL GENETICS, VOLUME: 49, NÚMERO: 2
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice  Full Text
AUTORES: 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; Andre Megarbane; Nur N Semerci; Ayesha Khan; Saemah Zafar; Raoul Hennekam; Sergio B Sousa; Lina Ramos; Livia Garavelli; Andrea Superti Furga; Anita Wischmeijer; Ian J Jackson; Gabriele Gillessen Kaesbach; Han G Brunner; Dagmar Wieczorek; Hans van Bokhoven; David R FitzPatrick; ...Mais
PUBLICAÇÃO: 2011, FONTE: PLOS GENETICS, VOLUME: 7, NÚMERO: 7
INDEXADO EM: Scopus WOS CrossRef: 49
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TÍTULO: Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
AUTORES: 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; Kay MacDermot; Sahar Mansour; Andre Megarbane; Heloisa G Santos; Miranda Splitt; Andrea Superti Furga; Sheila Unger; Denise Williams; Arnold Munnich; Valerie Cormier Daire; ...Mais
PUBLICAÇÃO: 2011, FONTE: JOURNAL OF MEDICAL GENETICS, VOLUME: 48, NÚMERO: 6
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Mutations in the Human Laminin beta 2 (LAMB2) Gene and the Associated Phenotypic Spectrum  Full Text
AUTORES: 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; Jillene Kogan; Hester Y Kroes; Eberhard Kuwertz Broeking; Amy F Lewanda; Ana Medeira; Jutta Muscheites; Patrick Niaudet; Michel Pierson; Anand Saggar; Laurie Seaver; Mohnish Suri; Alexey Tsygin; Elke Wuehl; Aleksandra Zurowska; Steffen Uebe; Friedhelm Hildebrandt; Corinne Antignac; Martin Zenker; ...Mais
PUBLICAÇÃO: 2010, FONTE: HUMAN MUTATION, VOLUME: 31, NÚMERO: 9
INDEXADO EM: Scopus WOS CrossRef
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