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TÍTULO: ERN-ITHACA: European Reference Network on congenital malformations and rare neurodevelopmental disabilities  Full Text
AUTORES: Le Dref, Marianne; Avela, Kistiina; Bartuli, Andrea; Bedeschi, Maria Francesca; Dan, Dorica; Demirdas, S.; Houge, Sofia Douzgou; Dufke, Andreas; Faivre, Laurence; Genevieve, David; Guerrini, Renzo; Hadzsiev, Kinga; Hennekam, Raoul; Hugon, Anne; Huning, Irina; Jouannic, Jean Marie; Kaiser, Frank J.; Kleefstra, Tjitske; Lacombe, Didier; Macek, Milan; Matuleviciene, Ausra; Mazzanti, Laura; Menke, Leonie; Meuwissen, Marije; Mosiello, Giovanni; Nordgren, Ann; Odent, Sylvie; Petit, Florence; Puiu, Maria; Ramos, Lina; Renieri, Alessandra; Rossi, Massimiliano; Salviati, Leonardo; Sigaudy, Sabine; Stumpel, Connie; Szeto, Nicholas; Tanteles, Georgios; Tartaglia, Marco; Tumer, Zeynep; Tumiene, Birute; van Eeghen, Agnies; Van Esch, Hilde; Van Ierland, Yvette; Vilain, Catheline; Vissers, Lisenka; Vyshka, Klea; Wieczorek, Dagmar; Zampino, Giuseppe; Verloes, Alain; ...Mais
PUBLICAÇÃO: 2023, FONTE: 55th European-Society-of-Human-Genetics (ESHG) Conference in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 31
INDEXADO EM: WOS
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TÍTULO: Rare SUZ12 variants commonly cause an overgrowth phenotype  Full Text
AUTORES: Sharri S Cyrus; Ana S A Cohen; Ruky Agbahovbe; Kristiina Avela; Kit S Yeung; Brian H Y Chung; Ho Ming Luk; Nataliya Tkachenko; Sanaa Choufani; Rosanna Weksberg; Elena Lopez Rangel; Kathleen Brown; Margarita S Saenz; Shayna Svihovec; Shawn E McCandless; Lynne M Bird; Aixa G Garcia; Michael J Gambello; Kirsty McWalter; Rhonda E Schnur; Jianghong H An; Steven J M Jones; Sanjiv K Bhalla; Hailey Pinz; Stephen R Braddock; William T Gibson; ...Mais
PUBLICAÇÃO: 2019, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
INDEXADO EM: Scopus WOS
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TÍTULO: Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome. Truncating Mutations in the Last Exon of NOTCH3   Full Text
AUTORES: Karen W Gripp; Katherine M Robbins; Nara L Sobreira; Dane D Witmer; Lynne M Bird; Kristiina Avela; Outi Makitie; Daniela Alves; Jacob S Hogue; Elaine H Zackai; Kimberly F Doheny; Deborah L Stabley; Katia Sol Church;
PUBLICAÇÃO: 2015, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 167A, NÚMERO: 2
INDEXADO EM: Scopus WOS CrossRef