Kristiina Avela
AuthID: R-00G-CEN
1
TITLE: ERN-ITHACA: European Reference Network on congenital malformations and rare neurodevelopmental disabilities Full Text
AUTHORS: 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; ...More
PUBLISHED: 2023, SOURCE: 55th European-Society-of-Human-Genetics (ESHG) Conference in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 31
AUTHORS: 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; ...More
PUBLISHED: 2023, SOURCE: 55th European-Society-of-Human-Genetics (ESHG) Conference in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 31
INDEXED IN: 
WOS
WOS2
TITLE: Rare SUZ12 variants commonly cause an overgrowth phenotype Full Text
AUTHORS: 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; ...More
PUBLISHED: 2019, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
AUTHORS: 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; ...More
PUBLISHED: 2019, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
INDEXED IN: 
Scopus WOS
Scopus WOS3
TITLE: Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome. Truncating Mutations in the Last Exon of NOTCH3 Full Text
AUTHORS: 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;
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 167A, ISSUE: 2
AUTHORS: 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;
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 167A, ISSUE: 2
