Hakon Hakonarson


AuthID: R-00G-65J

Publicações a aguardar confirmação

1
TÍTULO: Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
AUTORES: Elizabeth J Bhoj; Damien Haye; Annick Toutain; Dominique Bonneau; Irene Kibaek Nielsen; Ida Bay Lund; Pauline Bogaard; Stine Leenskjold; Kadri Karaer; Katherine T Wild; Katheryn L Grand; Mirena C Astiazaran; Luis A Gonzalez Nieto; Ana Carvalho; Daphne Lehalle; Shivarajan M Amudhavalli; Elena Repnikova; Carol Saunders; Isabelle Thiffault; Irfan Saadi; Dong Li; Hakon Hakonarson; Yoann Vial; Elaine Zackai; Patrick Callier; Severine Drunat; Alain Verloes; ...Mais
PUBLICAÇÃO: 2019, FONTE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 62, NÚMERO: 12
INDEXADO EM: Scopus WOS
2
TÍTULO: Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
AUTORES: Kaiser, FJ; Ansari, M; Braunholz, D; Gil Rodriguez, MC; Decroos, C; Wilde, JJ; Fincher, CT; Kaur, M; Bando, M; Amor, DJ; Atwal, PS; Bahlo, M; Bowman, CM; Bradley, JJ; Brunner, HG; Clark, D; Campo, MD; Di Donato, N; Diakumis, P; Dubbs, H; Dyment, DA; Eckhold, J; Ernst, S; Ferreira, JC; Francey, LJ; Gehlken, U; Guillen Navarro, E; Gyftodimou, Y; Hall, BD; Hennekam, R; Hudgins, L; Hullings, M; Hunter, JM; Yntema, H; Innes, AM; Kline, AD; Krumina, Z; Lee, H; Leppig, K; Lynch, SA; Mallozzi, MB; Mannini, L; Mckee, S; Mehta, SG; Micule, I; Consortium, CC; Mohammed, S; Moran, E; Mortier, GR; Moser, JAS; Noon, SE; Nozaki, N; Nunes, L; Pappas, JG; Penney, LS; Perez Aytes, A; Petersen, MB; Puisac, B; Revencu, N; Roeder, E; Saitta, S; Scheuerle, AE; Schindeler, KL; Siu, VM; Stark, Z; Strom, SP; Thiese, H; Vater, I; Willems, P; Williamson, K; Wilson, LC; Hakonarson, H; Quintero Rivera, F; Wierzba, J; Musio, A; Gillessen Kaesbach, G; Ramos, FJ; Jackson, LG; Shirahige, K; Pie, J; Christianson, DW; Krantz, ID; Fitzpatrick, DR; Deardorff, MA; ...Mais
PUBLICAÇÃO: 2014, FONTE: HUMAN MOLECULAR GENETICS, VOLUME: 23, NÚMERO: 11
INDEXADO EM: Scopus WOS CrossRef
3
TÍTULO: Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A  Full Text
AUTORES: Dalia Kasperaviciute; Claudia B Catarino; Mar Matarin; Costin Leu; Jan Novy; Anna Tostevin; Barbara Leal; Ellen V S Hessel; Kerstin Hallmann; Michael S Hildebrand; Hans Henrik M Dahl; Mina Ryten; Daniah Trabzuni; Adaikalavan Ramasamy; Saud Alhusaini; Colin P Doherty; Thomas Dorn; Joerg Hansen; Guenter Kraemer; Bernhard J Steinhoff; Dominik Zumsteg; Susan Duncan; Reetta K Kaelviaeinen; Kai J Eriksson; Anne Mari Kantanen; Massimo Pandolfo; Ursula Gruber Sedlmayr; Kurt Schlachter; Eva M Reinthaler; Elisabeth Stogmann; Fritz Zimprich; Emilie Theatre; Colin Smith; Terence J O'Brien; Meng M Tan; Slave Petrovski; Angela Robbiano; Roberta Paravidino; Federico Zara; Pasquale Striano; Michael R Sperling; Russell J Buono; Hakon Hakonarson; Joao Chaves; Paulo P Costa ; Berta M Silva ; Antonio M da Silva ; Pierre N E de Graan; Bobby P C Koeleman; Albert Becker; Susanne Schoch; Marec von Lehe; Philipp S Reif; Felix Rosenow; Felicitas Becker; Yvonne Weber; Holger Lerche; Karl Roessler; Michael Buchfelder; Hajo M Hamer; Katja Kobow; Roland Coras; Ingmar Blumcke; Ingrid E Scheffer; Samuel F Berkovic; Michael E Weale; Norman Delanty; Chantal Depondt; Gianpiero L Cavalleri; Wolfram S Kunz; Sanjay M Sisodiya; ...Mais
PUBLICAÇÃO: 2013, FONTE: BRAIN, VOLUME: 136, NÚMERO: 10
INDEXADO EM: Scopus WOS CrossRef

Um espaço para investigadores e suas Instituições

Links Úteis

Ajuda

© 2024 CRACS & Inesc TEC - All Rights Reserved Política de Privacidade | Terms of Service