Hakon Hakonarson
AuthID: R-00G-65J
1
TITLE: Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
AUTHORS: 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; ...More
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 62, ISSUE: 12
AUTHORS: 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; ...More
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 62, ISSUE: 12
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
AUTHORS: 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; ...More
PUBLISHED: 2014, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 23, ISSUE: 11
AUTHORS: 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; ...More
PUBLISHED: 2014, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 23, ISSUE: 11
3
TITLE: Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A Full Text
AUTHORS: 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; ...More
PUBLISHED: 2013, SOURCE: BRAIN, VOLUME: 136, ISSUE: 10
AUTHORS: 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; ...More
PUBLISHED: 2013, SOURCE: BRAIN, VOLUME: 136, ISSUE: 10
