Gyri A Gradek

Affiliations

Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.

Publications (2)

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

European journal of human genetics : EJHG

Avec: Angela Peron , Felice D'Arco , Kimberly A Aldinger , Constance Smith-Hicks , Christiane Zweier , Kimberley Bradbury , Andrea Accogli , Erica F Andersen , Ping Yee Billie Au , Roberta Battini , Daniah Beleford , Lynne M Bird , Arjan Bouman , Ange-Line Bruel , Øyvind Løvold Busk , Philippe M Campeau , Valeria Capra , Colleen Carlston , Jenny Carmichael , Anna Chassevent , Jill Clayton-Smith , Michael J Bamshad , Dawn L Earl , Laurence Faivre , Christophe Philippe , Patrick Ferreira , Luitgard Graul-Neumann , Mary J Green , Darrah Haffner , Parthiv Haldipur , Suhair Hanna , Gunnar Houge , Wendy D Jones , Cornelia Kraus , Birgit Elisabeth Kristiansen , James Lespinasse , Karen J Low , Sally Ann Lynch , Sofia Maia , Rong Mao , Ruta Kalinauskiene , Catherine Melver , Kimberly McDonald , Tara Montgomery , Manuela Morleo , Constance Motter , Amanda S Openshaw , Janice Cox Palumbos , Aditi Shah Parikh , Yezmin Perilla-Young , Cynthia M Powell , Richard Person , Megha Desai , Juliette Piard , Rolph Pfundt , Marcello Scala , Margaux Serey-Gaut , Deborah Shears , Anne Slavotinek , Mohnish Suri , Claire Turner , Tatiana Tvrdik , Karin Weiss , Ingrid M Wentzensen , Marcella Zollino , Tzung-Chien Hsieh , Auteur inconnu , Auteur inconnu , Auteur inconnu , Bert B A de Vries , Francois Guillemot , William B Dobyns , David Viskochil , Cristina Dias

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Human mutation

Avec: Suzanna G M Frints , Friederike Hennig , Roberto Colombo , Sebastien Jacquemont , Paulien Terhal , Holly H Zimmerman , David Hunt , Bryce A Mendelsohn , Ulrike Kordaß , Richard Webster , Margje Sinnema , Omar Abdul-Rahman , Vanessa Suckow , Alberto Fernández-Jaén , Kees van Roozendaal , Servi J C Stevens , Merryn V E Macville , Salwan Al-Nasiry , Koen van Gassen , Norbert Utzig , Suzanne M Koudijs , Lesley McGregor , Saskia M Maas , Diana Baralle , Abhijit Dixit , Peter Wieacker , Marcus Lee , Arthur S Lee , Elizabeth C Engle , Gunnar Houge , Andrew G L Douglas , Cheryl Longman , Shelagh Joss , Danita Velasco , Raoul C Hennekam , Hiromi Hirata , Vera M Kalscheuer

Réseau de co-auteurs

None None 3 collaborations

Gunnar Houge 2 collaborations

Angela Peron 1 collaboration

Felice D'Arco 1 collaboration

Kimberly A Aldinger 1 collaboration

Constance Smith-Hicks 1 collaboration

Christiane Zweier 1 collaboration

Kimberley Bradbury 1 collaboration

Andrea Accogli 1 collaboration

Erica F Andersen 1 collaboration

Ping Yee Billie Au 1 collaboration

Roberta Battini 1 collaboration

Daniah Beleford 1 collaboration

Lynne M Bird 1 collaboration

Arjan Bouman 1 collaboration

Ange-Line Bruel 1 collaboration

Øyvind Løvold Busk 1 collaboration

Philippe M Campeau 1 collaboration

Valeria Capra 1 collaboration

Colleen Carlston 1 collaboration

Jenny Carmichael 1 collaboration

Anna Chassevent 1 collaboration

Jill Clayton-Smith 1 collaboration

Michael J Bamshad 1 collaboration

Dawn L Earl 1 collaboration

Laurence Faivre 1 collaboration

Christophe Philippe 1 collaboration

Patrick Ferreira 1 collaboration

Luitgard Graul-Neumann 1 collaboration

Mary J Green 1 collaboration

Darrah Haffner 1 collaboration

Parthiv Haldipur 1 collaboration

Suhair Hanna 1 collaboration

Wendy D Jones 1 collaboration

Cornelia Kraus 1 collaboration

Birgit Elisabeth Kristiansen 1 collaboration

James Lespinasse 1 collaboration

Karen J Low 1 collaboration

Sally Ann Lynch 1 collaboration

Sofia Maia 1 collaboration

Rong Mao 1 collaboration

Ruta Kalinauskiene 1 collaboration

Catherine Melver 1 collaboration

Kimberly McDonald 1 collaboration

Tara Montgomery 1 collaboration

Manuela Morleo 1 collaboration

Constance Motter 1 collaboration

Amanda S Openshaw 1 collaboration

Janice Cox Palumbos 1 collaboration

Aditi Shah Parikh 1 collaboration

Yezmin Perilla-Young 1 collaboration

Cynthia M Powell 1 collaboration

Richard Person 1 collaboration

Megha Desai 1 collaboration

Juliette Piard 1 collaboration

Rolph Pfundt 1 collaboration

Marcello Scala 1 collaboration

Margaux Serey-Gaut 1 collaboration

Deborah Shears 1 collaboration

Anne Slavotinek 1 collaboration

Mohnish Suri 1 collaboration

Claire Turner 1 collaboration

Tatiana Tvrdik 1 collaboration

Karin Weiss 1 collaboration

Ingrid M Wentzensen 1 collaboration

Marcella Zollino 1 collaboration

Tzung-Chien Hsieh 1 collaboration

Bert B A de Vries 1 collaboration

Francois Guillemot 1 collaboration

William B Dobyns 1 collaboration

David Viskochil 1 collaboration

Cristina Dias 1 collaboration

Suzanna G M Frints 1 collaboration

Friederike Hennig 1 collaboration

Roberto Colombo 1 collaboration

Sebastien Jacquemont 1 collaboration

Paulien Terhal 1 collaboration

Holly H Zimmerman 1 collaboration

David Hunt 1 collaboration

Bryce A Mendelsohn 1 collaboration

Ulrike Kordaß 1 collaboration

Richard Webster 1 collaboration

Margje Sinnema 1 collaboration

Omar Abdul-Rahman 1 collaboration

Vanessa Suckow 1 collaboration

Alberto Fernández-Jaén 1 collaboration

Kees van Roozendaal 1 collaboration

Servi J C Stevens 1 collaboration

Merryn V E Macville 1 collaboration

Salwan Al-Nasiry 1 collaboration

Koen van Gassen 1 collaboration

Norbert Utzig 1 collaboration

Suzanne M Koudijs 1 collaboration

Lesley McGregor 1 collaboration

Saskia M Maas 1 collaboration

Diana Baralle 1 collaboration

Abhijit Dixit 1 collaboration

Peter Wieacker 1 collaboration

Marcus Lee 1 collaboration

Arthur S Lee 1 collaboration

Elizabeth C Engle 1 collaboration

Andrew G L Douglas 1 collaboration

Cheryl Longman 1 collaboration

Shelagh Joss 1 collaboration

Danita Velasco 1 collaboration

Raoul C Hennekam 1 collaboration

Hiromi Hirata 1 collaboration

Vera M Kalscheuer 1 collaboration