Pernille M Torring

Charlotte Brasch-Andersen 3 collaborations

Pernille Mathiesen Torring 3 collaborations

Allan Bayat 2 collaborations

Boris Keren 2 collaborations

C L Shovlin 2 collaborations

F Droege 2 collaborations

G Manfredi 2 collaborations

P Suppressa 2 collaborations

S Ugolini 2 collaborations

N Coote 2 collaborations

A D Fialla 2 collaborations

G M Lenato 2 collaborations

H J Mager 2 collaborations

F Pagella 2 collaborations

M C Post 2 collaborations

C Sabbà 2 collaborations

U Sure 2 collaborations

P M Torring 2 collaborations

S Dupuis-Girod 2 collaborations

E Buscarini 2 collaborations

Ieva Miceikaite 2 collaborations

Britta Schlott Kristiansen 2 collaborations

Lilian Bomme Ousager 2 collaborations

Martin Jakob Larsen 2 collaborations

Anne Marie Jelsig 1 collaboration

Anette Kjeldsen 1 collaboration

Lise Lotte Christensen 1 collaboration

Birgitte Bertelsen 1 collaboration

John Gásdal Karstensen 1 collaboration

Klaus Brusgaard 1 collaboration

Kevin E Glinton 1 collaboration

Anna C E Hurst 1 collaboration

Kevin M Bowling 1 collaboration

Ingrid Cristian 1 collaboration

Devon Haynes 1 collaboration

Dusit Adstamongkonkul 1 collaboration

Oskar Schnappauf 1 collaboration

David B Beck 1 collaboration

Carole Brewer 1 collaboration

Aditi Shah Parikh 1 collaboration

Deepali N Shinde 1 collaboration

Alan Donaldson 1 collaboration

Ariel Brautbar 1 collaboration

Saskia Koene 1 collaboration

Arie van Haeringen 1 collaboration

Amélie Piton 1 collaboration

Yline Capri 1 collaboration

Margherita Furlan 1 collaboration

Elena Gardella 1 collaboration

Rikke Steensbjerre Møller 1 collaboration

Irma van de Beek 1 collaboration

Linda Zuurbier 1 collaboration

Phillis Lakeman 1 collaboration

Julian Martinez 1 collaboration

Rebecca Signer 1 collaboration

Morten Buch Engelund 1 collaboration

Karen W Gripp 1 collaboration

Louise Amlie-Wolf 1 collaboration

Lindsay B Henderson 1 collaboration

Alina T Midro 1 collaboration

Eugeniusz Tarasów 1 collaboration

Beata Stasiewicz-Jarocka 1 collaboration

Diana Moskal-Jasinska 1 collaboration

Paul Vos 1 collaboration

Felix Boschann 1 collaboration

Corinna Stoltenburg 1 collaboration

Oliver Puk 1 collaboration

Inger-Lise Mero 1 collaboration

Kristine Lossius 1 collaboration

Cyril Mignot 1 collaboration

Johanna C Acosta Guio 1 collaboration

Ignacio Briceño 1 collaboration

Alberto Gomez 1 collaboration

Yaping Yang 1 collaboration

Pawel Stankiewicz 1 collaboration

C M Millar 1 collaboration

A Kjeldsen 1 collaboration

U Geisthoff 1 collaboration

None None 1 collaboration

Christina Fagerberg 1 collaboration

Qin Hao 1 collaboration

Lene Sperling 1 collaboration

Mette Holm Ibsen 1 collaboration

Katrin Löser 1 collaboration

Eske Alf Bendsen 1 collaboration

A D Kjeldsen 1 collaboration

C Rennie 1 collaboration

M C Patel 1 collaboration

T H Nielsen 1 collaboration

D Lefroy 1 collaboration

U Kariholu 1 collaboration

B Jones 1 collaboration

O F Eker 1 collaboration

O Dupuis 1 collaboration

E Boccardi 1 collaboration

A Alsafi 1 collaboration

S Alicante 1 collaboration

Geske Sidsel Bak 1 collaboration

Stephanie Oates 1 collaboration

Michael Absoud 1 collaboration

Sushma Goyal 1 collaboration

Sophie Bayley 1 collaboration

Jennifer Baulcomb 1 collaboration

Annemarie Sims 1 collaboration

Amy Riddett 1 collaboration

Katrina Allis 1 collaboration

Meena Balasubramanian 1 collaboration

Renkui Bai 1 collaboration

Bert Callewaert 1 collaboration

Ulrike Hüffmeier 1 collaboration

Diana Le Duc 1 collaboration

Maximilian Radtke 1 collaboration

Christian Korff 1 collaboration

Joanna Kennedy 1 collaboration

Karen Low 1 collaboration

Rikke S Møller 1 collaboration

Jens Erik Klint Nielsen 1 collaboration

Bernt Popp 1 collaboration

Lina Quteineh 1 collaboration

Gitte Rønde 1 collaboration

Bitten Schönewolf-Greulich 1 collaboration

Amelle Shillington 1 collaboration

Matthew Rg Taylor 1 collaboration

Emily Todd 1 collaboration

Zeynep Tümer 1 collaboration

Georgia Vasileiou 1 collaboration

T Michael Yates 1 collaboration

Christiane Zweier 1 collaboration

Richard Rosch 1 collaboration

M Albert Basson 1 collaboration

Deb K Pal 1 collaboration

Eva Morava 1 collaboration

Ulrich A Schatz 1 collaboration

Mary-Alice Abbott 1 collaboration

Matthias Baumann 1 collaboration

Nathalie Chevalier 1 collaboration

Ulrike Dunkhase-Heinl 1 collaboration

Martin Fleger 1 collaboration

Tobias B Haack 1 collaboration

Stephen Nelson 1 collaboration

Sven Potelle 1 collaboration

Silvia Radenkovic 1 collaboration

Guido T Bommer 1 collaboration

Emile Van Schaftingen 1 collaboration

Maria Veiga-da-Cunha 1 collaboration

Bjørg Krett 1 collaboration

Morten Dunø 1 collaboration

John Vissing 1 collaboration

Julian Delanne 1 collaboration

Magaly Lecat 1 collaboration

Patrick R Blackburn 1 collaboration

Eric W Klee 1 collaboration

Constance T R M Stumpel 1 collaboration

Sander Stegmann 1 collaboration

Servi J C Stevens 1 collaboration

Caroline Nava 1 collaboration

Delphine Heron 1 collaboration

Sonal Mahida 1 collaboration

Sakkubai Naidu 1 collaboration

Dusica Babovic-Vuksanovic 1 collaboration

Johanna C Herkert 1 collaboration

Maria Kibæk 1 collaboration

Isabelle De Bie 1 collaboration

Rolph Pfundt 1 collaboration

Yvonne M C Hendriks 1 collaboration

Renee Bend 1 collaboration

Hannah Warren 1 collaboration

Steven A Skinner 1 collaboration

Michael J Lyons 1 collaboration

Charlotte Pöe 1 collaboration

Martin Chevarin 1 collaboration

Thibaud Jouan 1 collaboration

Aurore Garde 1 collaboration

Quentin Thomas 1 collaboration

Paul Kuentz 1 collaboration

Emilie Tisserant 1 collaboration

Yannis Duffourd 1 collaboration

Christophe Philippe 1 collaboration

Laurence Faivre 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Affiliations

Publications (10)

Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.

Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia.

Comprehensive prenatal diagnostics: Exome versus genome sequencing.

The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care.

Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death.

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.

Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.

Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features.

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.

Réseau de co-auteurs