Of mice and men: molecular genetics of congenital heart disease

por Andersen, Troels Askhøj, Troelsen, Karin de Linde Lind, Larsen, Lars Allan
Publicado 2013

Patient-specific three-dimensional explant spheroids derived from human nasal airway epithelium: a simple methodological approach for ex vivo studies of primary ciliary dyskinesia

por Marthin, June Kehlet, Stevens, Elizabeth Munkebjerg, Larsen, Lars Allan, Christensen, Søren Tvorup, Nielsen, Kim Gjerum
Publicado 2017

Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2‐5 Mutation and a Review of the Literature

por Ellesøe, Sabrina Gade, Johansen, Morten Munk, Bjerre, Jesper Vandborg, Hjortdal, Vibeke Elisabeth, Brunak, Søren, Larsen, Lars Allan
Publicado 2015

MCPH1: A Novel Case Report and a Review of the Literature

por Caraffi, Stefano Giuseppe, Pollazzon, Marzia, Farooq, Muhammad, Fatima, Ambrin, Larsen, Lars Allan, Zuntini, Roberta, Napoli, Manuela, Garavelli, Livia
Publicado 2022

IFT20 modulates ciliary PDGFRα signaling by regulating the stability of Cbl E3 ubiquitin ligases

por Schmid, Fabian Marc, Schou, Kenneth Bødtker, Vilhelm, Martin Juel, Holm, Maria Schrøder, Breslin, Loretta, Farinelli, Pietro, Larsen, Lars Allan, Andersen, Jens Skorstengaard, Pedersen, Lotte Bang, Christensen, Søren Tvorup
Publicado 2018

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

por Farooq, Muhammad, Lindbæk, Louise, Krogh, Nicolai, Doganli, Canan, Keller, Cecilie, Mönnich, Maren, Gonçalves, André Brás, Sakthivel, Srinivasan, Mang, Yuan, Fatima, Ambrin, Andersen, Vivi Søgaard, Hussain, Muhammad S., Eiberg, Hans, Hansen, Lars, Kjaer, Klaus Wilbrandt, Gopalakrishnan, Jay, Pedersen, Lotte Bang, Møllgård, Kjeld, Nielsen, Henrik, Baig, Shahid. M., Tommerup, Niels, Christensen, Søren Tvorup, Larsen, Lars Allan
Publicado 2020

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease

por Audain, Enrique, Wilsdon, Anna, Breckpot, Jeroen, Izarzugaza, Jose M. G., Fitzgerald, Tomas W., Kahlert, Anne-Karin, Sifrim, Alejandro, Wünnemann, Florian, Perez-Riverol, Yasset, Abdul-Khaliq, Hashim, Bak, Mads, Bassett, Anne S., Benson, Woodrow D., Berger, Felix, Daehnert, Ingo, Devriendt, Koenraad, Dittrich, Sven, Daubeney, Piers EF, Garg, Vidu, Hackmann, Karl, Hoff, Kirstin, Hofmann, Philipp, Dombrowsky, Gregor, Pickardt, Thomas, Bauer, Ulrike, Keavney, Bernard D., Klaassen, Sabine, Kramer, Hans-Heiner, Marshall, Christian R., Milewicz, Dianna M., Lemaire, Scott, Coselli, Joseph S., Mitchell, Michael E., Tomita-Mitchell, Aoy, Prakash, Siddharth K., Stamm, Karl, Stewart, Alexandre F. R., Silversides, Candice K., Siebert, Reiner, Stiller, Brigitte, Rosenfeld, Jill A., Vater, Inga, Postma, Alex V., Caliebe, Almuth, Brook, J. David, Andelfinger, Gregor, Hurles, Matthew E., Thienpont, Bernard, Larsen, Lars Allan, Hitz, Marc-Phillip
Publicado 2021

Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease

por Audain, Enrique, Wilsdon, Anna, Breckpot, Jeroen, Izarzugaza, Jose M. G., Fitzgerald, Tomas W., Kahlert, Anne-Karin, Sifrim, Alejandro, Wünnemann, Florian, Perez-Riverol, Yasset, Abdul-Khaliq, Hashim, Bak, Mads, Bassett, Anne S., Benson, D. Woodrow, Berger, Felix, Daehnert, Ingo, Devriendt, Koenraad, Dittrich, Sven, Daubeney, Piers EF, Garg, Vidu, Hackmann, Karl, Hoff, Kirstin, Hofmann, Philipp, Dombrowsky, Gregor, Pickardt, Thomas, Bauer, Ulrike, Keavney, Bernard D., Klaassen, Sabine, Kramer, Hans-Heiner, Marshall, Christian R., Milewicz, Dianna M., Lemaire, Scott, Coselli, Joseph S., Mitchell, Michael E., Tomita-Mitchell, Aoy, Prakash, Siddharth K., Stamm, Karl, Stewart, Alexandre F. R., Silversides, Candice K., Siebert, Reiner, Stiller, Brigitte, Rosenfeld, Jill A., Vater, Inga, Postma, Alex V., Caliebe, Almuth, Brook, J. David, Andelfinger, Gregor, Hurles, Matthew E., Thienpont, Bernard, Larsen, Lars Allan, Hitz, Marc-Phillip
Publicado 2021