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Journal Article
Ugeskrift for laeger, 12/2014, Volume 176, Issue 25
Journal Article
Ugeskrift for Laeger, ISSN 0041-5782, 2012, Volume 174, Issue 17, pp. 1152 - 1155
Journal Article
Ugeskrift for Laeger, ISSN 0041-5782, 02/2010, Volume 172, Issue 8
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 05/2018, Volume 108, pp. 208 - 212
Evaluation of clinical findings and audiological outcome after surgery in a Danish family with autosomal dominant facio-audio-symphalangism syndrome with... 
Noggin | Stapedectomy | Facio-audio-symphalangism syndrome | Stapes fixation | NOG | Stapes ankyloses | FACIOAUDIOSYMPHALANGISM SYNDROME | HYPEROPIA | MULTIPLE SYNOSTOSIS SYNDROME | GENE-ENCODING NOGGIN | CONDUCTIVE HEARING-LOSS | MORPHOGENESIS | OTORHINOLARYNGOLOGY | PROXIMAL SYMPHALANGISM | TEUNISSEN-CREMERS-SYNDROME | PEDIATRICS | ANKYLOSIS | BROAD THUMBS | Index Medicus
Journal Article
by Böhm, Johann and Biancalana, Valerie and DeChene, Elizabeth T and Bitoun, Marc and Pierson, Christopher R and Schaefer, Elise and Karasoy, Hatice and Dempsey, Melissa A and Klein, Fabrice and Dondaine, Nicolas and Kretz, Christine and Haumesser, Nicolas and Poirson, Claire and Toussaint, Anne and Greenleaf, Rebecca S and Barger, Melissa A and Mahoney, Lane J and Kang, Peter B and Zanoteli, Edmar and Vissing, John and Witting, Nanna and Echaniz-Laguna, Andoni and Wallgren-Pettersson, Carina and Dowling, James and Merlini, Luciano and Oldfors, Anders and Ousager, Lilian Bomme and Melki, Judith and Krause, Amanda and Jern, Christina and Oliveira, Acary S.B and Petit, Florence and Jacquette, Aurélia and Chaussenot, Annabelle and Mowat, David and Leheup, Bruno and Cristofano, Michele and Aldea, Juan José Poza and Michel, Fabrice and Furby, Alain and Llona, Jose E. Barcena and Van Coster, Rudy and Bertini, Enrico and Urtizberea, Jon Andoni and Drouin-Garraud, Valérie and roud, Christophe Bé and Prudhon, Bernard and Bedford, Melanie and Mathews, Katherine and Erby, Lori A.H and Smith, Stephen A and Roggenbuck, Jennifer and Crowe, Carol A and Spitale, Allison Brennan and Johal, Sheila C and Amato, Anthony A and Demmer, Laurie A and Jonas, Jessica and Darras, Basil T and Bird, Thomas D and Laurino, Mercy and Welt, Selman I and Trotter, Cynthia and Guicheney, Pascale and Das, Soma and Mandel, Jean-Louis and Beggs, Alan H and Laporte, Jocelyn and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Pathology and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy and Institutionen för biomedicin, avdelningen för patologi and Sahlgrenska akademin
Human Mutation, ISSN 1059-7794, 06/2012, Volume 33, Issue 6, pp. 949 - 959
Journal Article
Journal of Lipid Research, ISSN 0022-2275, 2014, Volume 55, Issue 6, pp. 1165 - 1172
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2017, Volume 101, Issue 6, pp. 1013 - 1020
Using trio whole-exome sequencing, we have identified heterozygous pathogenic variants in in five unrelated individuals with intellectual disability and other... 
exome sequencing | AMPA receptor | de novo | speech delay | GluR4 | seizures | intellectual disability | GRIA4 | GLUTAMATE-RECEPTOR | MOVEMENT-DISORDERS | GENETIC-VARIATION | NMDA RECEPTOR | GRIN1 MUTATIONS | AMPA RECEPTOR CHANNELS | EPILEPTIC ENCEPHALOPATHIES | CEREBELLAR-ATAXIA | GENETICS & HEREDITY | DOMAINS | FOCAL EPILEPSY | Index Medicus | Report
Journal Article
Ugeskrift for laeger, 02/2010, Volume 172, Issue 8, p. 622
Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium... 
Seizures, Febrile - diagnosis | Diagnosis, Differential | Prognosis | Humans | Anticonvulsants - therapeutic use | Child, Preschool | Infant | Syndrome | Epilepsies, Myoclonic - diagnosis | Epilepsies, Myoclonic - drug therapy | Sodium Channels - genetics | Early Diagnosis | Epilepsies, Myoclonic - genetics
Journal Article
Ugeskrift for laeger, 02/2010, Volume 172, Issue 8, p. 626
Dravet syndrome is an epileptic syndrome of infancy. We describe the features of two cases with genetically verified SCNA1 mutations. The diagnosis was... 
Humans | Anticonvulsants - therapeutic use | Child, Preschool | Infant | Male | Delayed Diagnosis | Syndrome | Epilepsies, Myoclonic - diagnosis | Adolescent | Female | Epilepsies, Myoclonic - drug therapy | Sodium Channels - genetics | Mutation | Child | Early Diagnosis | Epilepsies, Myoclonic - genetics
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 01/2018, Volume 6, Issue 1, pp. 121 - 125
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2018, Volume 103, Issue 2, pp. 305 - 316
Journal Article