| Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies M Mazurkiewicz-Bełdzińska, M Del Toro, G Haliloğlu, HH Huidekoper, ... Expert Review of Neurotherapeutics 21 (11), 1275-1282, 2021 | 11 | 2021 |
| Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1 SL Faergeman, AB Bojesen, M Rasmussen, N Becher, L Andreasen, ... European Journal of Medical Genetics 64 (9), 104280, 2021 | 6 | 2021 |
| Novel TRPV4 variant causes a severe form of metatropic dysplasia L Graversen, A Haagerup, BN Andersen, KK Petersen, V Gjørup, ... Clinical Case Reports 6 (9), 1774, 2018 | 5 | 2018 |
| The treatment of post stroke-depression and emotionalism in clinical practice SC Olesen, B Andersen, A Kofoed-Enevoldsen Ugeskrift for laeger 169 (16), 1470-1472, 2007 | 5 | 2007 |
| Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2 S Markholt, L Andreasen, J Bjerre, PA Gregersen, BN Andersen European Journal of Medical Genetics 66 (2), 104695, 2023 | 2 | 2023 |
| Incidence of Aicardi-Goutières syndrome and KCNT1-related epilepsy in Denmark RS Møller, L Zhao, JR Shoaff, M Duno, BN Andersen, V Nguyen, TC Fang, ... Molecular Genetics and Metabolism Reports 33, 100924, 2022 | 2 | 2022 |
| Diagnosis, monitoring and treatment of tuberous sclerosis complex M Reinhard, L Sunde, MG Madsen, BN Andersen, E Bendstrup, ... Ugeskrift for Laeger 181 (45), V05190293-V05190293, 2019 | 2 | 2019 |
| Pacemaker Implantation in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)–A Long-Term Follow-Up Study MM Handrup, H Mølgaard, BN Andersen, JR Ostergaard Frontiers in Neurology 13, 846240, 2022 | 1 | 2022 |
| Udredning, opfølgning og behandling af tuberøs sklerose-kompleks DOGK MANIFESTATIONER Ugeskr Læger 181, V05190293, 2019 | 1 | 2019 |
| Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants LK Herlin, MK Herlin, J Blechingberg, K Rønholt, L Graversen, ... European Journal of Medical Genetics 69, 104937, 2024 | | 2024 |
| Fjederkraniotomi til børn med kraniosynostose BN Andersen Ugeskrift for Læger, UFL-12-23-0791, 2024 | | 2024 |
| A de novo FBN1 missense variant associated with a severe phenotype of early onset Marfan syndrome BN Andersen European Journal of Human Genetics, 2024 | | 2024 |
| Phenotypes, genetics, and prevalence of focal dermal hypoplasia (Goltz syndrome): a single-center report BN Andersen European Journal of Human Genetics, 2024 | | 2024 |
| Guidelines on the Diagnosis, Clinical Assessments, Treatment and Management for Patients with CLN3 (Batten Disease) BN Andersen Orphanet Journal of Rare Diseases, 2024 | | 2024 |
| Incidence of KCNT1-related Epilepsy in Denmark JR Shoaff, RS Moller, L Zhao, M Dunø, BN Andersen, TC Fang, ... | | 2023 |
| A previously unreported de novo FBN1 missense variant associated with a severe phenotype of neonatal Marfan syndrome BN Andersen | | 2022 |
| Spielmeyer-Vogts sygdom: Sygdomsbeskrivelse på Lægehåndbogen BN Andersen, F Skovby, HC Kjeldsen | | 2020 |
| Strategies to shorten diagnostic delays for late infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease) M Mazurkiewicz-Beldziska, M Del Toro, A Hahn, G Haliloglu, ... | | 2020 |
| A novel de novo frameshift variant identified in AHDC1 in two unrelated boys with Xia-Gibbs syndrome SL Faergeman, PA Gregersen, BN Andersen, N Becher, AB Bojesen | | 2019 |
| Forløbsbeskrivelse for børn og unge med sjældne handicap BN Andersen | | 2019 |
Pasquale Striano, MD, PhDPediatric neurologist, IRCCS 'G. Gaslini'; Professor of Paediatrics, University of GenovaVerified email at gaslini.org
