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JIMD Reports|May 12, 2021
Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasiaOlivia Sarah Strandbech, Allan Lund, Elsebet OstergaardMolecular Vision|June 17, 2011
A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa casesElsebet Ostergaard, Morten Duno, Mustafa Batbayli, et al.Biochimica Et Biophysica Acta|February 8, 2011
The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletionChaya Miller, Liya Wang, Elsebet Ostergaard, et al.Human Molecular Genetics|November 5, 2004
Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromesSabine Duchatelet, Elsebet Ostergaard, Dina Cortes, et al.American Journal of Medical Genetics. Part A|September 24, 2015
Hearing impairment and renal failure associated with RMND1 mutationsKirstine Ravn, Mette Neland, Flemming Wibrand, et al.European Journal of Human Genetics : EJHG|May 26, 2018
A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorderMaria Barington, Lotte Risom, Jakob Ek, et al.Neurology|February 26, 2003
Evidence for a separate type of migraine with aura: sporadic hemiplegic migraineLise L Thomsen, Elsebet Ostergaard, Jes Olesen, et al.Neuropediatrics|July 13, 2016
Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New PatientMaria Schioldan Kusk, Bodil Damgaard, Lotte Risom, et al.Cytogenetic and Genome Research|February 9, 2023
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental DelayEmanuele G Coci, Ornella Galesi, Thomas Morgan, et al.European Journal of Pediatrics|June 16, 2009
A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduriaElsebet Ostergaard, Marianne Schwartz, Mustafa Batbayli, et al.Pageof 4