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Tremor and Other Hyperkinetic Movements (New York, N.Y.)|December 26, 2017
Paroxysmal Kinesigenic DyskinesiaMartin Paucar, Helena Malmgren, Per Svenningsson
Fertility and Sterility|October 19, 2010
Hidden mosaicism for a structural chromosome rearrangement: a rare explanation for recurrent miscarriages and affected offspring?Katarina Haapaniemi Kouru, Helena Malmgren, Irene White, et al.
American Journal of Medical Genetics. Part A|August 21, 2007
Distal 3p deletion syndrome: detailed molecular cytogenetic and clinical characterization of three small distal deletions and reviewHelena Malmgren, Sigrid Sahlén, Katarina Wide, et al.
American Journal of Medical Genetics. Part A|December 7, 2013
Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotypeBritt-Marie Anderlid, Johanna Lundin, Helena Malmgren, et al.
Reproductive Biomedicine Online|March 25, 2017
Meiotic segregation analyses of reciprocal translocations in spermatozoa and embryos: no support for predictive value regarding PGD outcomeKatarina Haapaniemi Kouru, Helena Malmgren, Irene White, et al.
Cell Death & Disease|April 19, 2020
Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndromeSofie Bergstrand, Stefanie Böhm, Helena Malmgren, et al.
Neurology. Genetics|April 12, 2016
Expanding the ataxia with oculomotor apraxia type 4 phenotypeMartin Paucar, Helena Malmgren, Malcolm Taylor, et al.
American Journal of Medical Genetics. Part A|April 13, 2012
Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: inter- and intra-individual variation and correlation to the phenotypeMalin Kvarnung, Anna Lindstrand, Helena Malmgren, et al.
Human Mutation|July 17, 2022
Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocationJesper Eisfeldt, Fatemah Rezayee, Maria Pettersson, et al.
Pediatric Blood & Cancer|June 6, 2009
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalitiesGöran Carlsson, Göran Elinder, Helena Malmgren, et al.
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