Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
Cossée, Mireille, Dürr, Alexandra, Schmitt, Michèle, Dahl, Niklas, Trouillas, Paul, Allinson, Patricia, Kostrzewa, Markus, Nivelon-Chevallier, Annie, Gustavson, Karl-Henrik, Kohlschütter, Alfried, Müller, Ulrich, Mandel, Jean-Louis, Brice, Alexis, Koenig, Michel, Cavalcanti, Francesca, Tammaro, Angela, De Michele, Giuseppe, Filla, Alessandro, Cocozza, Sergio, Labuda, Malgorzata, Montermini, Laura, Poirier, Josée, Pandolfo, Massimo
Published in Annals of neurology (01.02.1999)
Published in Annals of neurology (01.02.1999)
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Re-evaluation of the dysequilibrium syndrome
Melberg, A., Örlén, H., Raininko, R., Entesarian, M., Dahlqvist, J., Gustavson, K. H., Dahl, N.
Published in Acta neurologica Scandinavica (01.01.2011)
Published in Acta neurologica Scandinavica (01.01.2011)
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Mild intellectual disability in children in Lahore, Pakistan: Aetiology and risk factors
Yaqoob, M., Bashir, A., Zaman, S., Ferngren, H., Von Dobeln, U., Gustavson, K.-H.
Published in Journal of intellectual disability research (01.10.2004)
Published in Journal of intellectual disability research (01.10.2004)
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Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium
HÖGLUND, P, SISTONEN, P, NORIO, R, HOLMBERG, C, DIMBERG, A, GUSTAVSON, K.-H, DE LA CHAPELLE, A, KERE, J
Published in American journal of human genetics (01.07.1995)
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Published in American journal of human genetics (01.07.1995)
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Severe mental retardation in 2 to 24-month-old children in Lahore, Pakistan: a prospective cohort study
Yaqoob, M, Bashir, A, Tareen, K, Gustavson, K H, Nazir, R, Jalil, F, von Döbeln, U, Ferngren, H
Published in Acta pædiatrica (Oslo) (01.03.1995)
Published in Acta pædiatrica (Oslo) (01.03.1995)
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The gene for Best's macular dystrophy is located at 11q13 in a Swedish family
Forsman, K, Graff, C, Nordström, S, Johansson, K, Westermark, E, Lundgren, E, Gustavson, K H, Wadelius, C, Holmgren, G
Published in Clinical genetics (01.09.1992)
Published in Clinical genetics (01.09.1992)
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Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene
Steén-Bondeson, M L, Dahl, N, Tönnesen, T, Kleijer, W J, Seidlitz, G, Gustavson, K H, Wilson, P J, Morris, C P, Hopwood, J J, Pettersson, U
Published in Human molecular genetics (01.06.1992)
Published in Human molecular genetics (01.06.1992)
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Further evidence of genetic homogeneity in Sjögren-Larsson syndrome
PIGG, M, ANNTON-LAMPRECHT, I, BRAUN-QUENTIN, C, GUSTAVSON, K.-H, WADELIUS, C
Published in Acta dermato-venereologica (1999)
Published in Acta dermato-venereologica (1999)
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Linkage mapping of a severe X-linked mental retardation syndrome
MALMGREN, H, SUNDVALL, M, DAHL, N, GUSTAVSON, K.-H, ANNEREN, G, WADELIUS, C, STEEN-BONDESON, M.-L, PETTERSSON, U
Published in American journal of human genetics (01.06.1993)
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Published in American journal of human genetics (01.06.1993)
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Achondroplasia in Sweden caused by the G1138A mutation in FGFR3
Alderborn, A, Anvret, M, Gustavson, K H, Hagenäs, L, Wadelius, C
Published in Acta pædiatrica (Oslo) (01.12.1996)
Published in Acta pædiatrica (Oslo) (01.12.1996)
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Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304)
DAHL, N, GOONEWARDENA, P, MALMGREN, H, GUSTAVSON, K.-H, HOLMGREN, G, SEEMANOVA, E, ANNEREN, G, FLOOD, A, PETTERSSON, U
Published in American journal of human genetics (01.08.1989)
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Published in American journal of human genetics (01.08.1989)
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Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene
Richards, F M, Maher, E R, Latif, F, Phipps, M E, Tory, K, Lush, M, Crossey, P A, Oostra, B, Enblad, P, Gustavson, K H
Published in Journal of medical genetics (01.02.1993)
Published in Journal of medical genetics (01.02.1993)
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Risk factors for mortality in young children living under various socio-economic conditions in Lahore, Pakistan: with particular reference to inbreeding
Yaqoob, Muhammad, Cnattingius, Sven, Jalil, Fehmida, Zaman, Shakila, Iselius, Lennart, Gustavson, Karl-Henrik
Published in Clinical genetics (01.11.1998)
Published in Clinical genetics (01.11.1998)
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Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome
Dahl, N, Hammarström-Heeroma, K, Goonewardena, P, Wadelius, C, Gustavson, K H, Holmgren, G, van Ommen, G J, Pettersson, U
Published in Human genetics (01.06.1989)
Published in Human genetics (01.06.1989)
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Fragile X syndrome in mildly mentally retarded children in a northern Swedish county. A prevalence study
Blomquist, H K, Gustavson, K H, Holmgren, G, Nordenson, I, Pålsson-Stråe, U
Published in Clinical genetics (01.12.1983)
Published in Clinical genetics (01.12.1983)
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Autosomal dominant cerebellar ataxia deafness and narcolepsy
Melberg, Atle, Hetta, Jerker, Dahl, Niklas, Nennesmo, Inger, Bengtsson, Mats, Wibom, Rolf, Grant, Crawford, Gustavson, Karl Henrik, Lundberg, Per Olov
Published in Journal of the neurological sciences (01.12.1995)
Published in Journal of the neurological sciences (01.12.1995)
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