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Author/Creator Brunner, H G

1. A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype. Issue 11 (19th November 2003)

Authors:
Beltrán-Valero de Bernabé, D; van Bokhoven, H; van Beusekom, E; Van den Akker, W; Kant, S; Dobyns, W B; Cormand, B; Currier, S; Hamel, B; Talim, B; Topaloglu, H; Brunner, H G
Journal:
Journal of medical genetics
Issue:
Volume 40:Issue 11(2003)
Page Start:
845
Record Type:
Journal Article
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2. A second locus for Aicardi-Goutières syndrome at chromosome 13q14–21. Issue 5 (20th May 2005)

Authors:
Ali, M; Highet, L J; Lacombe, D; Goizet, C; King, M D; Tacke, U; van der Knaap, M S; Lagae, L; Rittey, C; Brunner, H G; van Bokhoven, H; Hamel, B; Oade, Y A; Sanchis, A; Desguerre, I; Cau, D; Mathieu, N; Moutard, M L; Lebon, P; Kumar, D
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 5(2006)
Page Start:
444
Record Type:
Journal Article
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3. A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population. Issue 9 (5th September 2003)

Authors:
Yzer, S; van den Born, L I; Schuil, J; Kroes, H Y; van Genderen, M M; Boonstra, F N; van den Helm, B; Brunner, H G; Koenekoop, R K; Cremers, F P M
Journal:
Journal of medical genetics
Issue:
Volume 40:Issue 9(2003)
Page Start:
709
Record Type:
Journal Article
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6. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. Issue 4 (9th September 2005)

Authors:
Jongmans, M C J; Admiraal, R J; van der Donk, K P; Vissers, L E L M; Baas, A F; Kapusta, L; van Hagen, J M; Donnai, D; de Ravel, T J; Veltman, J A; Geurts van Kessel, A; De Vries, B B A; Brunner, H G; Hoefsloot, L H; van Ravenswaaij, C M A
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 4(2006)
Page Start:
306
Record Type:
Journal Article
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7. Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. Issue 6 (4th January 2008)

Authors:
van Bon, B W M; Koolen, D A; Borgatti, R; Magee, A; Garcia-Minaur, S; Rooms, L; Reardon, W; Zollino, M; Bonaglia, M C; De Gregori, M; Novara, F; Grasso, R; Ciccone, R; van Duyvenvoorde, H A; Aalbers, A M; Guerrini, R; Fazzi, E; Nillesen, W M; McCullough, S; Kant, S G
Journal:
Journal of medical genetics
Issue:
Volume 45:Issue 6(2008)
Page Start:
346
Record Type:
Journal Article
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8. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. Issue 11 (15th July 2008)

Authors:
Koolen, D A; Sharp, A J; Hurst, J A; Firth, H V; Knight, S J L; Goldenberg, A; Saugier-Veber, P; Pfundt, R; Vissers, L E L M; Destrée, A; Grisart, B; Rooms, L; Van der Aa, N; Field, M; Hackett, A; Bell, K; Nowaczyk, M J M; Mancini, G M S; Poddighe, P J; Schwartz, C E
Journal:
Journal of medical genetics
Issue:
Volume 45:Issue 11(2008)
Page Start:
710
Record Type:
Journal Article
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9. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Issue 6 (2nd April 2009)

Authors:
Lacbawan, F; Solomon, B D; Roessler, E; El-Jaick, K; Domené, S; Vélez, J I; Zhou, N; Hadley, D; Balog, J Z; Long, R; Fryer, A; Smith, W; Omar, S; McLean, S D; Clarkson, K; Lichty, A; Clegg, N J; Delgado, M R; Levey, E; Stashinko, E
Journal:
Journal of medical genetics
Issue:
Volume 46:Issue 6(2009)
Page Start:
389
Record Type:
Journal Article
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10. Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. Issue 4 (1st April 2005)

Authors:
Kleefstra, T; Smidt, M; Banning, M J G; Oudakker, A R; Van Esch, H; de Brouwer, A P M; Nillesen, W; Sistermans, E A; Hamel, B C J; de Bruijn, D; Fryns, J-P; Yntema, H G; Brunner, H G; de Vries, B B A; van Bokhoven, H
Journal:
Journal of medical genetics
Issue:
Volume 42:Issue 4(2005)
Page Start:
299
Record Type:
Journal Article
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