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Juliaan Leroy

Ghent University

30

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612

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Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal myopathy and encephalopathy

2013 European Journal of Human Genetics
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All familial cases of MCLMR are caused by mutations in KIF11

2013
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Mutations in KIF11 cause Microcephaly-Lymphedema-Chorioretinal dysplasia syndrome (MLCRD)

2012
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Recessive Osteogenesis Imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

2009 Journal of Medical Genetics
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Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes

2001 European Journal of Human Genetics
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Lip en/of gehemeltespleet: componenten in een vloeidiagram van multidisciplinaire aanpak

2000
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A mild skeletal dysplasia with acanthosis nigricans due to a K650Q mutation in the FGFR3 gene.

2000 American Journal of Human Genetics
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Pediatrische aanpak bij Groep B streptococcen infecties

1999
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Bruck syndrome: neonatal presentation and natural course in three patients

1998 Pediatric Radiology
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Is de (kinder)arts hersteld van zijn vigintifobie.

1996 Tijdschrift Voor Geneeskunde
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Citations (1)