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Timmermans J

Katholieke Universiteit Leuven

10

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The Floating-Harbor syndrome : two affected siblings in a family

2008 Clinical Genetics
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The association of hemifacial microsomia, homolateral micro/anophthalmos, hemihypotrophy, dental anomalies, submucous cleft palate, CNS malformations and hypopigmented skin lesions following Blaschko's lines in two unrelated female patients. Further evidence for a lethal mutation surviving in mosaic form in "hypomelanosis of Ito".

1993 Genetic Counseling
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Familial infantile cortical hyperostosis

1983 European Journal of Pediatrics
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Pierre-Robin anomalad, moderate mental retardation and distal 4q deletion.

1981 Annales De Genetique
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Caudal regression anomalad.

1981 Acta paediatrica Belgica
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Tricho-rhino-phalangeal syndrome type II: Langer-Giedion syndrome in a 2.5 years-old boy.

1980 Journal de génétique humaine
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The Wolf-Hirschhorn syndrome. Deletion of the short arm of chromosome 4.

1979 Acta paediatrica Belgica
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MAPLE SYRUP URINE DISEASE

1963 Maandschrift voor kindergeneeskunde
- Timmermans J
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