The Online Metabolic and Molecular Bases of Inherited Disease: Home

Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT

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Waardenburg Syndrome, Andrew P. Read [Abstract] [Full Text]
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Craniosynostosis Syndromes, Maximilian Muenke / Andrew O.M. Wilkie [Abstract] [Full Text]
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Treacher Collins Syndrome, Karen L. Marsh / Michael J. Dixon [Abstract] [Full Text]
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Aarskog-Scott Syndrome, Jerome L. Gorski [Abstract] [Full Text]
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Rubinstein-Taybi Syndrome, Fred Petrij / Rachel H. Giles / Martijn H. Breuning / Raoul C. M. Hennekam [Abstract] [Full Text]
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Smith-Lemli-Opitz Syndrome, Richard I. Kelley / Raoul C. M. Hennekam [Abstract] [Full Text]
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Holoprosencephaly, Maximilian Muenke / Philip A. Beachy [Abstract] [Full Text]
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Hirschsprung Disease, Aravinda Chakravarti / Andrew S. McCallion / Stanislas Lyonnet [Abstract] [Full Text]
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The Oculocerebrorenal Syndrome of Lowe (Lowe Syndrome), Robert L. Nussbaum / Sharon F. Suchy [Abstract] [Full Text]
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Campomelic Dysplasia/Autosomal Sex Reversal/SOX9, Alan J. Schafer [Abstract] [Full Text]
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Hereditary Hearing Loss, Jean-Pierre Hardelin / Sandrine Marlin / Jacqueline Levilliers / Christine Petit [Abstract] [Full Text]
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Rett Syndrome, Huda Y. Zoghbi / Uta Francke [Abstract] [Full Text]