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Publications by Jos Herbergs
Holoprosencephaly and Preaxial Polydactyly Associated With a 1.24 Mb Duplication Encompassing FBXW11 at 5q35.1
Journal of Human Genetics
Genetics
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Holoprosencephaly and Polydactyly: A Possible Expression of the Hydrolethalus Syndrome.
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Epilepsy Phenotype in Individuals With Chromosomal Duplication Encompassing FGF12
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Preaxial Polydactyly/Triphalangeal Thumb Is Associated With Changed Transcription Factor-Binding Affinity in a Family With a Novel Point Mutation in the Long-Range Cis-Regulatory Element ZRS
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A Novel 13 Base Pair Insertion in the Sonic Hedgehog ZRS Limb Enhancer (ZRS/LMBR1) Causes Preaxial Polydactyly With Triphalangeal Thumb
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Epidemiology of Isolated Preaxial Polydactyly Type I: Data From the Polish Registry of Congenital Malformations (PRCM)
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Evidence for Disease Penetrance Relating to CNV Size: Pelizaeus-Merzbacher Disease and Manifesting Carriers With a Familial 11 Mb Duplication at Xq22
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Recurrent 70.8 Mb 4q22.2q32.3 Duplication Due to Ovarian Germinal Mosaicism
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Copy Number Variation Meta-Analysis Reveals a Novel Duplication at 9p24 Associated With Multiple Neurodevelopmental Disorders
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