A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1432-1203
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
-
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation ; volume:122 ; number:2 ; day:14 ; month:6 ; year:2007 ; pages:191-199 ; date:9.2007
Human genetics; 122, Heft 2 (14.6.2007), 191-199, 9.2007
- Creator
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Babbs, Christian
Heller, Raoul
Everman, David B.
Crocker, Mark
Twigg, Stephen R. F.
Schwartz, Charles E.
Giele, Henk
Wilkie, Andrew O. M.
- Contributor
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SpringerLink (Online service)
- DOI
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10.1007/s00439-007-0390-7
- URN
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urn:nbn:de:101:1-2021082419564818799071
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:50 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Babbs, Christian
- Heller, Raoul
- Everman, David B.
- Crocker, Mark
- Twigg, Stephen R. F.
- Schwartz, Charles E.
- Giele, Henk
- Wilkie, Andrew O. M.
- SpringerLink (Online service)
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Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation
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Split hand/foot malformation type 1 associated with 7q21.3 deletion - a case report
A Case Report of Fetal Split Hand Foot Malformation Syndrome: A Rare Congenital Limb Anomaly
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex
A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study
Accessory foot bones in a Portuguese identified skeletal collection
Automatic scan triggering software "confused": Computed tomography angiography in foot arteriovenous malformation!
Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation
Split hand-split foot malformation : determining the frequency of genomic aberrations with molecular-genetic methods
Split hand/foot malformation type 1 associated with 7q21.3 deletion - a case report
A Case Report of Fetal Split Hand Foot Malformation Syndrome: A Rare Congenital Limb Anomaly
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex
A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study
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