Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1750-1172
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex ; volume:9 ; number:1 ; day:21 ; month:10 ; year:2014 ; pages:1-12 ; date:12.2014
Orphanet journal of rare diseases ; 9, Heft 1 (21.10.2014), 1-12, 12.2014
- Creator
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Nagata, Eiko
- Contributor
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Kano, Hiroki
Kato, Fumiko
Yamaguchi, Rie
Nakashima, Shinichi
Takayama, Shinichiro
Kosaki, Rika
Tonoki, Hidefumi
Mizuno, Seiji
Watanabe, Satoshi
Yoshiura, Koh-ichiro
Kosho, Tomoki
Hasegawa, Tomonobu
Kimizuka, Mamori
Suzuki, Atsushi
Shimizu, Kenji
Ohashi, Hirofumi
Haga, Nobuhiko
Numabe, Hironao
Horii, Emiko
Nagai, Toshiro
Yoshihashi, Hiroshi
Nishimura, Gen
Toda, Tatsushi
Takada, Shuji
Yokoyama, Shigetoshi
Asahara, Hiroshi
Sano, Shinichiro
Fukami, Maki
Ikegawa, Shiro
Ogata, Tsutomu
SpringerLink (Online service)
- DOI
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10.1186/s13023-014-0125-5
- URN
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urn:nbn:de:1111-2016050125082
- Rights
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:56 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
- Nagata, Eiko
- Kano, Hiroki
- Kato, Fumiko
- Yamaguchi, Rie
- Nakashima, Shinichi
- Takayama, Shinichiro
- Kosaki, Rika
- Tonoki, Hidefumi
- Mizuno, Seiji
- Watanabe, Satoshi
- Yoshiura, Koh-ichiro
- Kosho, Tomoki
- Hasegawa, Tomonobu
- Kimizuka, Mamori
- Suzuki, Atsushi
- Shimizu, Kenji
- Ohashi, Hirofumi
- Haga, Nobuhiko
- Numabe, Hironao
- Horii, Emiko
- Nagai, Toshiro
- Yoshihashi, Hiroshi
- Nishimura, Gen
- Toda, Tatsushi
- Takada, Shuji
- Yokoyama, Shigetoshi
- Asahara, Hiroshi
- Sano, Shinichiro
- Fukami, Maki
- Ikegawa, Shiro
- Ogata, Tsutomu
- SpringerLink (Online service)
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An Unusual Case of Neurenteric Cyst in a Patient with Split Cord Malformation
A rare case of type 1 C split cord malformation with single dural sheath
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
Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation
A unique case of split cord malformation type 1 with three different types of bony spurs
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Genome rearrangements with duplications
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
Dermal sinus tract associated with type I and type II split cord malformation
An Unusual Case of Neurenteric Cyst in a Patient with Split Cord Malformation
A rare case of type 1 C split cord malformation with single dural sheath
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
Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation
A unique case of split cord malformation type 1 with three different types of bony spurs
Unusual cause of incomplete cauda equina syndrome: dermoid cyst with a split cord malformation case report
Pituitary Adenoma with Apoplexy with Arteriovenous Malformation
Genome rearrangements with duplications
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
Dermal sinus tract associated with type I and type II split cord malformation
An Unusual Case of Neurenteric Cyst in a Patient with Split Cord Malformation
A rare case of type 1 C split cord malformation with single dural sheath
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
Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation
A unique case of split cord malformation type 1 with three different types of bony spurs
Unusual cause of incomplete cauda equina syndrome: dermoid cyst with a split cord malformation case report