- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1471-2350
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Duplication 9p and their implication to phenotype ; volume:15 ; number:1 ; day:20 ; month:12 ; year:2014 ; pages:1-8 ; date:12.2014
BMC medical genetics ; 15, Heft 1 (20.12.2014), 1-8, 12.2014
- Creator
-
Guilherme, Roberta Santos
- Contributor
-
Meloni, Vera Ayres
Perez, Ana Beatriz Alvarez
Pilla, Ana Luiza
de Ramos, Marco Antonio Paula
Dantas, Anelisa Gollo
Takeno, Sylvia Satomi
Kulikowski, Leslie Domenici
Melaragno, Maria Isabel
SpringerLink (Online service)
- DOI
-
10.1186/s12881-014-0142-1
- URN
-
urn:nbn:de:1111-2016081217312
- Rights
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 11:01 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
- Guilherme, Roberta Santos
- Meloni, Vera Ayres
- Perez, Ana Beatriz Alvarez
- Pilla, Ana Luiza
- de Ramos, Marco Antonio Paula
- Dantas, Anelisa Gollo
- Takeno, Sylvia Satomi
- Kulikowski, Leslie Domenici
- Melaragno, Maria Isabel
- SpringerLink (Online service)
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Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype
A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inherited
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome
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Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant
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Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?
Methods to prevent duplication
Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family
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Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype
A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inherited
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome
Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant
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