A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
2054-345X
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation ; volume:6 ; number:1 ; day:5 ; month:12 ; year:2018 ; pages:1-4 ; date:12.2019
Human genome variation ; 6, Heft 1 (5.12.2018), 1-4, 12.2019
- Creator
-
Iida, Aritoshi
Takeshita, Eri
Kosugi, Shunichi
Kamatani, Yoichiro
Momozawa, Yukihide
Kubo, Michiaki
Nakagawa, Eiji
Kurosawa, Kenji
Inoue, Ken
Goto, Yu-ichi
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1038/s41439-018-0032-8
- URN
-
urn:nbn:de:101:1-2019012321055047583665
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:45 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
- Iida, Aritoshi
- Takeshita, Eri
- Kosugi, Shunichi
- Kamatani, Yoichiro
- Momozawa, Yukihide
- Kubo, Michiaki
- Nakagawa, Eiji
- Kurosawa, Kenji
- Inoue, Ken
- Goto, Yu-ichi
- SpringerLink (Online service)
Other Objects (12)
Revisiting dandy–Walker malformation with associated neurofibromatosis
RARE ASSOCIATION OF DOWN SYNDROME WITH DANDY WALKER MALFORMATION
Dandy-Walker malformation in methylmalonic acidemia: a rare case report
Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy–Walker malformation
The Dandy-Walker syndrome
A fetopathological and clinical study of the Dandy-Walker malformation and a literature review
Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
Dandy Walker malformation variant associated with refractory seizures in a 6-month-old baby: case report
Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
Role of Transesophageal ECHO in Ventriculoperitoneal Shunt Surgery for a Child with Dandy–Walker Malformation: A Case Report
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions
Cochlear implantation in patient with Dandy-walker syndrome
Revisiting dandy–Walker malformation with associated neurofibromatosis
RARE ASSOCIATION OF DOWN SYNDROME WITH DANDY WALKER MALFORMATION
Dandy-Walker malformation in methylmalonic acidemia: a rare case report
Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy–Walker malformation
The Dandy-Walker syndrome
A fetopathological and clinical study of the Dandy-Walker malformation and a literature review
Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
Dandy Walker malformation variant associated with refractory seizures in a 6-month-old baby: case report
Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
Role of Transesophageal ECHO in Ventriculoperitoneal Shunt Surgery for a Child with Dandy–Walker Malformation: A Case Report
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions
Cochlear implantation in patient with Dandy-walker syndrome
Revisiting dandy–Walker malformation with associated neurofibromatosis
RARE ASSOCIATION OF DOWN SYNDROME WITH DANDY WALKER MALFORMATION
Dandy-Walker malformation in methylmalonic acidemia: a rare case report
Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy–Walker malformation
The Dandy-Walker syndrome
A fetopathological and clinical study of the Dandy-Walker malformation and a literature review
Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
Dandy Walker malformation variant associated with refractory seizures in a 6-month-old baby: case report
Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
Role of Transesophageal ECHO in Ventriculoperitoneal Shunt Surgery for a Child with Dandy–Walker Malformation: A Case Report
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions