Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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1 Online-Ressource.
- Language
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Englisch
- Bibliographic citation
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Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance ; volume:17 ; number:1 ; day:2 ; month:3 ; year:2023 ; pages:1-14 ; date:12.2023
Human genomics ; 17, Heft 1 (2.3.2023), 1-14, 12.2023
- Creator
-
Jacquemin, Valerie
Versbraegen, Nassim
Duerinckx, Sarah
Massart, Annick
Soblet, Julie
Perazzolo, Camille
Deconinck, Nicolas
Brischoux-Boucher, Elise
De Leener, Anne
Revencu, Nicole
Janssens, Sandra
Moorgat, Stèphanie
Blaumeiser, Bettina
Avela, Kristiina
Touraine, Renaud
Abou Jaoude, Imad
Keymolen, Kathelijn
Saugier-Veber, Pascale
Lenaerts, Tom
Abramowicz, Marc
Pirson, Isabelle
- Contributor
-
SpringerLink (Online service)
- DOI
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10.1186/s40246-023-00464-w
- URN
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urn:nbn:de:101:1-2023121813562122622029
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:37 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
- Jacquemin, Valerie
- Versbraegen, Nassim
- Duerinckx, Sarah
- Massart, Annick
- Soblet, Julie
- Perazzolo, Camille
- Deconinck, Nicolas
- Brischoux-Boucher, Elise
- De Leener, Anne
- Revencu, Nicole
- Janssens, Sandra
- Moorgat, Stèphanie
- Blaumeiser, Bettina
- Avela, Kristiina
- Touraine, Renaud
- Abou Jaoude, Imad
- Keymolen, Kathelijn
- Saugier-Veber, Pascale
- Lenaerts, Tom
- Abramowicz, Marc
- Pirson, Isabelle
- SpringerLink (Online service)
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Ependymal ciliary motion and their role in congenital hydrocephalus
Online Mendelian Inheritance in Animals (OMIA): a genetic resource for vertebrate animals
trioPhaser: using Mendelian inheritance logic to improve genomic phasing of trios
Prenatal diagnosis of L1CAM gene mutations in X-linked hydrocephalus
Stochastic models of Mendelian and reverse transcriptional inheritance in state-structured cancer populations
Aquaporin-4 expression in the cerebrospinal fluid in congenital human hydrocephalus
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Mendelian inheritance of trimodal CpG methylation sites suggests distal cis-acting genetic effects
Using Mendelian inheritance errors as quality control criteria in whole genome sequencing data set
CRISPR-based gene drives generate super-Mendelian inheritance in the disease vector Culex quinquefasciatus
Heterozygous FOXJ1 Mutations Cause Incomplete Ependymal Cell Differentiation and Communicating Hydrocephalus
Beyond Mendelian Inheritance: Genetic Buffering and Phenotype Variability
Ependymal ciliary motion and their role in congenital hydrocephalus
Online Mendelian Inheritance in Animals (OMIA): a genetic resource for vertebrate animals
trioPhaser: using Mendelian inheritance logic to improve genomic phasing of trios
Prenatal diagnosis of L1CAM gene mutations in X-linked hydrocephalus
Stochastic models of Mendelian and reverse transcriptional inheritance in state-structured cancer populations
Aquaporin-4 expression in the cerebrospinal fluid in congenital human hydrocephalus
Congenital hydrocephalus in a trisomy 9p gained child: a case report
Mendelian inheritance of trimodal CpG methylation sites suggests distal cis-acting genetic effects
Using Mendelian inheritance errors as quality control criteria in whole genome sequencing data set
CRISPR-based gene drives generate super-Mendelian inheritance in the disease vector Culex quinquefasciatus