Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1364-6753
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child ; volume:18 ; number:1 ; day:6 ; month:1 ; year:2017 ; pages:49-55 ; date:1.2017
Neurogenetics ; 18, Heft 1 (6.1.2017), 49-55, 1.2017
- Schlagwort
-
Hautkrankheit
Dermatologie
- Urheber
-
Schon, Katherine
- Beteiligte Personen und Organisationen
-
Spasic-Boskovic, Olivera
Brugger, Kim
Graves, Tracey D.
Abbs, Stephen
Park, Soo-Mi
Ambegaonkar, Gautam
Armstrong, Ruth
SpringerLink (Online service)
- DOI
-
10.1007/s10048-016-0504-2
- URN
-
urn:nbn:de:1111-201702288498
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:58 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Schon, Katherine
- Spasic-Boskovic, Olivera
- Brugger, Kim
- Graves, Tracey D.
- Abbs, Stephen
- Park, Soo-Mi
- Ambegaonkar, Gautam
- Armstrong, Ruth
- SpringerLink (Online service)
Ähnliche Objekte (12)
Feeling severely affected by Multiple Sclerosis : what does this mean?
Skeletal muscle transcriptome is affected by age in severely burned mice
Mitochondrial function and intracellular distribution is severely affected in in vitro cultured mouse embryos
Extraction of first permanent molars severely affected by molar incisor hypomineralisation: a retrospective audit
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing
Somatic mosaicism in the diseased brain
Establishment of clonal myogenic cell lines from severely affected dystrophic muscles - CDK4 maintains the myogenic population
Author Correction: Mitochondrial function and intracellular distribution is severely affected in in vitro cultured mouse embryos
Characteristics and patient-reported outcomes associated with dropout in severely affected oncological patients: an exploratory study
Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements
Superimposed mosaicism in cutaneous sarcoidosis: a hypothesis
Environment-driven somatic mosaicism in brain disorders
Feeling severely affected by Multiple Sclerosis : what does this mean?
Skeletal muscle transcriptome is affected by age in severely burned mice
Mitochondrial function and intracellular distribution is severely affected in in vitro cultured mouse embryos
Extraction of first permanent molars severely affected by molar incisor hypomineralisation: a retrospective audit
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing
Somatic mosaicism in the diseased brain
Establishment of clonal myogenic cell lines from severely affected dystrophic muscles - CDK4 maintains the myogenic population
Author Correction: Mitochondrial function and intracellular distribution is severely affected in in vitro cultured mouse embryos
Characteristics and patient-reported outcomes associated with dropout in severely affected oncological patients: an exploratory study
Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements
Superimposed mosaicism in cutaneous sarcoidosis: a hypothesis
Environment-driven somatic mosaicism in brain disorders
Feeling severely affected by Multiple Sclerosis : what does this mean?
Skeletal muscle transcriptome is affected by age in severely burned mice
Mitochondrial function and intracellular distribution is severely affected in in vitro cultured mouse embryos
Extraction of first permanent molars severely affected by molar incisor hypomineralisation: a retrospective audit
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing
Somatic mosaicism in the diseased brain
Establishment of clonal myogenic cell lines from severely affected dystrophic muscles - CDK4 maintains the myogenic population
Author Correction: Mitochondrial function and intracellular distribution is severely affected in in vitro cultured mouse embryos
Characteristics and patient-reported outcomes associated with dropout in severely affected oncological patients: an exploratory study
Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements
Superimposed mosaicism in cutaneous sarcoidosis: a hypothesis