Erscheinungsjahr
Format
Lizenz
Sprache
-
The categories of cutaneous mosaicism: A proposed classification
Wiley | 2016|Schlagwörter: superimposed segmental mosaicism of polygenic skin disorders, functional autosomal mosaicism, type 1 segmental mosaicism of autosomal dominant skin disorders, single point mosaicism, revertant mosaicism, segmental mosaicism of lethal autosomal mutations, epigenetic mosaicism, patchy mosaicism without midline separation, type 2 segmental mosaicism of autosomal dominant skin disorders, disseminated mosaicism, nonsegmental mosaicism, functional X‐chromosome mosaicism, cutaneous mosaicism -
mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review
Wiley | 2018|Schlagwörter: somatic mosaicism, gonadal mosaicism, germline mosaicism, constitutive mosaicism -
The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome
Wiley | 2022|Schlagwörter: methylation mosaicism, size mosaicism -
High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV
Freier ZugriffWiley | 2022|Schlagwörter: germline mosaicism, parental mosaicism, somatic mosaicism -
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature
Wiley | 2019|Schlagwörter: somatic mosaicism, cutaneous pigmentary mosaicism -
Bohring‐Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother
Wiley | 2018|Schlagwörter: somatic mosaicism, germline mosaicism -
Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism
Wiley | 2015|Schlagwörter: somatic mosaicism, germline mosaicism -
Somatic mosaicism in adult‐onset TNF receptor‐associated periodic syndrome (TRAPS)
Freier ZugriffWiley | 2019|Schlagwörter: mosaicism -
Trisomy 4 mosaicism: Delineation of the phenotype
Wiley | 2016|Schlagwörter: mosaicism, trisomy 4 mosaicism -
Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case
Freier ZugriffThieme Verlag | 2020|Schlagwörter: partial mosaicism, mosaicism -
Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome
Wiley | 2019|Schlagwörter: somatic mosaicism, gonadal mosaicism -
Detection of low level sex chromosome mosaicism in Ullrich–Turner syndrome patients
Wiley | 2005|Schlagwörter: Ullrich–Turner syndrome mosaicism, sex chromosome mosaicism, XY mosaicism -
Somatic mosaicism and the phenotypic expression of COL2A1 mutations
Wiley | 2012|Schlagwörter: germline mosaicism, somatic mosaicism -
First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection
Wiley | 2021|Schlagwörter: mosaicism -
Germline mosaicism in Cornelia de Lange syndrome
Wiley | 2012|Schlagwörter: mosaicism, germline mosaicism -
LEOPARD syndrome with partly normal skin and sex chromosome mosaicism
Wiley | 2007|Schlagwörter: mosaicism, sex chromosome mosaicism, revertant mosaicism -
Clinical utility of expanded NIPT for chromosomal abnormalities and etiology analysis of cytogenetic discrepancies cases
Online Contents | 2022|Schlagwörter: Placental mosaicism, Fetal mosaicism -
Male factor infertility impacts the rate of mosaic blastocysts in cycles of preimplantation genetic testing for aneuploidy
Online Contents | 2019|Schlagwörter: Mosaicism -
First evidence of viable progeny from three interspecific parents in sturgeon
Online Contents | 2018|Schlagwörter: Mosaicism
Meine Suche schicken an (beta)
Schicken Sie ihre Suchanfrage (Suchterm ohne Filter) an andere Datenbanken, Portale und Kataloge, um ggf. weitere interessante Treffer zu finden:
Dimensions ist eine Datenbank für Abstracts und Zitate, die Informationen zu Forschungsförderungen mit daraus resultierenden Veröffentlichungen, Studien und Patenten verknüpft.
Im TIB AV-Portal können audiovisuelle Medien aus Wissenschaft und Lehre recherchiert und eigene wissenschaftliche Videos publiziert werden.
Im FID move kann nach fachspezifischer Literatur, Forschungsdaten und weitere Informationen aus der Mobilitäts- und Verkehrsforschung gesucht werden.
Der Open Research Knowledge Graph liefert strukturiert beschriebene Forschungsinhalte und macht diese vergleichbar.
Frei zugänglicher Ausschnitt der Verbunddatenbank K10plus des GBV und des SWB mit für die Fernleihe und Direktlieferdienste relevanten Materialien.