A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1755-8794
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient ; volume:15 ; number:1 ; day:21 ; month:10 ; year:2022 ; pages:1-8 ; date:12.2022
BMC medical genomics ; 15, Heft 1 (21.10.2022), 1-8, 12.2022
- Urheber
-
Zuo, Bin
Xu, Hongen
Pan, Zhaoyu
Mao, Lu
Feng, Haifeng
Zeng, Beiping
Tang, Wenxue
Lu, Wei
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1186/s12920-022-01374-x
- URN
-
urn:nbn:de:101:1-2023010809011582568700
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:23 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
- Zuo, Bin
- Xu, Hongen
- Pan, Zhaoyu
- Mao, Lu
- Feng, Haifeng
- Zeng, Beiping
- Tang, Wenxue
- Lu, Wei
- SpringerLink (Online service)
Ähnliche Objekte (12)
An graph-based approach for querying structural information of business processes
Anesthetic management of a patient with mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome: a case report
Long-term clinical, immunologic and virologic impact of glucocorticoids on the chronic phase of HIV infection
A 30-year journey of trial and error towards a tolerogenic AIDS vaccine
Evidence of a tolerogenic vaccine against AIDS in the Chinese macaque prefigures a potential human vaccine
Generative Modeling, Design, and Analysis of Spider Silk Protein Sequences for Enhanced Mechanical Properties
Direct measurements of interfacial adhesion in 2D materials and van der Waals heterostructures in ambient air
Efficiency of health resource utilisation in primary-level maternal and child health hospitals in Shanxi Province, China: a bootstrapping data envelopment analysis and truncated regression approach
Adaptive minirhizotron for pepper roots observation and its installation based on root system architecture traits
Residual Stresses in Cold‐Formed Square Hollow Sections of High Strength Steel
Energy landscape underlying spontaneous insertion and folding of an alpha-helical transmembrane protein into a bilayer
Formation of Self-Connected Si0.8Ge0.2 Lateral Nanowires and Pyramids on Rib-Patterned Si(1 1 10) Substrate
An graph-based approach for querying structural information of business processes
Anesthetic management of a patient with mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome: a case report
Long-term clinical, immunologic and virologic impact of glucocorticoids on the chronic phase of HIV infection
A 30-year journey of trial and error towards a tolerogenic AIDS vaccine
Evidence of a tolerogenic vaccine against AIDS in the Chinese macaque prefigures a potential human vaccine
Generative Modeling, Design, and Analysis of Spider Silk Protein Sequences for Enhanced Mechanical Properties
Direct measurements of interfacial adhesion in 2D materials and van der Waals heterostructures in ambient air
Efficiency of health resource utilisation in primary-level maternal and child health hospitals in Shanxi Province, China: a bootstrapping data envelopment analysis and truncated regression approach
Adaptive minirhizotron for pepper roots observation and its installation based on root system architecture traits
Residual Stresses in Cold‐Formed Square Hollow Sections of High Strength Steel
Energy landscape underlying spontaneous insertion and folding of an alpha-helical transmembrane protein into a bilayer
Formation of Self-Connected Si0.8Ge0.2 Lateral Nanowires and Pyramids on Rib-Patterned Si(1 1 10) Substrate
An graph-based approach for querying structural information of business processes
Anesthetic management of a patient with mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome: a case report
Long-term clinical, immunologic and virologic impact of glucocorticoids on the chronic phase of HIV infection
A 30-year journey of trial and error towards a tolerogenic AIDS vaccine
Evidence of a tolerogenic vaccine against AIDS in the Chinese macaque prefigures a potential human vaccine
Generative Modeling, Design, and Analysis of Spider Silk Protein Sequences for Enhanced Mechanical Properties
Direct measurements of interfacial adhesion in 2D materials and van der Waals heterostructures in ambient air
Efficiency of health resource utilisation in primary-level maternal and child health hospitals in Shanxi Province, China: a bootstrapping data envelopment analysis and truncated regression approach
Adaptive minirhizotron for pepper roots observation and its installation based on root system architecture traits
Residual Stresses in Cold‐Formed Square Hollow Sections of High Strength Steel
Energy landscape underlying spontaneous insertion and folding of an alpha-helical transmembrane protein into a bilayer