A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
1 Online-Ressource.
- Language
-
Englisch
- Bibliographic citation
-
A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review ; volume:24 ; number:1 ; day:10 ; month:2 ; year:2024 ; pages:1-8 ; date:12.2024
BMC pediatrics ; 24, Heft 1 (10.2.2024), 1-8, 12.2024
- Creator
-
Zhang, Zhenkun
Bie, Xiaofan
Chen, Zhehui
Liu, Jing
Xie, Zhenhua
Li, Xian
Xiao, Mengjun
Zhang, Qiang
Zhang, Yaodong
Yang, Yanling
Li, Dongxiao
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1186/s12887-023-04442-y
- URN
-
urn:nbn:de:101:1-2404190743293.675129917283
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:49 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
- Zhang, Zhenkun
- Bie, Xiaofan
- Chen, Zhehui
- Liu, Jing
- Xie, Zhenhua
- Li, Xian
- Xiao, Mengjun
- Zhang, Qiang
- Zhang, Yaodong
- Yang, Yanling
- Li, Dongxiao
- SpringerLink (Online service)
Other Objects (12)
Endoscope-assisted deliverance of a snare into the deep colon for endoscopic submucosal dissection
An optimized solution to the course scheduling problem in universities under an improved genetic algorithm
A novel through-the-scope twin clip traction-assisted endoscopic submucosal dissection in an in vitro pig stomach model
Systematic studies of protein immobilization by surface plasmon field-enhanced fluorescence spectroscopy
EXISTENCE AND GLOBAL EXPONENTIAL STABILITY OF PERIODIC SOLUTION OF HIGH-ORDER COHEN-GROSSBERG NEURAL NETWORK WITH IMPULSES
A novel endoscopic clip for closing a large perforating wound in a patient undergoing endoscopic full-thickness resection
Fluorescence chemosensor containing 4-methyl-7-coumarinyloxy, acetylhydrazono and N -phenylaza-15-crown-5 moieties for K + and Ba 2+ ions
A novel endoscopic clip for closing a large perforating wound in a patient undergoing endoscopic full-thickness resection
Highlights of the 2018 Chinese hypertension guidelines
Research on teaching quality evaluation of higher vocational architecture majors based on enterprise platform with spherical fuzzy MAGDM
Genomics‐Guided Efficient Identification of 2,5‐Diketopiperazine Derivatives from Actinobacteria
Algeria’s Strategic Position and Its Implications for the Development of China- Algeria Relations
Endoscope-assisted deliverance of a snare into the deep colon for endoscopic submucosal dissection
An optimized solution to the course scheduling problem in universities under an improved genetic algorithm
A novel through-the-scope twin clip traction-assisted endoscopic submucosal dissection in an in vitro pig stomach model
Systematic studies of protein immobilization by surface plasmon field-enhanced fluorescence spectroscopy
EXISTENCE AND GLOBAL EXPONENTIAL STABILITY OF PERIODIC SOLUTION OF HIGH-ORDER COHEN-GROSSBERG NEURAL NETWORK WITH IMPULSES
A novel endoscopic clip for closing a large perforating wound in a patient undergoing endoscopic full-thickness resection
Fluorescence chemosensor containing 4-methyl-7-coumarinyloxy, acetylhydrazono and N -phenylaza-15-crown-5 moieties for K + and Ba 2+ ions
A novel endoscopic clip for closing a large perforating wound in a patient undergoing endoscopic full-thickness resection
Highlights of the 2018 Chinese hypertension guidelines
Research on teaching quality evaluation of higher vocational architecture majors based on enterprise platform with spherical fuzzy MAGDM
Genomics‐Guided Efficient Identification of 2,5‐Diketopiperazine Derivatives from Actinobacteria
Algeria’s Strategic Position and Its Implications for the Development of China- Algeria Relations
Endoscope-assisted deliverance of a snare into the deep colon for endoscopic submucosal dissection
An optimized solution to the course scheduling problem in universities under an improved genetic algorithm
A novel through-the-scope twin clip traction-assisted endoscopic submucosal dissection in an in vitro pig stomach model
Systematic studies of protein immobilization by surface plasmon field-enhanced fluorescence spectroscopy
EXISTENCE AND GLOBAL EXPONENTIAL STABILITY OF PERIODIC SOLUTION OF HIGH-ORDER COHEN-GROSSBERG NEURAL NETWORK WITH IMPULSES
A novel endoscopic clip for closing a large perforating wound in a patient undergoing endoscopic full-thickness resection
Fluorescence chemosensor containing 4-methyl-7-coumarinyloxy, acetylhydrazono and N -phenylaza-15-crown-5 moieties for K + and Ba 2+ ions
A novel endoscopic clip for closing a large perforating wound in a patient undergoing endoscopic full-thickness resection
Highlights of the 2018 Chinese hypertension guidelines
Research on teaching quality evaluation of higher vocational architecture majors based on enterprise platform with spherical fuzzy MAGDM
Genomics‐Guided Efficient Identification of 2,5‐Diketopiperazine Derivatives from Actinobacteria