Weiter zum Inhalt
Toggle navigation
English
English
Favoritenliste (
0
)
(Voll)
Kontakt
Mein Konto
Abmeldung
Mein Konto
Suche
Erweiterte Suche
Suchverlauf
Struktursuche
Narrative Service
Drug Overviews
Info Guide
/vufind/Search/Results?lookfor=Person:%22Hao%2C+Shengju%22
/vufind/Search/Results?lookfor=Person:%22Hao%2C+Shengju%22
Search /vufind/Search2/Results?lookfor=Person:%22Hao%2C+Shengju%22
PubPharm (59)
1
Analysis of a patient with Retinitis pigmentosa due to a novel variant of IMPDH1 gene
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2024
von
Yang, R.
|
Hui, L.
|
Zhang, C.
| +3
Wird geladen...
2
Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2024
von
Zhang, Q.
|
Feng, X.
|
Wang, X.
| +8
Wird geladen...
3
Combined Amniotic Membrane and Self-Powered Electrical Stimulator Bioelectronic Dress Promotes Wound Healing
enthalten in:
ACS applied materials & interfaces
| 2024
von
Wang, Y.
|
Wu, H.
|
Xiao, A.
| +11
Wird geladen...
4
Result of a Pilot External Quality Assessment Scheme for Clinical Diagnosis of Inherited Metabolic Disorders in China
enthalten in:
Clinical laboratory
| 2024
von
Du, Y.
|
Jiang, P.
|
Yang, J.
| +28
Wird geladen...
5
Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2024
von
Zhang, Q.
|
Hao, S.
|
Hui, L.
| +8
Wird geladen...
6
Genetic analysis of eighteen patients from Gansu Province with Tetrahydrobiopterin deficiency
enthalten in:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
| 2024
von
Zhang, C.
|
Tian, X.
|
Wang, Y.
| +8
Wird geladen...
7
Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
Li, D.
|
Zhou, B.
|
Tian, X.
| +5
Wird geladen...
8
Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
Li, J.
|
Zhang, C.
|
Tian, X.
| +6
Wird geladen...
9
Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese family
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
Tian, X.
|
Zhang, X.
|
Zhang, Q.
| +8
Wird geladen...
10
Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature
enthalten in:
Molecular Genetics & Genomic Medicine
| 2024
von
Li, J.
|
Zhang, C.
|
Tian, X.
| +6
Wird geladen...
1
2
3
4
5
6
Nächster »
[6]
Filter & Sortierung
Treffer pro Seite
10
20
50
Sortieren
Relevanz
Neueste zuerst
Älteste zuerst
Verfasser
Zeitschriftentitel
Bibliothek
Standort (Printmedien)
Verwandte Substanzen
Verwandte Substanzen werden ermittelt...
Verwandte Erkrankungen/Symptome
Verwandte Erkrankungen/Symptome werden ermittelt...
Verwandte Gene
Verwandte Gene werden ermittelt...
Systematic Reviews
Clinical Studies
Patente
Covid-19/SARS-CoV-2
Exclude Systematic Reviews
Exclude Clinical Studies
Exclude Patents
Medienart
59
Aufsätze
57
E-Artikel
57
E-Ressourcen
2
Gedruckte Aufsätze
Zeitschriftentitel
15
Zhonghua yi xue yi chuan xue za zhi = Zhonghua ...
4
BMC medical genomics
4
Metabolic brain disease
4
Molecular Genetics & Genomic Medicine
4
Molecular genetics & genomic medicine
3
Analytical and bioanalytical chemistry
3
Frontiers in genetics
3
Journal of Clinical Laboratory Analysis
3
Journal of clinical laboratory analysis
2
Human genomics
2
Human mutation
2
Orphanet journal of rare diseases
1
ACS applied materials & interfaces
1
ACS omega
1
Analytical & bioanalytical chemistry
1
Annals of clinical and laboratory science
1
Clinical laboratory
1
Current eye research
1
Frontiers in molecular biosciences
1
ResearchSquare.com
Alle anzeigen ...
weniger ...
Thema
38
Journal Article
12
Case Reports
11
English Abstract
9
Research Support, Non-U.S. Gov't
8
Phenylketonuria
6
Sanger sequencing
5
EC 1.14.16.1
5
Phenylalanine Hydroxylase
4
Cell-free fetal DNA
4
Droplet digital PCR
4
Gap-PCR
4
Gene variant
4
MLPA
4
Non-invasive prenatal testing
4
PKU
4
Phenylalanine hydroxylase
3
PAH
3
RNA splicing
3
whole-exome sequencing
2
Deep intronic variant
Alle anzeigen ...
weniger ...
Erscheinungszeitraum
46
2020-
13
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
36
Englisch
15
Chinesisch
Haven't found what you're looking for?
Wird geladen...