Showing
1 - 6
results of
6
Skip to content
VuFind
Log in
Library Catalogue Plus
Library
Subject guides
Databases
Referencing
Catalogue
Articles Plus
Keyword
Title
Author
Subject
Find
Advanced Search
Search Results - Ghughunishvili, Mariam
Search Results - Ghughunishvili, Mariam
Showing
1 - 6
results of
6
Refine Results
Sort
Relevance
Date Descending
Author
Title
1
Loading…
Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report
by
Tkemaladze, Tinatin
,
Kvaratskhelia, Eka
,
Ghughunishvili, Mariam
,
Lentze, Michael J.
,
Abzianidze, Elene
,
Skrahina, Volha
,
Rolfs, Arndt
Published in
Respiratory medicine case reports
Get full text
Items that this one cites
Article
Save to List
Saved in:
2
Loading…
Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
by
Cesarato, Nicole
,
Wehner, Maria
,
Ghughunishvili, Mariam
,
Schmidt, Axel
,
Axt, Daisy
,
Thiele, Holger
,
Lentze, Michael J.
,
Has, Cristina
,
Geyer, Matthias
,
Basmanav, Fitnat Buket
,
Betz, Regina C.
Published in
American journal of medical genetics. Part A
Get full text
Items that this one cites
Items that cite this one
Article
Save to List
Saved in:
3
Loading…
Additional evidence on the phenotype produced by combination of 1677delTA alleles and their relevance in causing CFTR-related disease
by
Tinatin Tkemaladze
,
Eka Kvaratskhelia
,
Mariam Ghughunishvili
,
Irakli Rtskhiladze
,
Zurab Zaalishvili
,
Nata Nakaidze
,
Michael J Lentze
,
Elene Abzianidze
,
Volha Skrahina
,
Arndt Rolfs
Published in
SAGE open medical case reports
Get full text
Article
Save to List
Saved in:
4
Loading…
Additional evidence on the phenotype produced by combination of CFTR 1677delTA alleles and their relevance in causing CFTR-related disease
by
Tkemaladze, Tinatin
,
Kvaratskhelia, Eka
,
Ghughunishvili, Mariam
,
Rtskhiladze, Irakli
,
Zaalishvili, Zurab
,
Nakaidze, Nata
,
Lentze, Michael J
,
Abzianidze, Elene
,
Skrahina, Volha
,
Rolfs, Arndt
Published in
SAGE open medical case reports
Get full text
Items that this one cites
Article
Save to List
Saved in:
5
Loading…
Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report
by
Tkemaladze, Tinatin
,
Kvaratskhelia, Eka
,
Ghughunishvili, Mariam
,
Lentze, Michael J
,
Abzianidze, Elene
,
Skrahina, Volha
,
Rolfs, Arndt
Published in
Respiratory medicine case reports
Get full text
Report
Save to List
Saved in:
6
Loading…
Additional evidence on the phenotype produced by combination of CFTR 1677delTA alleles and their relevance in causing CFTR-related disease
by
Tkemaladze, Tinatin
,
Kvaratskhelia, Eka
,
Ghughunishvili, Mariam
,
Rtskhiladze, Irakli
,
Zaalishvili, Zurab
,
Nakaidze, Nata
,
Lentze, Michael J
,
Abzianidze, Elene
,
Skrahina, Volha
,
Rolfs, Arndt
Published in
SAGE open medical case reports
Get full text
Report
Save to List
Saved in:
Search Tools:
RSS Feed
Email Search
Save Search
Back
Refine Results
Page will reload when a filter is selected or excluded.
Limit To
Peer Reviewed
4 results
4
Full Text
6 results
6
Format
Articles
4 results
4
Reports
2 results
2
Journal Title
Sage Open Medical Case Reports
2 results
2
American Journal Of Medical Genetics. Part A
1 results
1
Respiratory Medicine Case Reports
1 results
1
Subjects
1677Delta
2 results
2
Case Report
2 results
2
Cystic Fibrosis
2 results
2
Cystic Fibrosis Transmembrane Conductance Regulator
2 results
2
L997F
2 results
2
Life Sciences & Biomedicine
2 results
2
Science & Technology
2 results
2
Adolescent
1 results
1
Alopecia - Complications
1 results
1
Alopecia - Genetics
1 results
1
Alopecia - Pathology
1 results
1
Child
1 results
1
Child, Preschool
1 results
1
Congenital Alopecia
1 results
1
Female
1 results
1
General & Internal Medicine
1 results
1
Genetic Predisposition To Disease
1 results
1
Genetics & Heredity
1 results
1
Genotype & Phenotype
1 results
1
Humans
1 results
1
Year of Publication
From:
To:
Source
Doaj Directory Of Open Access Journals
5 results
5
Road: Directory Of Open Access Scholarly Resources
5 results
5
Pmc (Pubmed Central)
5 results
5
Sage Journals Gold Open Access 2024
3 results
3
Ezb-Free-00999 Freely Available Ezb Journals
3 results
3
Publicly Available Content (Proquest)
3 results
3
Bacon - Elsevier - Global Sciencedirect-Openaccess
2 results
2
Sciencedirect (Elsevier)
2 results
2
Ingentaconnect Journals
2 results
2
Access Via Wiley Online Library
1 results
1
Wiley Online Library (Open Access Collection)
1 results
1
Wiley:jisc Collections:wiley Read And Publish Open Access 2024-2025 (Reading List)
1 results
1