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 - Bedeschi, M.F.
Search Results - Bedeschi, M.F.
Showing
1 - 6
results of
6
Refine Results
Sort
Relevance
Date Descending
Author
Title
1
Loading…
Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta
by
Lindert, U.
,
Gnoli, M.
,
Maioli, M.
,
Bedeschi, M.F.
,
Sangiorgi, L.
,
Rohrbach, M.
,
Giunta, C.
Published in
Calcified tissue international
Get full text
Items that this one cites
Items that cite this one
Article
Save to List
Saved in:
2
Loading…
Fetal growth patterns in Beckwith-Wiedemann syndrome
by
Mussa, A.
,
Russo, S.
,
de Crescenzo, A.
,
Freschi, A.
,
Calzari, L.
,
Maitz, S.
,
Macchiaiolo, M.
,
Molinatto, C.
,
Baldassarre, G.
,
Mariani, M.
,
Tarani, L.
,
Bedeschi, M.F.
,
Milani, D.
,
Melis, D.
,
Bartuli, A.
,
Cubellis, M.V.
,
Selicorni, A.
,
Silengo, M.C.
,
Larizza, L.
,
Riccio, A.
,
Ferrero, G.B.
Published in
Clinical genetics
Get full text
Items that this one cites
Items that cite this one
Article
Save to List
Saved in:
3
Loading…
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations
by
Villa, R.
,
Fergnani, V.G.C.
,
Silipigni, R.
,
Guerneri, S.
,
Cinnante, C.
,
Guala, A.
,
Danesino, C.
,
Scola, E.
,
Conte, G.
,
Fumagalli, M.
,
Gangi, S.
,
Colombo, L.
,
Picciolini, O.
,
Ajmone, P.F.
,
Accogli, A.
,
Madia, F.
,
Tassano, E.
,
Scala, M.
,
Capra, V.
,
Srour, M.
,
Spaccini, L.
,
Righini, A.
,
Greco, D.
,
Castiglia, L.
,
Romano, C.
,
Bedeschi, M.F.
Published in
European journal of paediatric neurology
Get full text
Items that this one cites
Items that cite this one
Article
Save to List
Saved in:
4
Loading…
Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome
by
Bedeschi, M.F.
,
Colombo, L.
,
Mari, F.
,
Hofmann, K.
,
Rauch, A.
,
Gentilin, B.
,
Renieri, A.
,
Clerici, D.
Published in
Molecular syndromology
Get full text
Items that this one cites
Items that cite this one
Article
Save to List
Saved in:
5
Loading…
Cumming syndrome with heterotaxia, campomelia and absent uterus/fallopian tubes
by
Bedeschi, M.F.
,
Spaccini, L.
,
Rizzuti, T.
,
Coviello, D.A.
,
Castorina, P.
,
Natacci, F.
,
Lalatta, F.
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:
6
Loading…
ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing
by
Moncini, S.
,
Bedeschi, M.F.
,
Castronovo, P.
,
Crippa, M.
,
Calvello, M.
,
Garghentino, R.R.
,
Scuvera, G.
,
Finelli, P.
,
Venturin, M.
Published in
Meta Gene
Get full text
Items that this one cites
Items that cite this one
Article
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
5 results
5
Full Text
6 results
6
Format
Articles
6 results
6
Journal Title
American Journal Of Medical Genetics
1 results
1
American Journal Of Medical Genetics. Part A
1 results
1
Calcified Tissue International
1 results
1
Clinical Genetics
1 results
1
European Journal Of Paediatric Neurology
1 results
1
Meta Gene
1 results
1
Molecular Syndromology
1 results
1
Subjects
Life Sciences & Biomedicine
6 results
6
Science & Technology
6 results
6
Genetics & Heredity
4 results
4
Humans
4 results
4
Female
2 results
2
Genotype
2 results
2
Infant, Newborn
2 results
2
Mutation
2 results
2
Phenotype
2 results
2
5P Deletions
1 results
1
Abnormalities, Multiple - Genetics
1 results
1
Abnormalities, Multiple - Pathology
1 results
1
Abortion, Eugenic
1 results
1
Adolescent
1 results
1
Adult
1 results
1
Amino Acid Substitution
1 results
1
Anthropometry
1 results
1
Arachnocamptodactyly
1 results
1
Atr-X Syndrome
1 results
1
Atrx Mutation
1 results
1
Year of Publication
From:
To:
Source
Science Citation Index Expanded (Web Of Science)
3 results
3
Wiley Online Library Backfiles Complete
2 results
2
Wiley Online Library Journals
2 results
2
Wiley
2 results
2
Elsevier Sciencedirect Journals
2 results
2
Sciencedirect Journals
2 results
2
Ezb Electronic Journals Library
2 results
2
Pubmed Central
2 results
2
Bacon - Elsevier - Global Sciencedirect-Openaccess
1 results
1
Springer Link
1 results
1
Springer Online Journal Archives
1 results
1
Karger Journals Complete
1 results
1
Springer Nature - Connect Here First To Enable Access
1 results
1