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Co-authors
(169)
Beat Steinmann
19
Marianne Rohrbach
5
Andrea Superti-Furga
4
Marius E. Kraenzlin
4
Georg F. Eich
3
Journals
(19)
AMER J HUM GENET
5
AMER J MED GENET
5
FETAL PEDIATR PATHOL
2
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Authors
Cecilia Giunta
Cecilia Giunta,Universität Zürich,Genetics & Genealogy,Pathology,Evolutionary Studies
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Cecilia Giunta
Universität Zürich
Publications:
32
|
Citations:
185
Fields:
Genetics & Genealogy
,
Pathology
,
Evolutionary Studies
View FAQ about top research areas and Fields of study
Collaborated with
169 co-authors
from 1992 to 2011
|
Cited by
766 authors
Cumulative
Annual
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Publications
(32)
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Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
(
Citations: 6
)
Jutta Becker
,
Oliver Semler
,
Christian Gilissen
,
Yun Li
,
Cecilia Giunta
,
Carsten Bergmann
,
Marianne Rohrbach
,
Friederike Koerber
,
Katharina Zimmermann
,
Brunhilde Wirth
,
Eckhard Schoenau
,
Bernd Wollnik
http://academic.research.microsoft.com/io.ashx?type=5&id=49005389&selfId1=23667711&selfId2=0&maxNumber=12&query=
Journal:
American Journal of Human Genetics - AMER J HUM GENET
, vol. 88, no. 3, pp. 362-371, 2011
Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance
(
Citations: 1
)
Jill Urquhart
,
Nicoletta Zoppi
,
Richard Bonshek
,
Ioannis Tosounidis
,
Meyyammai Mohan
,
Colm Madden
,
Annabel Dodds
,
Siddharth Banka
,
Leon Au
,
Jill Clayton-Smith
,
Naz Khan
,
Meredith Wilson
Cecilia Giunta
http://academic.research.microsoft.com/io.ashx?type=5&id=49005459&selfId1=23667711&selfId2=0&maxNumber=12&query=
Journal:
American Journal of Human Genetics - AMER J HUM GENET
, vol. 88, no. 6, pp. 767-777, 2011
Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance
Jill Urquhart
,
Nicoletta Zoppi
,
Richard Bonshek
,
Ioannis Tosounidis
,
Meyyammai Mohan
,
Colm Madden
,
Annabel Dodds
,
Siddharth Banka
,
Leon Au
,
Jill Clayton-Smith
,
Naz Khan
,
Meredith Wilson
Cecilia Giunta
http://academic.research.microsoft.com/io.ashx?type=5&id=49005508&selfId1=23667711&selfId2=0&maxNumber=12&query=
Journal:
Alpha Omegan
, vol. 89, no. 2, pp. 346-346, 2011
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
Marianne Rohrbach
,
Anthony Vandersteen
,
Uluç Yiş
,
Gul Serdaroglu
,
Esra Ataman
,
Maya Chopra
,
Sixto Garcia
,
Kristi Jones
,
Ariana Kariminejad
,
Marius Kraenzlin
,
Carlo Marcelis
,
Matthias Baumgartner
Cecilia Giunta
http://academic.research.microsoft.com/io.ashx?type=5&id=48749105&selfId1=23667711&selfId2=0&maxNumber=12&query=
Journal:
Orphanet Journal of Rare Diseases - ORPHANET J RARE DIS
, vol. 6, no. 1, pp. 1-9, 2011
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities
Rita Kretz
,
Bita Bozorgmehr
,
Mohamad Hasan Kariminejad
,
Marianne Rohrbach
,
Ingrid Hausser
,
Alessandra Baumer
,
Matthias Baumgartner
,
Cecilia Giunta
,
Ariana Kariminejad
,
Johannes Häberle
Journal:
Journal of Inherited Metabolic Disease - J INHERIT METAB DIS
, vol. 34, no. 3, pp. 731-739, 2011
Sort by:
Citations
(185 times by 155 publications)
Prdm5 Regulates Collagen Gene Transcription by Association with RNA Polymerase II in Developing Bone
Giorgio Giacomo Galli
,
Kristian Honnens de Lichtenberg
,
Matteo Carrara
,
Wolfgang Hans
,
Manuela Wuelling
,
Bettina Mentz
,
Hinke Arnolda Multhaupt
,
Cathrine Kolster Fog
,
Klaus Thorleif Jensen
,
Juri Rappsilber
,
Andrea Vortkamp
,
Les Coulton
http://academic.research.microsoft.com/io.ashx?type=5&id=57409889&selfId1=23667711&selfId2=0&maxNumber=12&query=
Journal:
PLOS Genetics - PLOS GENET
, vol. 8, no. 5, 2012
Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus
Marta Czugala
,
Justyna A Karolak
,
Dorota M Nowak
,
Piotr Polakowski
,
Jose Pitarque
,
Andrea Molinari
,
Malgorzata Rydzanicz
,
Bassem A Bejjani
,
Beatrice Y J T Yue
,
Jacek P Szaflik
,
Marzena Gajecka
Journal:
European Journal of Human Genetics - EUR J HUMAN GENET
, vol. 20, no. 4, pp. 389-397, 2012
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta
Fleur S van Dijk
,
Peter H Byers
,
Raymond Dalgleish
,
Fransiska Malfait
,
Alessandra Maugeri
,
Marianne Rohrbach
,
Sofie Symoens
,
Erik A Sistermans
,
Gerard Pals
Journal:
European Journal of Human Genetics - EUR J HUMAN GENET
, vol. 20, no. 1, pp. 11-19, 2012
Traumatic subarachnoid hemorrhage and the COL3A1 gene: emergence of a potential causal link
(
Citations: 2
)
Michael J. Pickup
,
Michael S. Pollanen
Journal:
Forensic Science Medicine and Pathology - FORENSIC SCI MED PATHOL
, vol. 7, no. 2, pp. 192-197, 2011
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
Marianne Rohrbach
,
Anthony Vandersteen
,
Uluç Yiş
,
Gul Serdaroglu
,
Esra Ataman
,
Maya Chopra
,
Sixto Garcia
,
Kristi Jones
,
Ariana Kariminejad
,
Marius Kraenzlin
,
Carlo Marcelis
,
Matthias Baumgartner
Cecilia Giunta
http://academic.research.microsoft.com/io.ashx?type=5&id=48749105&selfId1=23667711&selfId2=0&maxNumber=12&query=
Journal:
Orphanet Journal of Rare Diseases - ORPHANET J RARE DIS
, vol. 6, no. 1, pp. 1-9, 2011
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