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Donnai, Dian
172
results:
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Format
Online (171)
Print (1)
Mediatypes
Books (1)
E-Books (4)
Articles (Online) (83)
OpenAccess-fulltext (84)
Languages
german (4)
english (158)
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?
1
Novel pathogenic variants and quantitative phenotypic analy..:
Zhang, Chaofan
;
Jolly, Angad
;
Shayota, Brian J.
...
Human Genetics and Genomics Advances. 3 (2022) 1 - p. 100074 , 2022
Link:
https://doi.org/10.1016/..
?
2
The rise of point-of-care genetics: how the SARS-CoV-2 pand..:
McDermott, John H.
;
Burn, John
;
Donnai, Dian
.
European Journal of Human Genetics. 29 (2021) 6 - p. 891-893 , 2021
Link:
https://doi.org/10.1038/..
?
3
Expanding Clinical Presentations Due to Variations in THOC2..:
Kumar, Raman
;
Palmer, Elizabeth
;
Gardner, Alison E.
...
Frontiers in Molecular Neuroscience. 13 (2020) - p. , 2020
Link:
https://doi.org/10.3389/..
?
4
Erratum: Corrigendum: NANS-mediated synthesis of sialic aci..:
van Karnebeek, Clara D M
;
Bonafé, Luisa
;
Wen, Xiao-Yan
...
Nature Genetics. 49 (2017) 6 - p. 969-969 , 2017
Link:
https://doi.org/10.1038/..
?
5
Dysmorphology and the ESHG:
Donnai, Dian
European Journal of Human Genetics. 25 (2017) S2 - p. S33-S34 , 2017
Link:
https://doi.org/10.1038/..
?
6
NANS-mediated synthesis of sialic acid is required for brai..:
van Karnebeek, Clara D M
;
Bonafé, Luisa
;
Wen, Xiao-Yan
...
Nature Genetics. 48 (2016) 7 - p. 777-784 , 2016
Link:
https://doi.org/10.1038/..
?
7
Oculo-auriculo-vertebral spectrum: Clinical and molecular a..:
Beleza-Meireles, Ana
;
Hart, Rachel
;
Clayton-Smith, Jill
...
European Journal of Medical Genetics. 58 (2015) 9 - p. 455-465 , 2015
Link:
https://doi.org/10.1016/..
?
8
What can be offered to couples at (possibly) increased gene..:
Read, Andrew P.
;
Donnai, Dian
Journal of Community Genetics. 3 (2012) 3 - p. 167-174 , 2012
Link:
https://doi.org/10.1007/..
?
9
Kohlschütter-Tönz Syndrome: Mutations inROGDIand Evidence o..:
Tucci, Arianna
;
Kara, Eleanna
;
Schossig, Anna
...
Human Mutation. 34 (2012) 2 - p. 296-300 , 2012
Link:
https://doi.org/10.1002/..
?
10
Diploid/triploid mosaicism: A rare event or an under-diagno..:
Boonen, Susanne E.
;
Hoffmann, Anne Lisbeth
;
Donnai, Dian
..
European Journal of Medical Genetics. 54 (2011) 3 - p. 374-375 , 2011
Link:
https://doi.org/10.1016/..
?
11
Pierpont syndrome: A collaborative study:
Wright, Emma M.M. Burkitt
;
Suri, Mohnish
;
White, Susan M.
...
American Journal of Medical Genetics Part A. 155 (2011) 9 - p. 2203-2211 , 2011
Link:
https://doi.org/10.1002/..
?
12
Molecular analysis expands the spectrum of phenotypes assoc..:
Johnston, Jennifer J.
;
Sapp, Julie C.
;
Turner, Joyce T.
...
Human Mutation. 31 (2010) 10 - p. 1142-1154 , 2010
Link:
https://doi.org/10.1002/..
?
13
DYSCERNE: developing clinical management guidelines for sel..:
Griffiths, Pam
;
Strong, Kate
;
Gardner, Sara
...
Orphanet Journal of Rare Diseases. 5 (2010) S1 - p. , 2010
Link:
https://doi.org/10.1186/..
?
14
Expanding the clinical spectrum of SLC29A3 gene defects:
Spiegel, Ronen
;
Cliffe, Simon T.
;
Buckley, Michael F.
...
European Journal of Medical Genetics. 53 (2010) 5 - p. 309-313 , 2010
Link:
https://doi.org/10.1016/..
?
15
Advances in dysmorphology: from diagnosis to treatment:
Donnai, Dian
Clinical Medicine. 9 (2009) 2 - p. 154-155 , 2009
Link:
https://doi.org/10.7861/..
1-15
Related subjects
Angewandte Humangenetik