E-LIB Suche - Ergebnisse für: Donnai Dian

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

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/..

11

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/..

12

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/..

13

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/..

14

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/..

15

Dhavendra Kumar (ed): Genomics and clinical medicine: Advis..:

Donnai, Dian
Human Genetics. 125 (2009) 3 - p. 329-330 , 2009

Link: https://doi.org/10.1007/..