E-LIB Suche - Ergebnisse für: Mackay, Deborah J G

1

A patient with multilocus imprinting disturbance involving ..:

Grosvenor, Sarah E ; Davies, Justin H ; Lever, Margaret...
https://eprints.soton.ac.uk/455982/1/grosvenor_R1.pdf. , 2022

Link: https://eprints.soton.ac..

2

Whole-genome analysis as a diagnostic tool for patients ref..:

Alhendi, Ahmed S.N ; Lim, Derek ; Mckee, Shane...
https://eprints.soton.ac.uk/449912/1/alhendi21accepted_ms.pdf. , 2021

Link: https://eprints.soton.ac..

3

Phenotype of genetically confirmed Silver-Russell syndrome ..:

Lokulo-Sodipe, Oluwakemi ; Ballard, Lisa ; Child, Jenny...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525777/. , 2020

Link: http://www.ncbi.nlm.nih...

4

Growth disrupting mutations in epigenetic regulatory molecu..:

Jeffries, Aaron R ; Maroofian, Reza ; Salter, Claire G...
Jeffries, A. R., Maroofian, R., Salter, C. G., Chioza, B. A., Cross, H. E., Patton, M. A., . & Aksglæde, L. (2019). Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging. Genome research, gr-243584.. , 2019

Link: http://hdl.handle.net/10..

5

Genomic imprinting disorders: lessons on how genome, epigen..:

Monk, Dave Nicholas ; Mackay, Deborah J. G ; Eggermann, Thomas..
Reproducció del document publicat a: https://doi.org/10.1038/s41576-018-0092-0. , 2019

Link: http://hdl.handle.net/24..

6

The phenotypic variations of multi-locus imprinting disturb..:

Sparago, Angela ; Verma, Ankit ; Patricelli, Maria Grazia...
https://eprints.soton.ac.uk/436678/1/s13148_019_0760_8.pdf. , 2019

Link: https://eprints.soton.ac..

7

Growth disrupting mutations in epigenetic regulatory molecu..:

Jeffries, Aaron R ; Maroofian, Reza ; Salter, Claire G...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6633263/. , 2019

Link: http://www.ncbi.nlm.nih...

8

Discrepant molecular and clinical diagnoses in Beckwith-Wie..:

Mackay, Deborah J.G ; Bliek, Jet ; Lombardi, Maria Paola...
info:eu-repo/semantics/altIdentifier/doi/10.1017/S001667231900003X. , 2019

Link: https://hal.sorbonne-uni..

9

Discrepant molecular and clinical diagnoses in Beckwith-Wie..:

Mackay, Deborah J. G ; Bliek, Jet ; Maher, Eamonn...
info:eu-repo/semantics/altIdentifier/doi/10.18154/RWTH-CONV-240599. , 2019

Link: https://publications.rwt..

10

Discrepant molecular and clinical diagnoses in Beckwith-Wie..:

Mackay, Deborah J.g ; Bliek, Jet ; Lombardi, Maria Paola...
https://eprints.soton.ac.uk/428674/1/190107_discrepant_bws_srs.docx. , 2019

Link: https://eprints.soton.ac..

11

Genetic diagnosis of subfertility: the impact of meiosis an..:

Gheldof, Alexander ; Mackay, Deborah J G ; Cheong, Ying.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581078/. , 2019

Link: http://www.ncbi.nlm.nih...

12

Discrepant molecular and clinical diagnoses in Beckwith-Wie..:

Mackay, Deborah J.G ; Bliek, Jet ; Lombardi, Maria Paola...
info:eu-repo/semantics/altIdentifier/doi/10.1017/S001667231900003X. , 2019

Link: https://hal.sorbonne-uni..

13

Maternal variants in NLRP and other maternal effect protein..:

Begemann, Matthias ; Rezwan, Faisal I ; Kleinle, Stephanie...
info:eu-repo/semantics/altIdentifier/issn/1468-6244. , 2018

Link: https://publications.rwt..

14

Revisiting Wilms tumour surveillance in Beckwith–Wiedemann ..:

Brioude, Frédéric ; Hennekam, Raoul ; Bliek, Jet...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891506/. , 2018

Link: http://www.ncbi.nlm.nih...

15

Clinical and molecular diagnosis, screening and management ..:

Brioude, Frédéric ; Kalish, Jennifer, M ; Mussa, Alessandro...
info:eu-repo/semantics/altIdentifier/doi/10.1038/nrendo.2017.166. , 2018

Link: https://hal.science/hal-..