E-LIB Suche - Ergebnisse für: Lombardi, Maria Paola

1

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

Mackay, Deborah J.G. ; Bliek, Jet ; Lombardi, Maria Paola...
Genetics Research. 101 (2019) - p. , 2019

2

Focal dermal hypoplasia without focal dermal hypoplasia:

Contreras‐Capetillo, Silvina N. ; Lombardi, Maria Paola ; Pinto‐Escalante, Doris.
American Journal of Medical Genetics Part A. 164 (2013) 3 - p. 778-781 , 2013

Link: https://doi.org/10.1002/..

3

Co‐occurrence of severe Goltz–Gorlin syndrome and pentalogy..:

Smigiel, Robert ; Jakubiak, Aleksandra ; Lombardi, Maria Paola...
American Journal of Medical Genetics Part A. 155 (2011) 5 - p. 1102-1105 , 2011

Link: https://doi.org/10.1002/..

4

Mutation update for the PORCN gene:

Lombardi, Maria Paola ; Bulk, Saskia ; Celli, Jacopo...
Human Mutation. 32 (2011) 7 - p. 723-728 , 2011

Link: https://doi.org/10.1002/..

5

Prevalence of (Epi)genetic Predisposing Factors in a 5-Year..:

Hol, Janna A ; Kuiper, Roland P ; van Dijk, Freerk...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9177240/. , 2022

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

6

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..

7

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..

8

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..

9

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..

10

Mutation Update for the PORCN Gene:

Lombardi, Maria Paola ; Hennekam, Raoul CM ; Bulk, Saskia...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.21505. , 2011

Link: https://hal.archives-ouv..

11

Recollection and familiarity components of recognition: eff..:

Lombardi, Maria Giovanna ; Fadda, Lucia ; Serra, Laura...
Neurocase. 22 (2015) 1 - p. 1-11 , 2015

Link: https://doi.org/10.1080/..

12

Synthesis, crystal structure and magnetic properties of the..:

De Munno, Giovanni ; Lombardi, Maria Grazia ; Paoli, Paola..
Inorganica Chimica Acta. 282 (1998) 2 - p. 252-256 , 1998

Link: https://doi.org/10.1016/..

13

Is there inter-observer variation in the interpretation of ..:

Celani, Maria Grazia ; Carrai, Riccardo ; Cantisani, Teresa Anna...
Resuscitation. 155 (2020) - p. 207-210 , 2020

Link: https://doi.org/10.1016/..

14

Trehalose administration in C57BL/6N old mice affects healt..:

Berry, Alessandra ; Marconi, Matteo ; Musillo, Chiara...
Experimental Gerontology. 129 (2020) - p. 110755 , 2020

Link: https://doi.org/10.1016/..

15

Estrogen receptor beta (ERβ) mediates expression of β-caten..:

Lombardi, Ana Paola G. ; Pisolato, Raisa ; Vicente, Carolina M....
Molecular and Cellular Endocrinology. 430 (2016) - p. 12-24 , 2016

Link: https://doi.org/10.1016/..