E-LIB Suche - Ergebnisse für: Piemontese, Maria Rosaria

1

DNA methylation episignature testing improves molecular dia..:

Kerkhof, Jennifer ; Squeo, Gabriella Maria ; McConkey, Haley...
Genetics in Medicine. 24 (2022) 1 - p. 51-60 , 2022

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

2

The Genetic Landscape of Dystrophin Mutations in Italy: A N..:

Neri, Marcella ; Rossi, Rachele ; Trabanelli, Cecilia...
Frontiers in Genetics. 11 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

3

Familial cleidocranial dysplasia misdiagnosed as rickets ov..:

Franceschi, Roberto ; Maines, Evelina ; Fedrizzi, Michela...
Pediatrics International. 57 (2015) 5 - p. 1003-1006 , 2015

Link: https://doi.org/10.1111/..

4

Ehlers-Danlos syndrome versus cleidocranial dysplasia:

Bedeschi, Maria Francesca ; Bonarrigo, Francesca ; Manzoni, Francesca...
Italian Journal of Pediatrics. 40 (2014) 1 - p. , 2014

Link: https://doi.org/10.1186/..

5

Multiple tumor types including leiomyoma and Wilms tumor in..:

Garavelli, Livia ; Piemontese, Maria Rosaria ; Cavazza, Alberto...
American Journal of Medical Genetics Part A. 161 (2013) 11 - p. 2894-2901 , 2013

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

6

Sedlin Controls the ER Export of Procollagen by Regulating ..:

Venditti, Rossella ; Scanu, Tiziana ; Santoro, Michele...
Science. 337 (2012) 6102 - p. 1668-1672 , 2012

Link: https://www.jstor.org/st..

7

An emerging phenotype of interstitial 15q25.2 microdeletion..:

Palumbo, Orazio ; Palumbo, Pietro ; Palladino, Teresa...
American Journal of Medical Genetics Part A. 158A (2012) 12 - p. 3182-3189 , 2012

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

8

Sedlin Controls the ER Export of Procollagen by Regulating ..:

Venditti, Rossella ; Scanu, Tiziana ; Santoro, Michele...
Science. 337 (2012) 6102 - p. 1668-1672 , 2012

Link: https://doi.org/10.1126/..

9

Novel mutations of dystrophin gene in DMD patients detected..:

Muscarella, Lucia Anna ; Piemontese, Maria Rosaria ; Barbano, Raffaela...
Biomolecular Engineering. 24 (2007) 2 - p. 231-236 , 2007

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

10

HOXA1 gene variants influence head growth rates in humans:

Muscarella, Lucia Anna ; Guarnieri, Vito ; Sacco, Roberto...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 144B (2006) 3 - p. 388-390 , 2006

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

11

Combined 17α-Hydroxylase/17,20-Lyase Deficiency Caused by P..:

Di Cerbo, Alfredo ; Biason-Lauber, Anna ; Savino, Maria...
The Journal of Clinical Endocrinology & Metabolism. 87 (2002) 2 - p. 898-905 , 2002

Link: https://doi.org/10.1210/..

12

Positional cloning of the Fanconi anaemia group A gene:

Apostolou, Sinoula ; Whitmore, Scott A. ; Crawford, Joanna...
Nature Genetics. 14 (1996) 3 - p. 324-328 , 1996

Link: https://doi.org/10.1038/..

13

Linkage analysis of Fanconi anaemia in Italy and mapping of..:

Savoia, A. ; Piemontese, Maria Rosaria ; Savino, Maria...
Human Genetics. 99 (1996) 1 - p. 93-97 , 1996

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

14

The Genetic Landscape of Dystrophin Mutations in Italy: A N..:

Neri, Marcella ; Rossi, Rachele ; Trabanelli, Cecilia...
info:eu-repo/semantics/altIdentifier/pmid/32194622. , 2020

Link: http://hdl.handle.net/11..

15

The Genetic Landscape of Dystrophin Mutations in Italy: A N..:

Neri, Marcella ; Rossi, Rachele ; Trabanelli, Cecilia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063120/. , 2020

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