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Dentici, Maria L.
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1

POU3F3-related disorder:Defining the phenotype and expandin..:

Rossi, Alessandra ; Blok, Lot Snijders ; Neuser, Sonja...
https://research.rug.nl/en/publications/2fd9acfb-e649-465c-8136-e2d987db37c6.  , 2023
Link: https://hdl.handle.net/1..
 
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2

Identifying phenotypic expansions for congenital diaphragma..:

Hardcastle, Amy ; Berry, Aliska M ; Campbell, Ian M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9474674/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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3

Identifying phenotypic expansions for congenital diaphragma..:

Hardcastle, Amy ; Berry, Aliska ; Campbell, Ian...
qt0643544f.  , 2022
Link: https://escholarship.org..
 
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4

Proximal variants in CCND2 associated with microcephaly, sh..:

Pirozzi, Filomena ; Lee, Benson ; Horsley, Nicole...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8725575/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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5

CHARGE syndrome due to deletion of region upstream of CHD7 ..:

Pisaneschi, Elisa ; Sirleto, Pietro ; Lepri, Francesca...
http://www.biomedcentral.com/1471-2350/16/78.  , 2015
Link: http://www.biomedcentral..
 
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6

Diagnosis of Noonan syndrome and related disorders using ta..:

Lepri, Francesca ; Scavelli, Rossana ; Digilio, Maria...
http://www.biomedcentral.com/1471-2350/15/14.  , 2014
Link: http://www.biomedcentral..
 
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7

SOS1 MUTATIONS IN NOONAN SYNDROME: AN UPDATE ON MOLECULAR S..:

Lepri, Francesca ; de Luca, Alessandro ; Stella, Lorenzo...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.21492.  , 2011
Link: https://hal.science/hal-..
 
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8

SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Stru..:

Lepri, Francesca ; De Luca, Alessandro ; Stella, Lorenzo...
Human Mutation.  , 2011
Link: http://repositorio.unife..
 
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9

SOS1 MUTATIONS IN NOONAN SYNDROME: AN UPDATE ON MOLECULAR S..:

Lepri, Francesca ; De Luca, Alessandro ; Stella, Lorenzo...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.21492.  , 2011
Link: https://hal.archives-ouv..
 
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10

SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Stru..:

Lepri, Francesca ; De Luca, Alessandro ; Stella, Lorenzo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3118925.  , 2011
Link: http://www.ncbi.nlm.nih...
 
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11

Germline BRAF mutations in Noonan, LEOPARD and cardiofacioc..:

Sarkozy, Anna ; Carta, Claudio ; Moretti, Sonia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC.  , 2009
Link: http://www.ncbi.nlm.nih...
 
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12

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10760965/.  , 2024
Link: http://www.ncbi.nlm.nih...
 
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13

Analysis of gut microbiota in patients with Williams–Beuren..:

Del Chierico, Federica ; Marzano, Valeria ; Scanu, Matteo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10275996/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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14

Williams–Beuren syndrome shapes the gut microbiota metaprot..:

Marzano, Valeria ; Levi Mortera, Stefano ; Vernocchi, Pamela...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10624682/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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15

Deep phenotyping of the neuroimaging and skeletal features ..:

Peluso, Francesca ; Caraffi, Stefano G ; Contrò, Gianluca...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10715526/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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