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Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
by
Revencu, Nicole
,
Eijkelenboom, Astrid
,
Bracquemart, Claire
,
Alhopuro, Pia
,
Armstrong, Judith
,
Baselga, Eulalia
,
Cesario, Claudia
,
Dentici, Maria Lisa
,
Eyries, Melanie
,
Frisk, Sofia
,
Karstensen, Helena Gásdal
,
Gene-Olaciregui, Nagore
,
Kivirikko, Sirpa
,
Lavarino, Cinzia
,
Mero, Inger-Lise
,
Michiels, Rodolphe
,
Pisaneschi, Elisa
,
Schönewolf-Greulich, Bitten
,
Wieland, Ilse
,
Zenker, Martin
,
Vikkula, Miikka
Published in
Orphanet journal of rare diseases
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New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle
by
De Luca, A
,
Sarkozy, A
,
Ferese, R
,
Consoli, F
,
Lepri, F
,
Dentici, ML
,
Vergara, P
,
De Zorzi, A
,
Versacci, P
,
Digilio, MC
,
Marino, B
,
Dallapiccola, B
Published in
Clinical genetics
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Syndromic non-compaction of the left ventricle: associated chromosomal anomalies
by
Digilio, MC
,
Bernardini, L
,
Gagliardi, MG
,
Versacci, P
,
Baban, A
,
Capolino, R
,
Dentici, ML
,
Roberti, MC
,
Angioni, A
,
Novelli, A
,
Marino, B
,
Dallapiccola, B
Published in
Clinical genetics
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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
by
Radio, FC
,
Pang, KF
,
Ciolfi, A
,
Levy, MA
,
Pedace, L
,
de Boer, E
,
Jackson, A
,
Stellacci, E
,
Lo Cicero, S
,
Dentici, ML
,
McWalter, K
,
Sanchez-Lara, PA
,
Lindstrom, K
,
Madan-Khetarpal, S
,
MacKenzie, JJ
,
Monteleone, B
,
Zhou, DH
,
Sawyer, SL
,
Monteiro, FP
,
Macke, EL
,
Iascone, M
,
Selicorni, A
,
Tenconi, R
,
Amor, DJ
,
Stals, K
,
Cabet, S
,
Steindl, K
,
Weiss, K
,
Castle, AMR
,
Kalsner, L
,
Chandler, KE
,
Sheehan, W
,
Shinde, DN
,
Goodloe, D
,
Bluske, K
,
Faletra, F
,
Kurtz-Nelson, EC
,
Anderlid, BM
,
Barakat, TS
,
Graham, JM
,
Faivre, L
,
Banka, S
,
Wang, TY
,
Priolo, M
,
Dallapiccola, B
,
Vissers, LELM
,
Sadikovic, B
,
Scott, DA
,
Holder, JL
,
Tartaglia, M
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Conference Proceeding
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