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1 . Academic Journal
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort
저자
by
Scott, Alexandra
;
Di Giosaffatte, Niccolò
;
Pinna, Valentina
;
Daniele, Paola
;
Corno, Sara
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 23(6):1116-1124
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7 . Academic Journal
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome
저자
by
Emanuele Coccia
;
Lara Valeri
;
Roberta Zuntini
;
Stefano Giuseppe Caraffi
;
Francesca Peluso
, et al.
소스
Genes, Vol 14, Iss 3, p 549 (2023)
Open Access (DOAJ)
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7 . Academic Journal
Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability
저자
by
Mari, Francesca
;
Marozza, Annabella
;
Mencarelli, Maria Antonietta
;
Lo Rizzo, Caterina
;
Fallerini, Chiara
, et al.
소스
In
Brain and Development
May 2015 37(5):527-536
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7 . Academic Journal
Prenatal Clinical Findings in RASA1 -Related Capillary Malformation-Arteriovenous Malformation Syndrome.
저자
by
Coccia, Emanuele
;
Valeri, Lara
;
Zuntini, Roberta
;
Caraffi, Stefano Giuseppe
;
Peluso, Francesca
, et al.
소스
Genes; Mar2023, Vol. 14 Issue 3, p549, 13p
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7 . Academic Journal
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)
저자
by
Dhanraj, Santhosh
;
Gunja, Sethu Madhava Rao
;
Deveau, Adam P
;
Nissbeck, Mikael
;
Boonyawat, Boonchai
, et al.
소스
Journal of Medical Genetics
. Nov 01, 2015 52(11):738-748
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7 . Academic Journal
Epigenetic and Copy Number Variation Analysis in Retinoblastoma by MS-MLPA
저자
by
Livide, Gabriella
;
Epistolato, Maria Carmela
;
Amenduni, Mariangela
;
Disciglio, Vittoria
;
Marozza, Annabella
, et al.
소스
Pathology & Oncology Research: Official Journal of the Arányi Lajos Foundation
. July 2012 18(3):703-712
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7 . Academic Journal
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation
저자
by
Pollazzon, Marzia
;
Suominen, Tiina
;
Penttilä, Sini
;
Malandrini, Alessandro
;
Carluccio, Maria Alessandra
, et al.
소스
Journal of Neurology: Official Journal of the European Neurological Society
. April 2010 257(4):575-579
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7 . Academic Journal
A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
저자
by
Wieczorek, Dagmar
;
Bögershausen, Nina
;
Beleggia, Filippo
;
Steiner-Haldenstätt, Sabine
;
Pohl, Esther
, et al.
소스
Human Molecular Genetics
. Dec 20, 2013 22(25):5121-5135
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7 . Academic Journal
Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome
저자
by
Provenzano, Aldesia
;
Palazzo, Viviana
;
Reho, Paolo
;
Pagliazzi, Angelica
;
Marozza, Annabella
, et al.
소스
PRENATAL DIAGNOSIS
; APR 20 2020, 4p.
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7 . Academic Journal
Array comparative genomic hybridization in retinoma and retinoblastoma tissues
저자
by
Sampieri, Katia
;
Amenduni, Mariangela
;
Papa, Filomena Tiziana
;
Katzaki, Eleni
;
Mencarelli, Maria Antonietta
, et al.
소스
Cancer Science
. Mar 01, 2009 100(3):465-471
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