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1 . 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 . Periodical
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; June 2021, Vol. 23 Issue: 6 p1116-1124, 9p
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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; Jun2020, Vol. 40 Issue 7, p905-908, 4p
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7 . Academic Journal
3.2 Mb microdeletion in chromosome 7 bands q22.2–q22.3 associated with overgrowth and delayed bone age
저자
by
Uliana, Vera
;
Grosso, Salvatore
;
Cioni, Maddalena
;
Ariani, Francesca
;
Papa, Filomena T.
, et al.
소스
In
European Journal of Medical Genetics
2010 53(3):168-170
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7 . Academic Journal
Bone Marrow Failure and Developmental Delay Caused By Mutations in Poly(A)-Specific Ribonuclease
저자
by
Dhanraj, Santhosh
;
Rao Gunja, Sethu Madhava
;
Deveau, Adam P
;
Nissbeck, Mikael
;
Boonyawat, Boonchai
, et al.
소스
In
Blood
3 December 2015 126(23):2404-2404
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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
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.
저자
by
Amitrano, Sara
;
Marozza, Annabella
;
Somma, Serena
;
Imperatore, Valentina
;
Hadjistilianou, Theodora
, et al.
소스
European Journal of Human Genetics
. Nov2015, Vol. 23 Issue 11, p1523-1530. 8p.
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7 . Academic Journal
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome.
저자
by
Disciglio, Vittoria
;
Rizzo, Caterina Lo
;
Mencarelli, Maria Antonietta
;
Mucciolo, Mafalda
;
Marozza, Annabella
, et al.
소스
American Journal of Medical Genetics. Part A; Jul2014, Vol. 164A Issue 7, p1666-1676, 11p
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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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