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1 . Academic Journal
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4
저자
by
Bedeschi, Maria Francesca
;
Marangi, Giuseppe
;
Calvello, Maria Rosaria
;
Ricciardi, Stefania
;
Leone, Francesca Pia Chiara
, et al.
소스
In
European Journal of Medical Genetics
November 2017 60(11):565-571
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7 . Academic Journal
7p22.1 microduplication syndrome: Refinement of the critical region
저자
by
Ronzoni, Luisa
;
Grassi, Francesca Sofia
;
Pezzani, Lidia
;
Tucci, Arianna
;
Baccarin, Marco
, et al.
소스
In
European Journal of Medical Genetics
February 2017 60(2):114-117
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7 . Academic Journal
Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features
저자
by
Silipigni, Rosamaria
;
Cattaneo, Elisa
;
Baccarin, Marco
;
Fumagalli, Monica
;
Bedeschi, Maria Francesca
.
소스
In
European Journal of Medical Genetics
January 2016 59(1):39-42
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7 . Academic Journal
Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder.
저자
by
Cucinotta, Francesca
;
Lintas, Carla
;
Tomaiuolo, Pasquale
;
Baccarin, Marco
;
Picinelli, Chiara
, et al.
소스
Molecular Genetics & Genomic Medicine
. Aug2023, Vol. 11 Issue 8, p1-16. 16p.
Open Access (Wiley)
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7 . Academic Journal
RNA sequencing of blood from sex- and age-matched discordant siblings supports immune and transcriptional dysregulation in autism spectrum disorder.
저자
by
Tomaiuolo, Pasquale
;
Piras, Ignazio Stefano
;
Sain, Simona Baghai
;
Picinelli, Chiara
;
Baccarin, Marco
, et al.
소스
Scientific Reports
. 1/16/2023, Vol. 13 Issue 1, p1-11. 11p.
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7 . Academic Journal
Yield of array‐CGH analysis in Tunisian children with autism spectrum disorder.
저자
by
Chehbani, Fethia
;
Tomaiuolo, Pasquale
;
Picinelli, Chiara
;
Baccarin, Marco
;
Castronovo, Paola
, et al.
소스
Molecular Genetics & Genomic Medicine
. Aug2022, Vol. 10 Issue 8, p1-17. 17p.
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7 . Academic Journal
FARP‐1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family.
저자
by
Cucinotta, Francesca
;
Ricciardello, Arianna
;
Turriziani, Laura
;
Calabrese, Giorgia
;
Briguglio, Marilena
, et al.
소스
Molecular Genetics & Genomic Medicine
. Sep2020, Vol. 8 Issue 9, p1-7. 7p.
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7 . Academic Journal
Huntingtin gene CAG repeat size affects autism risk: Family‐based and case–control association study.
저자
by
Piras, Ignazio Stefano
;
Picinelli, Chiara
;
Iennaco, Raffaele
;
Baccarin, Marco
;
Castronovo, Paola
, et al.
소스
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics; Sep2020, Vol. 183 Issue 6, p341-351, 11p
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7 . Academic Journal
Appropriateness of array‐CGH in the ADHD clinics: A comparative study.
저자
by
Baccarin, Marco
;
Picinelli, Chiara
;
Tomaiuolo, Pasquale
;
Castronovo, Paola
;
Costa, Anna
, et al.
소스
Genes, Brain & Behavior
. Jul2020, Vol. 19 Issue 6, p1-9. 9p.
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7 . Academic Journal
Phenotypic spectrum of NRXN1 mono‐ and bi‐allelic deficiency: A systematic review.
저자
by
Castronovo, Paola
;
Baccarin, Marco
;
Ricciardello, Arianna
;
Picinelli, Chiara
;
Tomaiuolo, Pasquale
, et al.
소스
Clinical Genetics
. Jan2020, Vol. 97 Issue 1, p125-137. 13p. 1 Diagram, 2 Charts, 2 Graphs.
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