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1 . Academic Journal
A novel mutation in the fibrinogen γ-chain gene c.952G>T, p. (Gly318Cys) leading to hypo dysfibrinogenemia
저자
by
Casoria, Aniello
;
Miele, Ciro
;
Capasso, Filomena
;
Mormile, Rosaria
;
Bisceglia, Luigi
, et al.
소스
In
Thrombosis Research
February 2024 234:59-62
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7 . Academic Journal
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder
저자
by
Morlino, Silvia
;
Vaccaro, Lorenzo
;
Leone, Maria Pia
;
Nardella, Grazia
;
Bisceglia, Luigi
, et al.
소스
Journal of Human Genetics
. 69(6):287-290
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7 . Periodical
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAPvariant causing DEHMBA syndrome with severe sleep disorder
저자
by
Morlino, Silvia
;
Vaccaro, Lorenzo
;
Leone, Maria Pia
;
Nardella, Grazia
;
Bisceglia, Luigi
, et al.
소스
Journal of Human Genetics; 20240101, Issue: Preprints p1-4, 4p
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7 . Academic Journal
Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene.
저자
by
Micale, Lucia
;
Russo, Federica
;
Mascaro, Martina
;
Morlino, Silvia
;
Nardella, Grazia
, et al.
소스
Pediatric Research; Apr2023, Vol. 93 Issue 5, p1208-1215, 8p
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7 . Academic Journal
Genetic Heterogeneity in Italian Families with IgA Nephropathy: Suggestive Linkage for Two Novel IgA Nephropathy Loci
저자
by
Bisceglia, Luigi
;
Cerullo, Giuseppina
;
Forabosco, Paola
;
Torres, Diletta Domenica
;
Scolari, Francesco
, et al.
소스
In
The American Journal of Human Genetics
December 2006 79(6):1130-1134
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7 . Academic Journal
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.
저자
by
Torraco, Alessandra
;
Morlino, Silvia
;
Rizza, Teresa
;
Di Nottia, Michela
;
Bottaro, Giorgia
, et al.
소스
Clinical Genetics
. Jul2022, Vol. 102 Issue 1, p56-60. 5p.
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7 . Academic Journal
Cystinuria type I: Identification of eight new mutations in SLC3A1
저자
by
Bisceglia, Luigi
;
Purroy, Jesús
;
Jiménez-Vidal, Maite
;
D'Adamo, Adamo P.
;
Rousaud, Ferran
, et al.
소스
In
Kidney International
April 2001 59(4):1250-1256
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7 . Academic Journal
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.
저자
by
Micale, Lucia
;
Cialfi, Samantha
;
Fusco, Carmela
;
Cinque, Luigia
;
Castellana, Stefano
, et al.
소스
Human Molecular Genetics; 9/20/2020, Vol. 29 Issue 18, p3122-3131, 10p
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7 . Academic Journal
Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.
저자
by
Palumbo, Pietro
;
Palumbo, Orazio
;
Pia Leone, Maria
;
di Muro, Ester
;
Castellana, Stefano
, et al.
소스
Genes
. Apr2020, Vol. 11 Issue 4, p1-11. 11p. 2 Charts, 4 Graphs.
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7 . Academic Journal
Resequencing of candidate genes for Keratoconus reveals a role for Ehlers–Danlos Syndrome genes
저자
by
Fransen, Erik
;
Valgaeren, Hanne
;
Janssens, Katleen
;
Sommen, Manou
;
De Ridder, Raphael
, et al.
소스
European Journal of Human Genetics
. 29(12):1745-1755
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