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11 . Academic Journal
Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7
저자
by
Elisa Maria Turco
;
Ersilia Vinci
;
Filomena Altieri
;
Daniela Ferrari
;
Barbara Torres
, et al.
소스
Stem Cell Research, Vol 32, Iss , Pp 73-77 (2018)
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17 . Academic Journal
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation
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by
Alice Traversa
;
Silvia Bernardo
;
Alessandro Paiardini
;
Agnese Giovannetti
;
Enrica Marchionni
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
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17 . Academic Journal
Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome
저자
by
Filomena Altieri
;
Elisa Maria Turco
;
Ersilia Vinci
;
Barbara Torres
;
Daniela Ferrari
, et al.
소스
Stem Cell Research, Vol 28, Iss , Pp 153-156 (2018)
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17 . Academic Journal
Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease
저자
by
Jessica Rosati
;
Eris Bidollari
;
Giovannina Rotundo
;
Daniela Ferrari
;
Barbara Torres
, et al.
소스
Stem Cell Research, Vol 27, Iss , Pp 86-89 (2018)
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17 . Academic Journal
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care
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by
Pablo Gargallo
;
Silvestre Oltra
;
Yania Yáñez
;
Antonio Juan-Ribelles
;
Inés Calabria
, et al.
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Cancers, Vol 13, Iss 21, p 5339 (2021)
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17 . Academic Journal
Skin symptoms as diagnostic clue for autoinflammatory diseases
저자
by
Alvaro Moreira
;
Barbara Torres
;
Juliano Peruzzo
;
Alberto Mota
;
Kilian Eyerich
, et al.
소스
Anais Brasileiros de Dermatologia, Vol 92, Iss 1, Pp 72-80 (2017)
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17 .
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells
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by
Gioia Mastromoro
;
Daniele Guadagnolo
;
Enrica Marchionni
;
Barbara Torres
;
Marina Goldoni
, et al.
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American Journal of Medical Genetics Part A
. 191:1101-1106
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17 .
Prenatal CFAP53-related laterality defect: case report and review of the literature
저자
by
Gioia Mastromoro
;
Daniele Guadagnolo
;
Antonio Novelli
;
Barbara Torres
;
Maria Piane
, et al.
소스
The Journal of Maternal-Fetal & Neonatal Medicine
. 36
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17 .
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
저자
by
Francesca Piceci-Sparascio
;
Lucia Micale
;
Barbara Torres
;
Valentina Guida
;
Federica Consoli
, et al.
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17 .
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
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by
Mary R. Sy
;
Jaynee Chauhan
;
Katrina Prescott
;
Aliza Imam
;
Alison Kraus
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