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1 . Academic Journal
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis
저자
by
Tiziana Fioretti
;
Fabrizio Martora
;
Ilaria De Maggio
;
Adelaide Ambrosio
;
Carmelo Piscopo
, et al.
소스
Biomedicines, Vol 12, Iss 5, p 1112 (2024)
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7 . Academic Journal
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements
저자
by
Adriana Prato
;
Lara Cirnigliaro
;
Federica Maugeri
;
Antonina Luca
;
Loretta Giuliano
, et al.
소스
Journal of Clinical Medicine, Vol 13, Iss 4, p 1109 (2024)
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7 . Academic Journal
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice
저자
by
Salima El Chehadeh
;
Kyung Ah Han
;
Dongwook Kim
;
Gyubin Jang
;
Somayeh Bakhtiari
, et al.
소스
Nature Communications, Vol 13, Iss 1, Pp 1-19 (2022)
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7 . Academic Journal
A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma
저자
by
Luigia De Falco
;
Giuseppina Vitiello
;
Giovanni Savarese
;
Teresa Suero
;
Raffaella Ruggiero
, et al.
소스
Genes, Vol 14, Iss 3, p 668 (2023)
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7 . Academic Journal
The frameshift Leu220Phefs*2 variant in KRIT1 accounts for early acute bleeding in patients affected by cerebral cavernous malformation
저자
by
Autilia Tommasina Buonagura
;
Teresa Somma
;
Francesca Vitulli
;
Giuseppina Vitiello
;
Immacolata Andolfo
, et al.
소스
Interdisciplinary Neurosurgery, Vol 26, Iss , Pp 101367- (2021)
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7 . Academic Journal
Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum
저자
by
Francesco Passaretti
;
Laura Pignata
;
Giuseppina Vitiello
;
Viola Alesi
;
Gemma D’Elia
, et al.
소스
Genes, Vol 13, Iss 10, p 1875 (2022)
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7 . Academic Journal
Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients
저자
by
Tiziana Fioretti
;
Luigi Auricchio
;
Angelo Piccirillo
;
Giuseppina Vitiello
;
Adelaide Ambrosio
, et al.
소스
Diagnostics, Vol 10, Iss 12, p 995 (2020)
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7 .
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
저자
by
Rhonda E. Schnur
;
Fabio Sirchia
;
Olga Levchenko
;
Caroline Nava
;
Jane Juusola
, et al.
소스
American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108, pp.857-873. ⟨10.1016/j.ajhg.2021.04.001⟩
Am J Hum Genet
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7 .
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant
저자
by
Francesco Musacchia
;
Valentina Duga
;
Antonietta Coppola
;
Valeria Capra
;
Corrado Romano
, et al.
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7 .
Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients
저자
by
Adelaide Ambrosio
;
Tiziana Fioretti
;
Giuseppina Vitiello
;
Gabriella Esposito
;
Fabio Cattaneo
, et al.
소스
Diagnostics
Volume 10
Issue 12
Diagnostics, Vol 10, Iss 995, p 995 (2020)
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