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1 . Academic Journal
Linking Nematode Communities and Soil Health under Climate Change
저자
by
David Pires
;
Valeria Orlando
;
Raymond L. Collett
;
David Moreira
;
Sofia R. Costa
, et al.
소스
Sustainability, Vol 15, Iss 15, p 11747 (2023)
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7 . Academic Journal
Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements
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by
Viola Alesi
;
Silvia Genovese
;
Francesca Romana Lepri
;
Giorgia Catino
;
Sara Loddo
, et al.
소스
Biomolecules, Vol 13, Iss 5, p 725 (2023)
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7 . Academic Journal
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy
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by
Valeria Orlando
;
Silvia Di Tommaso
;
Viola Alesi
;
Sara Loddo
;
Silvia Genovese
, et al.
소스
International Journal of Molecular Sciences, Vol 23, Iss 21, p 12900 (2022)
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7 . Academic Journal
1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review
저자
by
Valentina Lodato
;
Valeria Orlando
;
Viola Alesi
;
Silvia Di Tommaso
;
Mario Bengala
, et al.
소스
Journal of Cardiovascular Development and Disease, Vol 8, Iss 11, p 159 (2021)
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7 . Academic Journal
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis
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by
Viola Alesi
;
Maria Lisa Dentici
;
Silvia Genovese
;
Sara Loddo
;
Emanuele Bellacchio
, et al.
소스
International Journal of Molecular Sciences, Vol 22, Iss 750, p 750 (2021)
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7 . Academic Journal
7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability
저자
by
Francesco Paduano
;
Emma Colao
;
Sara Loddo
;
Valeria Orlando
;
Francesco Trapasso
, et al.
소스
Genes, Vol 11, Iss 5, p 525 (2020)
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7 .
Fetal first-trimester cystic hygroma as the prenatal presenting feature of ASCC1-related Spinal Muscular Atrophy with Bone Fractures 2
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by
Daniele Guadagnolo
;
Gioia Mastromoro
;
Nader Khaleghi Hashemian
;
Valeria Orlando
;
Francesca Romana Lepri
, et al.
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Journal of Obstetrics and Gynaecology Canada
.
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7 .
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X , DDX3X , and CASK genes in two patients with syndromic intellectual disability
저자
by
Giorgia Catino
;
Silvia Genovese
;
Silvia Tommaso
;
Valeria Orlando
;
Maria Teresa Petti
, et al.
소스
American Journal of Medical Genetics Part A
. 188:1836-1847
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7 .
8p23.1
deletion
:
Look out for left ventricular hypertrabeculation and not only congenital heart diseases
.
Single
‐
center experience and literature revision
저자
by
Marianna Cicenia
;
Viola Alesi
;
Valeria Orlando
;
Monia Magliozzi
;
Silvia Di Tommaso
, et al.
소스
American Journal of Medical Genetics Part A
. 188:883-895
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7 .
Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies
저자
by
Ester Sallicandro
;
Maria Teresa Liambo
;
Antonio Novelli
;
Maria Grazia Di Gregorio
;
Valeria Orlando
, et al.
소스
Reproductive Sciences
. 28:1142-1149
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