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1
Relationship of age, atherosclerosis and angiographic stenosis using artificial intelligence

von Mouaz H Al-Mallah ; Daniele Andreini ; Hyuk-Jae Chang ; et al.

Open Heart, Vol 8, Iss 2 (2021)

Schlagworte: Diseases of the circulatory (Cardiovascular) system; RC666-701
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2
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice

von Bagheri-Fam, S. ; Chen, H. ; Wilson, S. ; et al.

http://dx.doi.org/10.1371/journal.pone.0227411.

Schlagworte: Ovary; Testis; Sertoli Cells; Gonads; Animals; Humans; Mice; Gonadal Dysgenesis; Hydroxymethylglutaryl-CoA Synthase; Gene Expression Regulation; Developmental; Heterozygote; Mutation; Missense; Adolescent; Female; Male; Sex-Determining Region Y Protein; Disorders of Sex Development
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3
Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

von Lantieri F. ; Gimelli S. ; Viaggi C. ; et al.

Schlagworte: Candidate genes and regions; Comparative genomic hybridization; Copy number variations; Custom array; Hirschsprung disease
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4
Somaclonal Variation in Improving Ornamental Plants

von Jain, S. M. ; Buiatti, M. ; Gimelli, F. ; et al.

Somaclonal Variation and Induced Mutations in Crop Improvement. 32:81-104
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5
Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation.

von LANTIERI, FRANCESCA ; Malacarne, M ; Gimelli, S ; et al.
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6
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization.

von Striano P ; Coppola A ; Paravidino R ; et al.
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7
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

von Bonaglia MC ; Giorda R ; Beri S ; et al.

Schlagworte: Phelan/McDermid Syndrome
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8
A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines

von Gimelli, G. ; Giorda, R. ; Beri, S. ; et al.

In European Journal of Medical Genetics 2007 50(4):264-273
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9
Investigation of Scavenging, Combustion and Knock in a Two-Stroke SI Engine Operated with Gasoline and CNG

von S Fontanesi ; E Severi ; F Bozza ; et al.

International Journal of Automotive Engineering, Vol 3, Iss 3, Pp 97-105 (2012)

Schlagworte: Motor vehicles. Aeronautics. Astronautics; TL1-4050
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10
Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and Neurodegeneration

von Murray, A ; Letourneau, A ; Canzonetta, C ; et al.

Schlagworte: Down syndrome; Neurodegeneration; Neurogenesis; Neuronal differentiation
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11
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

von Fokstuen, S. ; Makrythanasis, P. ; Hammar, E. ; et al.

Human Genomics ; volume 10, issue 1 ; ISSN 1479-7364
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12
Interstitial deletion 14q31.1q31.3 transmitted from a mother to her daughter, both with features of hemifacial microsomia

von Gimelli, S. ; Cuoco, C. ; Ronchetto, P. ; et al.

Journal of Applied Genetics. August 2013 54(3):361-365
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13
Pretransplant HLA mistyping in diagnostic samples of acute myeloid leukemia patients due to acquired uniparental disomy

von Dubois, V ; Sloan-Béna, F ; Cesbron, A ; et al.

Leukemia. 26(9):2079-2085
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14
Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration

von Murray, A ; Letourneau, A ; Canzonetta, C ; et al.

Stem Cells , 33 (6) pp. 2077-2084. (2015)

Schlagworte: Down syndrome; Neurodegeneration; Neurogenesis; Neuronal differentiation; Aging; Animals; Cell Differentiation; Cells; Cultured; Fibroblasts; Humans; Induced Pluripotent Stem Cells; Mitochondria; Neurons
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15
2q24–q31 Deletion: Report of a case and review of the literature

von Pescucci, C. ; Caselli, R. ; Grosso, S. ; et al.

In European Journal of Medical Genetics 2007 50(1):21-32
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16
Poster display II clinical general

von Gurgenyan ; Vatinyan ; Nikogosyan ; et al.

Journal of Nuclear Cardiology. March 2005 12(2):S20-S38
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17
Genotype-phenotype correlation of 2q37 deletions including NPPC gene associated with skeletal malformations

von Tassano, E. ; Buttgereit, J. ; Bader, M. ; et al.

Schlagworte: Cardiovascular and Metabolic Diseases
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18
412 Combination of Genomic Technologies and Consanguinity in Order to Identify Pathogenic Variants in Recessive Disorders

von Makrythanasis, P ; Nelis, M ; Santoni, FA ; et al.

Schlagworte: Poster symposium presentations
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19
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats

von Bena, F. ; Gimelli, S. ; Migliavacca, E. ; et al.

Human Molecular Genetics ; volume 19, issue 10, page 1967-1973 ; ISSN 0964-6906 1460-2083
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20
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

von Rossi, E ; Riegel, M ; Messa, J ; et al.

Rossi, E; Riegel, M; Messa, J; Gimelli, S; Maraschio, P; Ciccone, R; Stroppi, M; Riva, P; Perrotta, C S; Mattina, T; Memo, L; Baumer, A; Kucinskas, V; Castellan, C; Schinzel, A; Zuffardi, O (2008). Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. Journal of Medical Genetics, 45(3):147-54.

Schlagworte: Institute of Medical Genetics; 570 Life sciences; biology; 610 Medicine & health
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21
Cryptic deletions are a common finding in 'balanced' reciprocal and complex chromosome rearrangements: a study of 59 patients

von De Gregori, M ; Ciccone, R ; Magini, P ; et al.

Schlagworte: Original articles
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22
Molecular Characterization of Xp Chromosome Deletion in a Fertile Cow

von De Lorenzi, L. ; Rossi, E. ; Genualdo, V. ; et al.

Sexual Development ; volume 6, issue 6, page 298-302 ; ISSN 1661-5425 1661-5433
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23
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

von Thienpont, B ; Bena, F ; Breckpot, J ; et al.

JOURNAL OF MEDICAL GENETICS ; ISSN: 0022-2593

Schlagworte: Medicine and Health Sciences; COPY NUMBER; MENTAL-RETARDATION; PHENOTYPE; IMBALANCE; CURCUMIN; DELAY; CBP
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24
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice

von Bagheri-Fam, S ; Chen, H ; Wilson, S ; et al.

Schlagworte: info:eu-repo/semantics/article; info:eu-repo/semantics/publishedVersion
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25
Karyotypic flexibility of the complex cancer genome and the role of polyploidization in maintenance of structural integrity of cancer chromosomes

von Raftopoulou, C. ; Roumelioti, F.-M. ; Dragona, E. ; et al.

Schlagworte: scientific_publication_article; Scientific publication - Journal Article
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