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Anca Gabriela Pavel
Anca Gabriela Pavel
Cytogenomic Medical Laboratory
在 cytogenomic.ro 的电子邮件经过验证
标题
引用次数
引用次数
年份
De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart …
C Gug, D Stoicanescu, I Mozos, L Nussbaum, M Cevei, D Stambouli, ...
Frontiers in Pediatrics 8, 375, 2020
122020
Mature miR-99a upregulation in the amniotic fluid samples from female fetus down syndrome pregnancies: a pilot study
AC Vizitiu, D Stambouli, AG Pavel, MC Muresan, DM Anastasiu, C Bejinar, ...
Medicina 55 (11), 728, 2019
92019
Phenotypic Variability of 17q12 Microdeletion Syndrome–Three Cases and Review of Literature
A Țuțulan-Cuniță, AG Pavel, L Dimos, M Nedelea, A Ursuleanu, ...
Balkan Journal of Medical Genetics 24 (2), 71-82, 2021
72021
A herpetological hotspot in peril: Anthropogenic impact upon the amphibian and reptile populations from the Baile Herculane tourist resort
TC Sahlean, A Strugariu, SR Zamfirescu, A Pavel, CM Puscasu, ...
Romania. Herp. Rom 2, 37-46, 2008
72008
Influences of angiotensin I-converting enzyme gene insertion/deletion polymorphism on prostate cancer risk in Romania
AG Pavel, D Stambouli, C Gingu, A Preda, I Gener, C Baston, G Anton
Romanian Biotechnological Letters 24, 1043-9, 2019
32019
Leukemic conversion involving RAS mutations of type 1 CALR-mutated primary myelofibrosis in a patient treated for HCV cirrhosis: a case report
P Gurban, C Mambet, A Botezatu, LG Necula, AI Neagu, L Matei, IM Pitica, ...
Frontiers in oncology 13, 1266996, 2023
22023
The Impact of Next Generation Sequencing in Diagnosis and Management of Rare Diseases: Bloom Syndrome.
IO FOCSA, A TUTULAN-CUNITA, A PAVEL, D PREPELITA, D BRATU, ...
Medicina Moderna 29 (3), 2022
22022
Genetic variant located on chromosome 17p12 contributes to prostate cancer onset and biochemical recurrence
AG Pavel, D Stambouli, I Gener, A Preda, G Anton, C Baston
Scientific Reports 12 (1), 4546, 2022
22022
Cumulative Effect Assessment of Common Genetic Variants on Prostate Cancer: Preliminary Studies
AG Pavel, D Stambouli, G Anton, I Gener, A Preda, C Baston, C Gingu
Biomedicines 10 (11), 2733, 2022
12022
SNP microarray-our experience in prenatal diagnosis
A Pavel, L Dimos, E Rentea, A Tutulan-Cunita, A Mocanu, D Stambouli
Molecular Cytogenetics 12, 2019
12019
A rare prenatal case of osteogenesis imperfecta
FM Nedelea, D Prepelita, A Tutulan-Cunita, A Pavel, G Cardos, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 104-105, 2024
2024
Further evidence of a novel PPP1R12A frameshift variant involved in anomalies of sexual development
IO Focsa, A Tutulan-Cunita, A Pavel, D Prepelita, C Strugaru, EE Braha, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 134-134, 2024
2024
Preliminary results of the first carrier screening study in the Romanian population
D Prepelita, A Tutulan-Cunita, A Pavel, G Lungu, V Plaiasu, IO Focsa, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 95-95, 2024
2024
Genetic susceptibility to prostate cancer biochemical recurrence after radical prostatectomy
A Pavel, D Stambouli, A Preda, I Gener, G Anton
EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 398-398, 2022
2022
Regions of homozygosity in prenatal investigation: to sequence or not to sequence?
AC Tutulan-Cunita, L Dimos, AG Pavel, FM Nedelea, A Naszan, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 112-112, 2022
2022
Whole exome sequencing in Romania-beginnings and challenges
A Tutulan-Cunita, F Nedelea, M Gica, N Usurelu, D Blanita, E Rentea, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1795-1795, 2019
2019
Minor ultrasonographic findings with major fetal chromosomal abnormalities in prenatal diagnosis
AG Pavel, A Ursuleanu, L Dimos, A Tutulan-Cunita, D Stambouli
EUROPEAN JOURNAL OF HUMAN GENETICS 27, 878-879, 2019
2019
Cauzele genetice ale avortului spontan precoce.
D Stambouli, M Becleanu, L Dimoș, A Pavel, A Tutulan-Cuniță
Medic. ro 121 (1), 2018
2018
Genomic imbalances identified by array CGH in cases with chromosomal mosaicisms
L Dimos, A Pavel, R Achim, F Nedelea, V Plaiasu, R Simion, D Stambouli
CHROMOSOME RESEARCH 23, S71-S71, 2015
2015
Our first results of targeted array CGH in prenatal diagnosis
A Pavel, L Dimos, F Nedelea, V Plaiasu, MR Simion, D Stambouli
International Congress of Geneticists and Breeders from the Republic of …, 2015
2015
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