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1 . Academic Journal
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
저자
by
Iruzubieta, Pablo
;
Damborenea, Alberto
;
Ioghen, Mihaela
;
Bajew, Simon
;
Fernandez-Torrón, Roberto
, et al.
소스
Brain: A Journal of Neurology
. Aug2024, Vol. 147 Issue 8, p2867-2883. 17p.
Full Text (OUP)
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7 . Academic Journal
Connecting the Dots: FGF21 as a Potential Link between Obesity and Cardiovascular Health in Acute Coronary Syndrome Patients.
저자
by
Negroiu, Cristina Elena
;
Riza, Anca-Lelia
;
Streață, Ioana
;
Tudorașcu, Iulia
;
Beznă, Cristina Maria
, et al.
소스
Current Issues in Molecular Biology; Aug2024, Vol. 46 Issue 8, p8512-8525, 14p
Web of Science
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7 . Academic Journal
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
저자
by
Nashabat, Marwan
;
Nabavizadeh, Nasrinsadat
;
Saraçoğlu, Hilal Pırıl
;
Sarıbaş, Burak
;
Avcı, Şahin
, et al.
소스
Nature Communications
. 15(1)
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7 . Academic Journal
Serum Amino Acid Profiling in Children with Autistic Spectrum Disorder: Insights from a Single-Center Study in Southern Romania.
저자
by
Anastasescu, Cătălina Mihaela
;
Gheorman, Veronica
;
Popescu, Florica
;
Stoicănescu, Eugen-Cristi
;
Gheorman, Victor
, et al.
소스
Healthcare (2227-9032); Sep2023, Vol. 11 Issue 18, p2487, 18p
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7 . Academic Journal
miR-499a rs3746444 A>G Polymorphism Is Correlated with Type 2 Diabetes Mellitus and Diabetic Polyneuropathy in a Romanian Cohort: A Preliminary Study.
저자
by
Burada, Emilia
;
Roșu, Maria-Magdalena
;
Sandu, Raluca Elena
;
Burada, Florin
;
Cucu, Mihai Gabriel
, et al.
소스
Genes
. Aug2023, Vol. 14 Issue 8, p1543. 11p.
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7 . Academic Journal
Genetic Testing for Familial Hypercholesterolemia in a Pediatric Group: A Romanian Showcase.
저자
by
Constantin, Andreea Teodora
;
Streata, Ioana
;
Covăcescu, Mirela Silvia
;
Riza, Anca Lelia
;
Roșca, Ioana
, et al.
소스
Diagnostics (2075-4418)
. Jun2023, Vol. 13 Issue 12, p1988. 14p.
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7 . Academic Journal
The Role of Vitamin D in Obese Children with Non-Alcoholic Fatty Liver Disease and Associated Metabolic Syndrome.
저자
by
Stepan, Mioara Desdemona
;
Vintilescu, Ștefănița Bianca
;
Streață, Ioana
;
Podeanu, Mihaela Andreea
;
Florescu, Dan Nicolae
.
소스
Nutrients; May2023, Vol. 15 Issue 9, p2113, 21p
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7 . Academic Journal
PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania.
저자
by
Iuhas, Alin
;
Jurca, Claudia
;
Kozma, Kinga
;
Riza, Anca-Lelia
;
Streață, Ioana
, et al.
소스
Diagnostics (2075-4418)
. Apr2023, Vol. 13 Issue 8, p1483. 10p.
Web of Science
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7 . Academic Journal
Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome.
저자
by
Papuc, Sorina Mihaela
;
Erbescu, Alina
;
Glangher, Adelina
;
Streata, Ioana
;
Riza, Anca-Lelia
, et al.
소스
Genes
. Feb2023, Vol. 14 Issue 2, p327. 11p.
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7 . Academic Journal
First Trimester Ultrasound Detection of Fetal Central Nervous System Anomalies.
저자
by
Ungureanu, Delia Roxana
;
Drăgușin, Roxana Cristina
;
Căpitănescu, Răzvan Grigoraș
;
Zorilă, Lucian
;
Ofițeru, Anca Maria Istrate
, et al.
소스
Brain Sciences (2076-3425)
. Jan2023, Vol. 13 Issue 1, p118. 18p.
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