E-LIB Suche - Ergebnisse für: Focșa, Ina Ofelia

1

Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort..:

Khan, Sheraz ; Focșa, Ina Ofelia ; Budișteanu, Magdalena...
American Journal of Medical Genetics Part A. 191 (2023) 9 - p. 2376-2391 , 2023

Link: https://doi.org/10.1002/..

2

A case of Bardet-Biedl syndrome caused by a recurrent varia..:

Focșa, Ina Ofelia ; Budișteanu, Magdalena ; Burloiu, Carmen...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8567465/. , 2021

Link: http://www.ncbi.nlm.nih...

3

Clinical and genetic heterogeneity of primary ciliopathies ..:

Focşa, Ina Ofelia ; Budişteanu, Magdalena ; Bălgrădean, Mihaela
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8354309/. , 2021

Link: http://www.ncbi.nlm.nih...

4

First-Tier Array CGH in Clinically Variable Entity Diagnosi..:

Budisteanu, Magdalena ; Tutulan-Cunita, Andreea ; Focsa, Ina Ofelia..
ISBN:978-1-78985-979-9. , 2019

Link: https://mts.intechopen.c..

5

The Impact of Next Generation Sequencing in Diagnosis and M..:

Ina-Ofelia FOCSA ; Andreea TUTULAN-CUNITA ; Anca PAVEL...
https://medicinamoderna.ro/wp-content/uploads/2022/09/The-Impact-of-Next-Generation-Sequencing-in-Diagnosis-and-Management-of-Rare-Diseases-Bloom-Syndrome.pdf. , 2022

Link: https://doi.org/10.31689..

6

Clinical Aspects of a Rare Disease: Bardet Biedl Syndrome:

Ina Ofelia FOCSA ; Magdalena BUDISTEANU ; Cristina STOICA...
https://medicinamoderna.ro/wp-content/uploads/2022/03/Clinical-Aspects-of-a-Rare-Disease-Bardet-Biedl-Syndrome.pdf. , 2022

Link: https://doi.org/10.31689..

7

Treatment of Epilepsy Associated with Common Chromosomal De..:

Budisteanu, Magdalena ; Jurca, Claudia ; Papuc, Sorina Mihaela...
Open Life Sciences. 15 (2020) 1 - p. 21-29 , 2020

Link: https://doi.org/10.1515/..