E-LIB Suche - Ergebnisse für: Sobreira, Nara

1

P224: Using long-read sequencing for genomic and epigenomic..:

Montano, Carolina ; Morina, Luke ; Wohler, Elizabeth..
Genetics in Medicine Open. 2 (2024) - p. 101121 , 2024

2

Whole genome sequencing as a first‐tier diagnostic test for..:

Migliavacca, Michele P. ; Sobreira, Joselito ; Bermeo, Diana...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024

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

3

Rare exonic CELSR3 variants identified in Bladder Exstrophy..:

Jelin, Angie C. ; Sopko, Nikolai ; Sobreira, Nara...
Frontiers in Genetics. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

4

P136: Phenotypic characterization and genetic interrogation..:

Mitchell, Shakela ; Wade, Kristina ; Stole, Caroline...
Genetics in Medicine Open. 2 (2024) - p. 101033 , 2024

Link: https://doi.org/10.1016/..

5

Identification and analyses of exonic and copy number varia..:

Shafique, Anum ; Nadeem, Ayesha ; Aslam, Faiza...
Scientific Reports. 14 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

6

The impact of the Turkish population variome on the genomic..:

Coban-Akdemir, Zeynep ; Song, Xiaofei ; Ceballos, Francisco C....
Genetics in Medicine Open. 2 (2024) - p. 101830 , 2024

Link: https://doi.org/10.1016/..

7

DataSheet1_Rare exonic CELSR3 variants identified in Bladde..:

Angie C. Jelin ; Nikolai Sopko ; Nara Sobreira...
doi:10.3389/fgene.2024.1266210.s001. , 2024

Link: https://doi.org/10.3389/..

8

Damaging Mutations in AFDN Contribute to Risk of Nonsyndrom..:

Awotoye, Waheed ; Mossey, Peter A ; Hetmanski, Jacqueline B...
https://discovery.dundee.ac.uk/en/publications/7f01798a-be17-4b45-8010-bffaa693026b. , 2024

Link: https://discovery.dundee..

9

Genetic testing in the evaluation of individuals with clini..:

Yeom, SangEun ; Cohen, Bernard ; Weiss, Clifford R....
American Journal of Medical Genetics Part A. 191 (2023) 4 - p. 983-994 , 2023

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

10

COL11A2 as a candidate gene for vertebral malformations and..:

Rebello, Denise ; Wohler, Elizabeth ; Erfani, Vida...
Human Molecular Genetics. , 2023

Link: https://doi.org/10.1093/..

11

P669: VariantMatcher: A tool to enable connections amongst ..:

Sobreira, Nara ; Griffith, Sean ; Antonescu, Corina...
Genetics in Medicine Open. 1 (2023) 1 - p. 100734 , 2023

Link: https://doi.org/10.1016/..

12

Exome Sequencing Reveals SLC4A11 Variant Underlying Congeni..:

Yousaf, Khazeema ; Naz, Sadaf ; Mushtaq, Asma...
Genes. 14 (2023) 2 - p. 310 , 2023

Link: https://doi.org/10.3390/..

13

Anxiety and dysautonomia symptoms in patients with a NaV1.7..:

de Cássia Collaço, Rita ; Lammens, Maxime ; Blevins, Carley...
Clinical Autonomic Research. 34 (2023) 1 - p. 191-201 , 2023

Link: https://doi.org/10.1007/..

14

Venous malformation may be a feature of EXT1‐related heredi..:

Albokhari, Daniah ; Bailey, Christopher R. ; Hwang, Francis...
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1570-1575 , 2023

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

15

A Brazilian case of IFAP syndrome with severe congenital ic..:

Migliavacca, Michele Patricia ; Fock, Rodrigo Ambrosio ; Almeida, Nadia...
Revista Paulista de Pediatria. 41 (2023) - p. , 2023

Link: https://doi.org/10.1590/..