E-LIB Suche - Ergebnisse für: Wohler, Elizabeth

1

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/..

2

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

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

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

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

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/..

5

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/..

6

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/..

7

De novo variants identified by trio whole exome sequencing ..:

Jelin, Angie C. ; Wohler, Elizabeth ; Martin, Renan...
American Journal of Medical Genetics Part A. 194 (2023) 4 - p. , 2023

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

8

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/..

9

Mapping Genetic Susceptibility to Stenosis in the Proximal ..:

Sharif, Kayvon ; Tierney, William S. ; Davis, Ruth J....
The Laryngoscope. 133 (2023) 11 - p. 3049-3056 , 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

A Missense Variant in CASKIN1's Proline-Rich Region Segrega..:

Wahbeh, Marah H. ; Peng, Xi ; Bacharaki, Sofia...
Genes. 14 (2023) 1 - p. 177 , 2023

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

12

Human Leukocyte Antigen Genotyping of Idiopathic Subglottic..:

Rohlfing, Matthew L. ; Hillel, Alexander T. ; Wohler, Elizabeth...
The Laryngoscope. , 2023

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

13

Disruption of the HIF-1 pathway in individuals with Ollier ..:

Poll, Sarah R. ; Martin, Renan ; Wohler, Elizabeth...
PLOS Genetics. 18 (2022) 12 - p. e1010504 , 2022

Link: https://doi.org/10.1371/..

14

Expansion of the phenotypic and mutational spectrum of Carp..:

Khairat, Rabab ; Elhossini, Rasha ; Sobreira, Nara...
European Journal of Medical Genetics. 65 (2022) 1 - p. 104377 , 2022

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

15

Progressive liver, kidney, and heart degeneration in childr..:

Devane, John ; Ott, Elisabeth ; Olinger, Eric G....
The American Journal of Human Genetics. 109 (2022) 5 - p. 928-943 , 2022

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