Elizabeth Wohler
7PUBLICATIONS
37CO-AUTHORS
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Publications (7)
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|Jun 21, 2024
Identification and analyses of exonic and copy number variants in spastic paraplegia.Anum Shafique, Ayesha Nadeem, Faiza Aslam
|Apr 12, 2023
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.Michele Patricia Migliavacca, Rodrigo Ambrosio Fock, Nadia Almeida
|Feb 25, 2023
Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma.Khazeema Yousaf, Sadaf Naz, Asma Mushtaq
|Jan 21, 2023
A Missense Variant in CASKIN1's Proline-Rich Region Segregates with Psychosis in a Three-Generation Family.Marah H Wahbeh, Xi Peng, Sofia Bacharaki
|Dec 08, 2022
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.Sarah R Poll, Renan Martin, Elizabeth Wohler
|Jul 02, 2021
Germline ERBB2/HER2 Coding Variants Are Associated with Increased Risk of Myeloproliferative Neoplasms.Evan M Braunstein, Hang Chen, Felicia Juarez
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Frequent Collaborators
2 joint publications
Nara Sobreira
2 joint publications
Sadaf Naz
1 joint publications
Fabiana L Motta
1 joint publications
Fernanda B O Porto
1 joint publications
Juliana M F Sallum
1 joint publications
Theodoros Karantanos
1 joint publications
Christopher D Gocke
1 joint publications
Alison R Moliterno
1 joint publications
P Dane Witmer
1 joint publications
Renan Martin
