Leri-Weill Dyschondrosteosis Syndrome: Analysis via 3DCT Scan

by Ali Al Kaissi, Mohammad Shboul, Vladimir Kenis, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
Published 2019-05-01

Massive Axial and Appendicular Skeletal Deformities in Connection with Gorham-Stout Syndrome

by Ali Al Kaissi, Sami Bouchoucha, Mohammad Shboul, Vladimir Kenis, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
Published 2019-05-01

The snRNA-processing complex, Integrator, is required for ciliogenesis and dynein recruitment to the nuclear envelope via distinct mechanisms

by Jeanne N. Jodoin, Mohammad Shboul, Todd R. Albrecht, Ethan Lee, Eric J. Wagner, Bruno Reversade, Laura A. Lee
Published 2013-11-01

The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study

by Mohammad Shboul, Hela Sassi, Houweyda Jilani, Imen Rejeb, Yasmina Elaribi, Syrine Hizem, Lamia Ben Jemaa, Marwa Hilmi, Susanna Gerit Kircher, Ali Al Kaissi
Published 2021-02-01

Infantile systemic hyalinosis: Variable grades of severity

by Ali Al Kaissi, Marwa Hilmi, Zulfiya Betadolova, Sami Bouchoucha, Svetlana Trofimova, Mohammad Shboul, Guseyn Rustamov, Wiam Dwera, Katharina Sigl, Vladimir Kenis, Susanne Gerit Kircher
Published 2021-01-01

Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article

by Ali Al Kaissi MD, MSc, Vladimir Kenis MD, PhD, Mohammad Shboul PhD, Franz Grill MD, Rudolf Ganger MD, PhD, Susanne Gerit Kircher MD, MSc
Published 2020-03-01

Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization

by Corey J. Cain, Nathalie Gaborit, Wint Lwin, Emilie Barruet, Samantha Ho, Carine Bonnard, Hanan Hamamy, Mohammad Shboul, Bruno Reversade, Hülya Kayserili, Benoit G. Bruneau, Edward C. Hsiao
Published 2016-12-01

Clinical and Genetic Heterogeneity in Six Tunisian Families With Horizontal Gaze Palsy With Progressive Scoliosis: A Retrospective Study of 13 Cases

by Sami Bouchoucha, Sami Bouchoucha, Asma Chikhaoui, Dorra Najjar, Hamza Dallali, Maleke Khammessi, Sonia Abdelhak, Nabil Nessibe, Mohammad Shboul, Susanne G. Kircher, Ali Al Kaissi, Ali Al Kaissi, Houda Yacoub-Youssef
Published 2020-04-01

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

by Poh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F Nelson, William H Xie, Samah Al-Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A Pouladi, Mohammed Al-Raqad, Bruno Reversade
Published 2018-05-01

Long-Term Culture of Self-renewing Pancreatic Progenitors Derived from Human Pluripotent Stem Cells

by Jamie Trott, Ee Kim Tan, Sheena Ong, Drew M. Titmarsh, Simon L.I.J. Denil, Maybelline Giam, Cheng Kit Wong, Jiaxu Wang, Mohammad Shboul, Michelle Eio, Justin Cooper-White, Simon M. Cool, Giulia Rancati, Lawrence W. Stanton, Bruno Reversade, N. Ray Dunn
Published 2017-06-01