Onderzoeker
Basamat Almoallem Mohammed H
- Disciplines:Pediatrie en neonatologie, Moleculaire en celbiologie, Systeembiologie, Verpleegkunde, Genetica
Affiliaties
- Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf19 apr 2012 → 23 sep 2018
Publicaties
1 - 10 of 16 results
- Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement(2020)
Auteurs: Sabrina Mechaussier, Basamat Almoallem Mohammed H, Christina Zeitz, Kristof Van Schil, Laila Jeddawi, Jo Van Dorpe, Alfredo Dueñas Rey, Christel Condroyer, Olivier Pelle, Michel Polak, et al.
Pagina's: 859 - 871 - The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56(2020)
Auteurs: Basamat Almoallem Mohammed H, Gavin Arno, Julie De Zaeytijd, Hannah Verdin, Irina Balikova, Ingele Casteels, Thomy de Ravel, Sarah Hull, Martina Suzani, Anne Destrée, et al.
Aantal pagina's: 1 - Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus(2019)
Auteurs: Anja K. Mayer, Muhammad Mahajnah, Mervyn G. Thomas, Yuval Cohen, Adib Habib, Martin Schulze, Gail D. E. Maconachie, Basamat Almoallem Mohammed H, Elfride De Baere, Birgit Lorenz, et al.
Pagina's: 1528 - 1534 - Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene(2017)Volume: 58
Auteurs: Basamat Almoallem Mohammed H, Kristof Van Schil, Laila Jeddawi, Bart Leroy, Frauke Coppieters, Elfride De Baere
Pagina's: 1242 - 1242 - Unraveling the molecular basis genetically heterogeneous developmental eye disorders(2017)
Auteurs: Basamat Almoallem Mohammed H
Pagina's: 227 p. - Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis(2016)
Auteurs: Basamat Almoallem Mohammed H, Gavin Arno, Julie De Zaeytijd, Sarah Hull, Martina Suzani, Thomy JL de Ravel, Andrew Webster, Bart Leroy, Tony Moore, Elfride De Baere
Aantal pagina's: 1 - Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis(2016)
Auteurs: Basamat Almoallem Mohammed H, Gavin Arno, Julie De Zaeytijd, Sarah Hull, Martina Suzani, Thomy JL de Ravel, Andrew Webster, Bart Leroy, Tony Moore, Elfride De Baere
Aantal pagina's: 1 - Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis(2016)Volume: 57
Auteurs: Basamat Almoallem Mohammed H, Gavin Arno, Julie De Zaeytijd, Sarah Hull, Martina Suzani, Thomy JL de Ravel, Andrew Webster, Bart Leroy, Tony Moore, Elfride De Baere
Aantal pagina's: 1 - Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis(2016)
Auteurs: Basamat Almoallem Mohammed H, Gavin Arno, Julie De Zaeytijd, Sarah Hull, Martina Suzani, Thomy JL de Ravel, Andrew Webster, Bart Leroy, Tony Moore, Elfride De Baere
Aantal pagina's: 1 - The power of homozygosity mapping-guided whole exome sequencing in a Saudi LCA population(2016)
Auteurs: Basamat Almoallem Mohammed H
Aantal pagina's: 1