Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Haya Al-Dossari"'
Autor:
Salma M. Wakil, Safa Alhissi, Haya Al Dossari, Ayesha Alqahtani, Sherin Shibin, Brahim T. Melaiki, Josef Finsterer, Amal Al-Hashem, Saeed Bohlega, Anas M. Alazami
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
Abstract Background Mutations in ARL6IP1, which encodes a tetraspan membrane protein localized to the endoplasmic reticulum (ER), have been recently described in a large family with a complicated form of hereditary spastic paraplegia (HSP). Case pres
Externí odkaz:
https://doaj.org/article/71bceb16ca6a4a7f80e01f6087f9cb35
Autor:
Anas M. Alazami, Amal Alhashem, Ayesha Alqahtani, Saeed Bohlega, Sherin Shibin, Safa Alhissi, Brahim T. Melaiki, Haya Al Dossari, Josef Finsterer, Salma M. Wakil
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
Background Mutations in ARL6IP1, which encodes a tetraspan membrane protein localized to the endoplasmic reticulum (ER), have been recently described in a large family with a complicated form of hereditary spastic paraplegia (HSP). Case presentation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ef2c1f634c76de25fc5d0309b1163e4
http://europepmc.org/articles/PMC6610916
http://europepmc.org/articles/PMC6610916
Autor:
Rula Al Thuraya, Ola Khalifa, Haya Al-Dossari, Salma M. Wakil, Mohammed Al Owain, Yousef Binamer, Rawan Al-Humaidy, Josef Finsterer, Brian F. Meyer
Publikováno v:
International Journal of Dermatology. 55:673-679
Background Autosomal recessive congenital ichthyosis (ARCI) is a rare disorder of keratinization. Infants (10–15%) born with this condition are encapsulated in hyperkeratotic membrane covering the entire body and are called “collodion babies.”
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5618a7d3cf156d5a53628d979093ba5
https://doi.org/10.1111/ijd.13279
https://doi.org/10.1111/ijd.13279
Autor:
Mais Hashem, Fahad A. Bashiri, Amal Y. Kentab, Heba Y. El Khashab, Salma M. Wakil, Samya Hagos, Sarah M. Al-Qattan, Ranad Shaheen, Namik Kaya, Anas M. Alazami, Mohammed N. Al-Nasser, Shamsa Anazi, Haya Al-Dossari, Hanan E. Shamseldin, Nisha Patel, Fowzan S. Alkuraya, Mustafa A. Salih
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 17(9)
Molecular karyotyping has rapidly become the test of choice in patients with neurocognitive phenotypes, but studies of its clinical utility have largely been limited to outbred populations. In consanguineous populations, single-gene recessive causes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab580a3591b2da58dc2c661e38d9ba7e
https://pubmed.ncbi.nlm.nih.gov/25503496
https://pubmed.ncbi.nlm.nih.gov/25503496
Autor:
Hatem N. Murad, Aziza Chedrawi, Khushnooda Ramzan, Zuhair N. Al-Hassnan, Rula Abuthuraya, Haya Al-Dossari, Rana Alomar, Samya Hagos, Saeed Bohlega, Salma M. Wakil, Josef Finsterer
Publikováno v:
Gene. 536(1)
Recessive mutations in the alsin gene cause three clinically distinct motor neuron diseases: juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis (JPLS) and infantile-onset ascending hereditary spastic paraplegia (IAHSP).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3af43cee85200ed9c633ae29f7a6fec1
https://pubmed.ncbi.nlm.nih.gov/24315819
https://pubmed.ncbi.nlm.nih.gov/24315819
Autor:
Batoul Baz, Khushnooda Ramzan, Salma M. Wakil, Saeed Bohlega, Samya Hagos, Zuhair N. Al-Hassnan, Haya Al Dossari
Publikováno v:
European journal of medical genetics. 56(1)
Hereditary Spastic Paraplegias (HSP) encompass a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by insidiously progressive weakness and spasticity of the lower extremities. We describe a consanguineous Sau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec673f60a6e0b558eca02e54db408286
https://pubmed.ncbi.nlm.nih.gov/23085305
https://pubmed.ncbi.nlm.nih.gov/23085305