Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Nadia Al-Hashmi"'
Autor:
Azza AL Shidhani, Abdulhamid Al Hinai, Khalid Al Thihli, Hilal Al Mandhari, Saif Al Yaarubi, Irfan Ullah, Nadia Al-Hashmi, Fathiya Al Murshedi
Publikováno v:
JCRPE, Vol 15, Iss 3, Pp 302-306 (2023)
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. CHI is a challenging disease to diagnose and manage. Moreover, complicating the course of the disease with another metabolic disease, in this case maple
Externí odkaz:
https://doaj.org/article/b93e38432f414d1fa2dbedc976e80aa5
Autor:
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 6, Iss 1, Pp 41-56 (2023)
Acid sphingomyelinase deficiency (ASMD) is an autosomal-recessive progressive multiorgan metabolic disorder due to pathogenic variants in the sphingomyelin phosphodiesterase 1 gene. It can lead to death in early childhood in its most severe form. Acc
Externí odkaz:
https://doaj.org/article/9bc418cf35514541a8bc86a2a5233e2d
Publikováno v:
Case Reports in Genetics, Vol 2018 (2018)
The autosomal recessive cerebellar ataxias (ARCA) affect both the central and the peripheral nervous systems. They are also characterized by a relatively high level of genetic heterogeneity with well over 40 genes already implicated. The present stud
Externí odkaz:
https://doaj.org/article/2d9345b648454b5ab8713a1768179b24
Autor:
Zuhair Al-Hassnan, Nadia Al Hashmi, Nawal Makhseed, Tawfeg Ben Omran, Fatma Al Jasmi, Amal Al Teneiji
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background: Infantile-onset Pompe disease (IOPD) is a rare and devastating, autosomal recessive lysosomal storage disorder that manifests immediately after birth. In severe IOPD cases, complete/almost-complete acid alpha-glucosidase enzyme d
Externí odkaz:
https://doaj.org/article/e859faceb66d42f08e5e6c4cd211fccf
Autor:
Mohamed S. Al Riyami, Intisar Al Alawi, Badria Al Gaithi, Anisa Al Maskari, Naifain Al Kalbani, Nadia Al Hashmi, Aisha Al Balushi, Maryam Al Shahi, Suliman Al Saidi, Muna Al Bimani, Fahad Al Hatali, Holly Mabillard, John A. Sayer
Publikováno v:
Molecular Genetics & Genomic Medicine.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::41d776fff5cbbc95bc92729b0531395d
https://doi.org/10.1002/mgg3.2201
https://doi.org/10.1002/mgg3.2201
Autor:
Abdulhamid Al‐Hinai, Samiya Al‐Hashmi, Anuradha Ganesh, Nadia Al‐Hashmi, Abeer Al‐Saegh, Watfa Al‐Mamari, Fathiya Al‐Murshedi, Khalid Al‐Thihli, Adila Al‐Kindi, Almundher Al‐Maawali
Publikováno v:
American Journal of Medical Genetics Part A. 188:2485-2490
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b0bf8f52fcbe3b2aeca81e976f4c39e
https://doi.org/10.1002/ajmg.a.62778
https://doi.org/10.1002/ajmg.a.62778
Autor:
Aaisha Al Balushi, Mariya Al Hinai, Alya Al Hosni, Fatima Al Amrani, Ashwaq Al Maimani, Nabil Al Maki, Nadia Al Hashmi
Publikováno v:
Journal of Pediatric Genetics.
Distal arthrogryposis with impaired proprioception and touch (DAIPT) is an autosomal recessive neurogenetic disorder caused by homozygous pathogenic variants in the PIEZO2 gene. Here we present four Omani families with multiple affected members with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::446f6da8ddc8fa7e7bd3c9ec6785d703
https://doi.org/10.1055/s-0043-1764127
https://doi.org/10.1055/s-0043-1764127
Autor:
Brahim Tabarki, Malak Alghamdi, Fuad Al Mutairi, Arndt Rolfs, Zuhair N. Al-Hassnan, Najim Ameziane, Aida M. Bertoli-Avella, Abdulrahman Alswaid, Anika Leubauer, Huma Arshad Cheema, Fowzan S. Alkuraya, Suliman Khan, Mohammed AlBalwi, Lihadh Al-Gazali, Oana Moldovan, Wafaa Eyaid, Ahmed Alfares, Vasiliki Karageorgou, Nouriya Al-Sannaa, Alize Urzi, Patrícia Dias, Majid Alfadhel, Amal Alhashem, Nadia Al Hashmi, Krishna Kumar Kandaswamy, Kornelia Tripolszki, Peter Bauer, Fatemeh Hadipour, Irina Hüning, Ruslan Al-Ali, Maha S. Zaki, Maria Eugenia Rocha, Natalia Ordonez-Herrera, Zahra Hadipour, Aisha M. Al-Shamsi, Christian Beetz, Ronja Hotakainen
Publikováno v:
Genetics in Medicine
Purpose Within this study, we aimed to discover novel gene–disease associations in patients with no genetic diagnosis after exome/genome sequencing (ES/GS). Methods We followed two approaches: (1) a patient-centered approach, which after routine di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d4b62d3053eb8cc2a55af978d72b485
https://doi.org/10.1038/s41436-021-01159-0
https://doi.org/10.1038/s41436-021-01159-0
Publikováno v:
Journal of Biochemical and Clinical Genetics. :51-55
Background: Ethylmalonic encephalopathy (EE) is a devastating early-onset inborn error of metabolism, and heterogenous disorders manifest as chronic diarrhea, petechial rash, and neurological manifestations. The mutation in the ETHE1 gene leads to hy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d3de71a50dab81dcd3d3b948255d4832
https://doi.org/10.24911/jbcgenetics/183-1603099467
https://doi.org/10.24911/jbcgenetics/183-1603099467
Autor:
Zandré Bruwer, Salwa Al Ubaidani, Khalsa Al Kharusi, Fathiya Al Murshedi, Almundher Al-Maawali, Abeer Al Sayegh, Adila Al Kindy, Nihal Al Riyami, Tamima Al Dughaishi, Mouza Al Salmani, Nadia Al Hashmi, Maryam Al Shehhi, Badriya Al Fahdi, Sumaya Al Amri, Khalid Al-Thihli
Publikováno v:
Journal of community genetics. 13(3)
Studies on the acceptance of prenatal diagnosis and termination of pregnancy for single gene disorders within Islamic societies in the Middle East are limited. A few have examined the attitudes toward pregnancy termination for fetal indications, but
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d9cb39c8b258999484d5b3b6c3d12a7
https://pubmed.ncbi.nlm.nih.gov/35179721
https://pubmed.ncbi.nlm.nih.gov/35179721