Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Khalsa Al-Kharusi"'
Autor:
Ghalia Al-Kasbi, Fathiya Al-Murshedi, Adila Al-Kindi, Nadia Al-Hashimi, Khalid Al-Thihli, Abeer Al-Saegh, Amna Al-Futaisi, Watfa Al-Mamari, Abdullah Al-Asmi, Zandre Bruwer, Khalsa Al-Kharusi, Samiya Al-Rashdi, Fahad Zadjali, Said Al-Yahyaee, Almundher Al-Maawali
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract Global Developmental Delay/Intellectual disability (ID) is the term used to describe various disorders caused by abnormal brain development and characterized by impairments in cognition, communication, behavior, or motor skills. In the past
Externí odkaz:
https://doaj.org/article/97e903173bd84d2a861231bfdf46c280
Publikováno v:
Oman Medical Journal, Vol 31, Iss 3, Pp 227-230 (2016)
Charcot-Marie-Tooth neuropathy type 4B1 (CMT4B1) disease is a rare subtype of CMT4 with reported association of facial weakness, vocal cord paresis, chest deformities, and claw hands. We report the unusual occurrence of optic neuritis and cervical co
Externí odkaz:
https://doaj.org/article/447cd2bb9eac469bb1ef7adccb77835f
Publikováno v:
Journal of Genetic Counseling. 30:121-131
Preimplantation genetic testing (PGT) is an alternative reproductive technology integrated with in vitro fertilization (IVF). It is a well-established technique offering a reproductive option for families at a high risk of transmitting a genetic diso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2636968bab413e1013a34afda42c9ffe
https://doi.org/10.1002/jgc4.1300
https://doi.org/10.1002/jgc4.1300
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
Autor:
Khalsa Al-Kharusi, Adila Al-Kindi, Zandre Bruwer, Bushra Al-Shamsi, Ghalia Al-Kasbi, Almundher Al-Maawali
Publikováno v:
European journal of medical genetics. 65(1)
Bilateral renal agenesis belongs to a group of perinatal lethal renal diseases. To date, pathogenic variants in three genes (ITGA8, GREB1L, and FGF20) have been shown to cause renal agenesis in humans. Recently GFRA1 has been linked to a phenotype co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::331ef5d7f72e88f53da00cfee7882e42
https://pubmed.ncbi.nlm.nih.gov/34737117
https://pubmed.ncbi.nlm.nih.gov/34737117
Autor:
Joachim Füllekrug, Ghalia Al-Kasbi, Mohammed Mohammed, Nadia Al-Hashmi, Uta Merle, Svenja Sliwinski, Cassian Afting, Khalid Al-Thihli, Khalsa Al-Kharusi, Almundher Al-Maawali, Naema Al‐Shibli, Khoula Al-Said
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1065fe70b9efc1b49c1afb960f4d5f55
https://doi.org/10.1111/cge.13883/v2/response1
https://doi.org/10.1111/cge.13883/v2/response1
Autor:
Nadia Al-Hashmi, Naema Al Shibli, Svenja Sliwinski, Khoula Al-Said, Joachim Füllekrug, Ghalia Al-Kasbi, Uta Merle, Mohammed Mohammed, Almundher Al-Maawali, Cassian Afting, Khalid Al-Thihli, Khalsa Al-Kharusi
Publikováno v:
Clinical geneticsREFERENCES. 99(3)
Failure to thrive (FTT) causes significant morbidity, often without clear etiologies. Six individuals of a large consanguineous family presented in the neonatal period with recurrent vomiting and diarrhea, leading to severe FTT. Standard diagnostic w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c33c15f89db5f996cdd9ef25dc78182d
https://pubmed.ncbi.nlm.nih.gov/33191500
https://pubmed.ncbi.nlm.nih.gov/33191500
Autor:
Zandre Bruwer, Nihal Al Riyami, Fathiya Al Murshedi, Douja Meftah, Adila Al Kindy, Naeema Al Yarubi, Khalsa Al Kharusi, Khalid Al-Thihli, Amel Al Foori, Abeer Al Sayegh, Patrick Scott, Tamima Al Dughaishi
Publikováno v:
Journal of Perinatal Medicine. 46:968-974
Objective: The purpose of this study was to determine the frequency of non-immune hydrops fetalis (NIHF) among all pregnancies referred for prenatal care at Sultan Qaboos University Hospital (SQUH) during the study period and to evaluate the underlyi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3582dad59b26ba48229449985d56e728
https://doi.org/10.1515/jpm-2017-0124
https://doi.org/10.1515/jpm-2017-0124
Publikováno v:
Oman Medical Journal, Vol 31, Iss 3, Pp 227-230 (2016)
Charcot-Marie-Tooth neuropathy type 4B1 (CMT4B1) disease is a rare subtype of CMT4 with reported association of facial weakness, vocal cord paresis, chest deformities, and claw hands. We report the unusual occurrence of optic neuritis and cervical co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65fbab02a7c33108c7f9f8fdf72567bd
http://www.omjournal.org/fultext_PDF.aspx?DetailsID=766&pdf=images/766_M_Deatials_Pdf_.pdf&type=pdf
http://www.omjournal.org/fultext_PDF.aspx?DetailsID=766&pdf=images/766_M_Deatials_Pdf_.pdf&type=pdf
Autor:
Jacob P, Chacko, Shanmugakonar, Muralitharan, Alia, Al-Ansari, Khalsa, Al-Kharusi, Abdullah, Al-Asmi, Chand R, Pratap, Riad, Bayoumi
Publikováno v:
Neurosciences (Riyadh, Saudi Arabia). 10(1)
To explore the profile of cytosine/adenine/guanine (CAG) repeat expansion in Omani spinocerebellar ataxia (SCA) patients.Ten SCA patients attending the Sultan Qaboos University Hospital Neurologic clinics, Al-Khoud, Oman in the 3 years starting from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9886fb59c5db446482ec59ac0d95cd7d
https://pubmed.ncbi.nlm.nih.gov/22473187
https://pubmed.ncbi.nlm.nih.gov/22473187