Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Aiman Shawli"'
Autor:
Mansour Al Qurashi, Ahmed Mustafa, Syed Sameer Aga, Abrar Ahmad, Abdellatif El-Farra, Aiman Shawli, Mohammed Al Hindi, Mohammed Hasosah
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-9 (2022)
Abstract Background Of the many types of mitochondrial diseases, mutations affecting BCS1L gene are regarded as chief cause of the defective mitochondrial complex-III, affecting normal mitochondrial functioning, and leading to wide variety of phenoty
Externí odkaz:
https://doaj.org/article/6797a8091da84c42802e1a9290a04e83
Publikováno v:
Pediatric Reports, Vol 10, Iss 2 (2018)
Systemic primary carnitine deficiency (SPCD) is an autosomal recessive inborn error of fatty acid metabolism caused by a defect in the transporter responsible for moving carnitine across plasma membrane. The clinical features of SPCD vary widely base
Externí odkaz:
https://doaj.org/article/4092b1c6f7814c30bb1f99af8cde20cf
Publikováno v:
NeoReviews; Oct2024, Vol. 25 Issue 10, p656-659, 4p
Publikováno v:
International Journal of Pediatrics and Adolescent Medicine. 9:143-146
A full-term male infant born from consanguineous Saudi parents, with one other live child, is suspected to have skeletal dysplasia on a fetal anomaly scan. Clinical findings at birth included short stature, bowed long bone affecting the lower limbs m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5abf90ff5ef75f32ef0c827a6d8e3c7e
https://doi.org/10.1016/j.ijpam.2021.10.002
https://doi.org/10.1016/j.ijpam.2021.10.002
Publikováno v:
Cureus.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4108e4d2fb1715de3bb70af73eadf530
https://doi.org/10.7759/cureus.24561
https://doi.org/10.7759/cureus.24561
Publikováno v:
Cureus
The most benign cardiac tumor in the pediatric population is cardiac rhabdomyoma. They are known to be associated with tuberous sclerosis complex. Here we report a case with multiple cardiac rhabdomyomas and another rare anomaly of the heart known as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2882aa02cd9d902cec1eb9b63a0f7473
http://europepmc.org/articles/PMC8712222
http://europepmc.org/articles/PMC8712222
Autor:
Ahad AlHarthi, Rahaf Waggass, Mawaddah Hussain, Elaf M Abduljawad, Samah A AlMatrafi, Aiman Shawli
Publikováno v:
Cureus
Background Congenital heart diseases (CHDs) are abnormalities that present in the heart since birth and are one of the leading causes of infant mortality in the world. CHDs are more common among children with dysmorphic syndromes. The current study a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b78c701e773168f33e3dce102354cc8
https://doi.org/10.7759/cureus.7891
https://doi.org/10.7759/cureus.7891
Publikováno v:
Cureus
PIK3CA-related overgrowth spectrum (PROS) is an umbrella that includes a broad range of rare disorders, ranging from isolated digit enlargement to extensive overgrowth of the limbs, abdomen, or brain. One of these disorders is megalencephaly capillar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::564478f524baa523b63ef393f69297ab
https://doi.org/10.7759/cureus.6586
https://doi.org/10.7759/cureus.6586
Publikováno v:
Cureus
Papillon-Lefèvre syndrome (PLS) is a rare genetic disease that causes dermatological and dental symptoms that usually start from early age. Dermatological findings include hyperkeratoderma over the palms and soles that are usually thought of as pers
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::131d02cf05c1612331354e26e9b9306e
https://doi.org/10.7759/cureus.6546
https://doi.org/10.7759/cureus.6546
Autor:
Hanadi A. Abdelrahman, Arndt Rolfs, Fahad Al-Hakami, L.I. Al-Gazali, Nouriya Al-Sannaa, Aida M. Bertoli-Avella, Peter Bauer, Halenur Yavuz, A.A. Elmonairy, A.M. Al Shamsi, Aiman Shawli, Seham Alameer, Krishna Kumar Kandaswamy, Oliver Brandau, Majid Alfadhel, Khalid Al-Thihli, Caterina Baldi
Publikováno v:
Clinical Genetics. 93:1087-1092
Hypomyelinating leukodystrophies (HLDs) affect the white matter of the central nervous system and manifest as neurological disorders. They are genetically heterogeneous. Very recently, biallelic variants in NKX6-2 have been suggested to cause a novel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c65963b90f6258bee2378d623a201e7
https://doi.org/10.1111/cge.13221
https://doi.org/10.1111/cge.13221