Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Bushra Al Shamsi"'
Autor:
Amjad Khan, Bushra Al Shamsi, Maryam Al Shehhi, Amna A. Kashgari, Aaisha Al Balushi, Fahad A. Al Dihan, Mohannad A. Alghamdi, Abothnain Manal, Ana C. González‐Álvarez, Stefan T. Arold, Wafaa Eyaid
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)
Abstract Wiedemann‐Rautenstrauch Syndrome (WRS; MIM 264090) is an extremely rare and highly heterogeneous syndrome that is inherited in a recessive fashion. The patients have hallmark features such as prenatal and postnatal growth retardation, shor
Externí odkaz:
https://doaj.org/article/521377631e9948298f3bc24bd8fb8065
Publikováno v:
European journal of human genetics : EJHG. 30(8)
Mitochondrial flavin adenine dinucleotide (FAD) transporter deficiencies are new entities recently reported to cause a neuro-myopathic phenotype. We report three patients from two unrelated families who presented primarily with hypoketotic hypoglycem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e2737b6bffc11b8ab14fac43d0400ea
https://pubmed.ncbi.nlm.nih.gov/34764427
https://pubmed.ncbi.nlm.nih.gov/34764427
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