Results 131 to 140 of about 219,352 (339)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti +14 more
wiley +1 more source
Overview of the establishment of Shanghai twin birth cohort
Shanghai yufang yixueObjectiveTo establish the Shanghai twin birth cohort （STBC） and analyze the effects of genetic factors， shared environment， and non-shared environment interactions on birth health and growth and development of newborns.MethodsBased on the population-wide
JIN Shan +8 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales +13 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan +4 more
wiley +1 more source
Prophylactic mastectomy and hereditary breast cancer
Libri OncologiciIn the female population, breast cancer is the most common malignant disease. Breast cancers caused by mutations in the BRCA 1 and BRCA 2 genes are responsible for up to 10% of all cases.
Damir Grebić, Marta Šiljeg
doaj +1 more source
PERJUANGAN GENDER DALAM FILM INDONESIA (ANALISIS SEMIOTIKA PADA FILM GADIS KRETEK) [PDF]
Sabilah Miftakhul Rizki, 20201004011407, "Gender Struggle in Indonesian Films (Semiotic Analysis in the Kretek Girl Film)", January – April 2024 Edition. Thesis 80 pages : 34 references, Pembimbing: Rahadi, M.Si.
Rizki, Sabilah
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