Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review by Wenjie Sun, Hong Yan, Mengxin Sun, Jie Wang, Kunxia Li

“…Further comprehensive evaluations, including CMA, should be conducted in conjunction with other genetic tests and detailed clinical examinations to accurately determine the underlying genetic causes.…”
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Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases by Hassan Khojasteh, Mohsen Azarmina, Nazanin Ebrahimiadib, Narsis Daftarian, Hamid Riazi-Esfahani, Houra Naraghi, Hamideh Sabbaghi, Alireza Khodabande, Hooshang Faghihi, Afrooz Moghaddasi, Fatemeh Bazvand, Masoud Reza Manaviat, Hamid Ahmadieh, Narges Hassanpoor, Fatemeh Suri

“…To describe ocular manifestations, imaging characteristics, and genetic test results of autosomal recessive bestrophinopathy (ARB). …”
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Trisomy 21 screening with αlpha software and the Fetal Medicine Foundation algorithm by L Pistorius, C A Cluver, I Bhorat, L Geerts

“…Data from the three largest laboratories collected between 2010 and 2015 were linked with genetic tests to assess screen positive and detection rates. …”
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Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder by Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, Henry H. C. Lee, Mariarita Bertoldi, Gabrielle E. McGinty, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K. Michael Gibson, Mustafa Sahin, Phillip L. Pearl

“…Methods SSADHD subjects underwent clinical evaluations, neuropsychological assessments, biochemical quantification of γ-aminobutyrate (GABA) and related metabolites, electroencephalography (standard and high density), magnetoencephalography, transcranial magnetic stimulation, magnetic resonance imaging and spectroscopy, and genetic tests. This was parallel to laboratory molecular investigations of in vitro GABAergic neurons derived from induced human pluripotent stem cells (hiPSCs) of SSADHD subjects and biochemical analyses performed on a versatile murine model that uses an inducible and reversible rescue strategy allowing on-demand and cell-specific gene therapy. …”
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Epidemiology of hereditary eye disease in the populations of Russian Federation by V.V. Kadyshev, E.K. Ginter, S.I. Kutsev, Zh.G. Oganezova, R.A. Zinchenko

“…The rate of segregation was evaluated using the Weinberg proband method. Molecular genetic tests (Sanger sequencing, MLPA, AFLP, RFLP, whole exome sequencing) were applied. …”
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