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Filter by : Author Publication : journal of medical genetics

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Academic Journal

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.

Authors : Maroofian, Reza; Efthymiou, Stephanie; Suri, Mohnish

Source: Journal of Medical Genetics; Aug2023, Vol. 60 Issue 8, p791-796, 6p

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Academic Journal

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.

Authors : Buratti, Julien; Lei Ji; Keren, Boris

Source: Journal of Medical Genetics; Mar2021, Vol. 58 Issue 3, p205-212, 8p

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Academic Journal

Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.

Authors : Birnbaum R; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Ezer S

Subjects: Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Neurodevelopmental Disorders*; Humans

Source: Journal of medical genetics [J Med Genet] 2024 Feb 21; Vol. 61 (3), pp. 289-293. Date of Electronic Publication: 2024 Feb 21.Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN:

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