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  • 1-10 of  96 results for ""Monaghan KG""
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Academic Journal

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.

  • Authors : Yap ZY; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA.; Park YH

  • Source: Genome medicine [Genome Med] 2021 Apr 12; Vol. 13 (1), pp. 55. Date of Electronic Publication: 2021 Apr 12.Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X

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Academic Journal

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

  • Authors : van Woerden GM; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.

  • Source: Human mutation [Hum Mutat] 2021 Apr; Vol. 42 (4), pp. 445-459. Date of Electronic Publication: 2021 Mar 01.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG).

  • Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Mar 31. Date of Electronic Publication: 2021 Mar 31.Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG).

  • Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Mar 16. Date of Electronic Publication: 2021 Mar 16.Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

  • Authors : Radio FC; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; Pang K

  • Source: American journal of human genetics [Am J Hum Genet] 2021 Mar 04; Vol. 108 (3), pp. 502-516. Date of Electronic Publication: 2021 Feb 16.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.

  • Authors : Muir AM; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.; Gardner JF

  • Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jan 20. Date of Electronic Publication: 2021 Jan 20.Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

  • Source: Science advances [Sci Adv] 2020 Dec 02; Vol. 6 (49). Date of Electronic Publication: 2020 Dec 02 (Print Publication: 2020).Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Electronic-Print

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Academic Journal

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 Nov; Vol. 43 (6), pp. 1333-1348. Date of Electronic Publication: 2020 Aug 05.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665

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  • 1-10 of  96 results for ""Monaghan KG""