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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

• Authors : Palmer, Elizabeth E; Pusch, Michael; Picollo, Alessandra ...

Subjects: Male; Female; Humans

• Source: ISSN: 1359-4184.

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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

• Authors : Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra ...

Subjects: [SDV]Life Sciences [q-bio]

• Source: ISSN: 2041-1723.

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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

• Authors : Sommer, Anna Katharina; Paske, Iris Te; Dizjikan, Farid Yavari ...

Subjects: [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]

• Source: ISSN: 1018-4813.

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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

• Authors : Zurek, Birte; Ellwanger, Kornelia; Vissers, Lisenka E. L. M.

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Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy ; Definování diagnostických mezních hodnot u neurologických pacientů pro sérové mastné kyseliny s velmi dlouhým řetězcem (VLCFA) v geneticky potvrzené X-adrenoleukodystrofii

• Authors : Rattay, Tim W; Rautenberg, Maren; Soehn, Anne S

Subjects: linked adrenoleukodystrophy; plasma; mutations

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Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

• Authors : Kuechler, Alma; Czeschik,, Johanna; Graf, Elisabeth ...

Subjects: bohring-opitz syndrome; novo frameshift mutation; intellectual disability

• Source: ISSN: 1018-4813.

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Definování diagnostických mezních hodnot u neurologických pacientů pro sérové mastné kyseliny s velmi dlouhým řetězcem (VLCFA) v geneticky potvrzené X-adrenoleukodystrofii

• Authors : Rattay, Tim W.; Rautenberg, Maren; Haack, Tobias B.

Subjects: Adult; Male; Genetics of the nervous system

• Source: Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)Scientific ReportsSci. Rep. 10:15093 (2020)Scientific reports 10(1), 15093 (2020). doi:10.1038/s41598-020-71248-8

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A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.

• Authors : Oláhová M; Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.; Haack TB

Subjects: Mutation*; Acidosis, Lactic/Acidosis, Lactic/Acidosis, Lactic/*genetics ; Cytochrome-c Oxidase Deficiency/Cytochrome-c Oxidase Deficiency/Cytochrome-c Oxidase Deficiency/*genetics Lactic Acidosis, Fatal Infantile

• Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Jul; Vol. 23 (7), pp. 935-9. Date of Electronic Publication: 2014 Oct 08.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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