Kuś J scite author profile

We report a case of a 19‐year‐old male with the cardinal features of the Kabuki syndrome (KS) and, in addition, with severe immunodeficiency. Finding immune deficiency in a KS patient, prompted us to determine whether this association was related to a deletion within the DiGeorge chromosomal region. Fluorescence in situ hybridization (FISH) with the Oncor probe N25(D22S75) revealed no deletion of 22q11.2 in the patient.

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Coal weathering and laboratory (artificial) coal oxidation

Misz‐Kennan

Iccp³

2017

International Journal of Coal Geology

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Kuś J

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Thermal alteration of terrestrial palynomorphs in mid-Cretaceous organic-rich mudstones intruded by an igneous sill (Newfoundland Margin, ODP Hole 1276A)

Kabuki (Niikawa‐Kuroki) syndrome associated with immunodeficiency

Coal weathering and laboratory (artificial) coal oxidation

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