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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2015, Volume 112, Issue 5, pp. 1595 - 1600
Journal Article
Clinical Genetics, ISSN 0009-9163, 06/2019, Volume 95, Issue 6, pp. 734 - 735
A hemizygous variant in the HNRNPH2 gene causes MRXSB in a male individual. 
GENETICS & HEREDITY | Mental illness
Journal Article
Journal Article
medizinische genetik, ISSN 0936-5931, 11/2019, Volume 31, Issue 3, pp. 313 - 319
Journal Article
Nature Communications, ISSN 2041-1723, 07/2017, Volume 8, Issue 1, p. 15910
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 09/2016, Volume 11, Issue 1, pp. 1 - 7
We examined an extended, consanguineous family with seven individuals with severe intellectual disability and microcephaly. Further symptoms were hearing loss,... 
ARID | Hypotonia | NGS | Microcephaly | Hearing loss | MEDICINE, RESEARCH & EXPERIMENTAL | PEX1 | PROTEIN STRUCTURES | SPASTIC PARAPLEGIA | FAMILIES | GENETICS & HEREDITY | PEROXISOME BIOGENESIS DISORDERS | LOOPS | Symptomatology | Gene mutations | Analysis | Genetic aspects | Research | Mental retardation | Risk factors
Journal Article
Journal Article
Earth's Future, ISSN 2328-4277, 03/2015, Volume 3, Issue 3, pp. 110 - 132
Journal Article