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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700.
J Clin Endocrinol Metab. 2021.
PMID: 33005949
Free PMC article.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group.
Wolf NI, et al.
Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22.
Neurology. 2014.
PMID: 25339210
Free PMC article.
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Non-traumatic spinal cord ischaemia in childhood - clinical manifestation, neuroimaging and outcome.
Stettler S, El-Koussy M, Ritter B, Boltshauser E, Jeannet PY, Kolditz P, Meyer-Heim A, Steinlin M.
Stettler S, et al. Among authors: kolditz p.
Eur J Paediatr Neurol. 2013 Mar;17(2):176-84. doi: 10.1016/j.ejpn.2012.09.002. Epub 2012 Oct 4.
Eur J Paediatr Neurol. 2013.
PMID: 23040677
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Expression pattern of cytokines in the different compartments of the feto-maternal unit under various conditions.
Stallmach T, Hebisch G, Joller H, Kolditz P, Engelmann M.
Stallmach T, et al. Among authors: kolditz p.
Reprod Fertil Dev. 1995;7(6):1573-80. doi: 10.1071/rd9951573.
Reprod Fertil Dev. 1995.
PMID: 8743167
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Diaphragmatic defects, limb deficiencies, and ossification defects of the skull: a distinctive malformation syndrome.
Froster UG, Kolditz P, Wisser J, Robbiani MB, Stallmach T, Hebisch G, Huch R, Huch A.
Froster UG, et al. Among authors: kolditz p.
Am J Med Genet. 1996 Mar 1;62(1):48-53. doi: 10.1002/(SICI)1096-8628(19960301)62:1<48::AID-AJMG10>3.0.CO;2-V.
Am J Med Genet. 1996.
PMID: 8779324
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