Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1995 | 1 |
1996 | 1 |
2012 | 1 |
2013 | 1 |
2014 | 1 |
2021 | 1 |
2024 | 0 |
Search Results
5 results
Results by year
Filters applied: . Clear all
It looks like you are searching for an author.
Results are currently sorted by Best Match. To see the newest results first,
change the sort order to Most Recent.
Page 1
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22.
Neurology. 2014.
PMID: 25339210
Free PMC article.
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofz…
See abstract for full author list ➔
Pelletier F, et al. Among authors: kolditz p.
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.
Item in Clipboard
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
Item in Clipboard
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
Item in Clipboard
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
Item in Clipboard
Cite
Cite