Per H - Search Results

1

A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.

Kaçar Bayram A, Per H, Quon J, Canpolat M, Ülgen E, Doğan H, Gumus H, Kumandas S, Bayram N, Bilguvar K, Çağlayan AO. Kaçar Bayram A, et al. Among authors: per h. Eur J Paediatr Neurol. 2015 Nov;19(6):743-6. doi: 10.1016/j.ejpn.2015.06.003. Epub 2015 Jul 9. Eur J Paediatr Neurol. 2015. PMID: 26190014

2

Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.

Harms FL, Rexach JE, Efthymiou S, Aynekin B, Per H, Güleç A, Nampoothiri S, Sampaio H, Sachdev R, Stoeva R, Myers K, Pena LDM, Kalfa TA, Chard M, Klassen M, Pries M, Kutsche K. Harms FL, et al. Among authors: per h. Eur J Hum Genet. 2024 May;32(5):558-566. doi: 10.1038/s41431-024-01563-5. Epub 2024 Feb 19. Eur J Hum Genet. 2024. PMID: 38374468 Free PMC article.

3

Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.

Clara-Hwang A, Stefani S, Lau T, Scala M, Aynekin B, Bernardo P, Madia F, Bakhtadze S, Kaiyrzhanov R, Maroofian R, Zara F, Srinivasan VM, Gowda V, Guliyeva U, Montavont A, Poulat AL, Güleç A, Berger C, Ville DM, de Bellescize J, Cabet S, Wonneberger A, Schulz A, Rodriguez-Palmero A, Chatron N, Lesca G, Per H, Goel H, Brown J, Frey T, Steindl K, Rauch A, Severino M, Houlden H, Nicolaides P, Striano P, Efthymiou S. Clara-Hwang A, et al. Among authors: per h. Neurol Genet. 2024 Jul 11;10(4):e200168. doi: 10.1212/NXG.0000000000200168. eCollection 2024 Aug. Neurol Genet. 2024. PMID: 39035822 Free PMC article.

4

A multicenter cross-sectional study to evaluate the clinical characteristics and nutritional status of children with cerebral palsy.

Aydin K; Turkish Cerebral Palsy Study Group. Aydin K, et al. Clin Nutr ESPEN. 2018 Aug;26:27-34. doi: 10.1016/j.clnesp.2018.05.002. Epub 2018 May 31. Clin Nutr ESPEN. 2018. PMID: 29908679

5

Lamotrigine in two cases of Rett syndrome.

Kumandas S, Caksen H, Ciftçi A, Oztürk M, Per H. Kumandas S, et al. Among authors: per h. Brain Dev. 2001 Jul;23(4):240-2. doi: 10.1016/s0387-7604(01)00191-7. Brain Dev. 2001. PMID: 11377003

6

Acute hemorrhagic edema of infancy.

Poyrazoğlu HM, Per H, Gündüz Z, Düşünsel R, Arslan D, NarIn N, Gümüş H. Poyrazoğlu HM, et al. Among authors: per h. Pediatr Int. 2003 Dec;45(6):697-700. doi: 10.1111/j.1442-200x.2003.01796.x. Pediatr Int. 2003. PMID: 14651544

7

Traumatic medial cerebral artery occlusion in a 4-year-old child.

Gümüş H, Kumandaş S, Coşkun A, Per H. Gümüş H, et al. Among authors: per h. Am J Emerg Med. 2004 Nov;22(7):626-8. doi: 10.1016/j.ajem.2004.09.014. Am J Emerg Med. 2004. PMID: 15666282 No abstract available.

8

Calcified chronic subdural hematoma mimicking calvarial mass: a case report.

Per H, Gümüş H, Tucer B, Akgün H, Kurtsoy A, Kumandaş S. Per H, et al. Brain Dev. 2006 Oct;28(9):607-9. doi: 10.1016/j.braindev.2006.03.012. Epub 2006 May 22. Brain Dev. 2006. PMID: 16716548

9

Intracranial hemorrhage due to late hemorrhagic disease in two siblings.

Per H, Kumandaş S, Ozdemir MA, Gümüş H, Karakukcu M. Per H, et al. J Emerg Med. 2006 Jul;31(1):49-52. doi: 10.1016/j.jemermed.2005.09.007. J Emerg Med. 2006. PMID: 16798155

10

Torticollis secondary to posterior fossa and cervical spinal cord tumors: report of five cases and literature review.

Kumandaş S, Per H, Gümüş H, Tucer B, Yikilmaz A, Kontaş O, Coşkun A, Kurtsoy A. Kumandaş S, et al. Among authors: per h. Neurosurg Rev. 2006 Oct;29(4):333-8; discussion 338. doi: 10.1007/s10143-006-0034-8. Epub 2006 Aug 22. Neurosurg Rev. 2006. PMID: 16924460

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