Per H - Search Results

1

Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy.

Wang H, Castiglioni C, Kaçar Bayram A, Fattori F, Pekuz S, Araneda D, Per H, Erazo R, Gümüş H, Zorludemir S, Becker K, Ortega X, Bevilacqua JA, Bertini E, Cirak S. Wang H, et al. Among authors: per h. Neuromuscul Disord. 2017 Sep;27(9):836-842. doi: 10.1016/j.nmd.2017.05.014. Epub 2017 May 24. Neuromuscul Disord. 2017. PMID: 28624463

2

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

3

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.

4

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

5

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

6

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

7

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

8

Unusual presentation of herpes simplex virus encephalitis: bilateral thalamic involvement and normal imaging of early stage of the disease.

Gümüş H, Kumandaş S, Per H, Tahan F, Köklü E, Karakükçü M. Gümüş H, et al. Among authors: per h. Am J Emerg Med. 2007 Jan;25(1):87-9. doi: 10.1016/j.ajem.2006.05.007. Am J Emerg Med. 2007. PMID: 17157690 No abstract available.

9

Molybdenum cofactor deficiency: clinical features in a Turkish patient.

Per H, Gümüş H, Ichida K, Cağlayan O, Kumandaş S. Per H, et al. Brain Dev. 2007 Jul;29(6):365-8. doi: 10.1016/j.braindev.2006.10.007. Epub 2006 Dec 8. Brain Dev. 2007. PMID: 17158010

10

Transient sixth nerve palsies and torticollis secondary to parietal arteriovenous malformation.

Per H, Tucer B, Gümüs H, Kurtsoy A, Kumandas S. Per H, et al. Pediatr Neurosurg. 2007;43(1):32-5. doi: 10.1159/000097523. Pediatr Neurosurg. 2007. PMID: 17190986

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