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
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2004 | 3 |
2006 | 1 |
2007 | 2 |
2017 | 1 |
2023 | 0 |
Search Results
7
results
Results by year
Page 1
Dysmorphic facial features in aspartylglucosaminuria patients and carriers.
Clin Dysmorphol. 2004 Jan;13(1):11-5. doi: 10.1097/00019605-200401000-00003.
Clin Dysmorphol. 2004.
PMID: 15127757
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.
Hoyer J, Dreweke A, Becker C, Göhring I, Thiel CT, Peippo MM, Rauch R, Hofbeck M, Trautmann U, Zweier C, Zenker M, Hüffmeier U, Kraus C, Ekici AB, Rüschendorf F, Nürnberg P, Reis A, Rauch A.
Hoyer J, et al. Among authors: peippo mm.
J Med Genet. 2007 Oct;44(10):629-36. doi: 10.1136/jmg.2007.050914. Epub 2007 Jun 29.
J Med Genet. 2007.
PMID: 17601928
Free PMC article.
Item in Clipboard
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Gohring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RC, Orrico A, Cohen M, Dreweke A, Reis A, Nurnberg P, Rauch A.
Zweier C, et al. Among authors: peippo mm.
Am J Hum Genet. 2007 May;80(5):994-1001. doi: 10.1086/515583. Epub 2007 Mar 23.
Am J Hum Genet. 2007.
PMID: 17436255
Free PMC article.
Item in Clipboard
Pitt-Hopkins syndrome in two patients and further definition of the phenotype.
Peippo MM, Simola KO, Valanne LK, Larsen AT, Kähkönen M, Auranen MP, Ignatius J.
Peippo MM, et al.
Clin Dysmorphol. 2006 Apr;15(2):47-54. doi: 10.1097/01.mcd.0000184973.14775.32.
Clin Dysmorphol. 2006.
PMID: 16531728
Item in Clipboard
Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome.
Oksanen VE, Arvio MA, Peippo MM, Valanne LK, Sainio KO.
Oksanen VE, et al. Among authors: peippo mm.
Pediatr Neurol. 2004 Jan;30(1):67-70. doi: 10.1016/s0887-8994(03)00419-3.
Pediatr Neurol. 2004.
PMID: 14738956
Item in Clipboard
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.
Zweier M, Peippo MM, Pöyhönen M, Kääriäinen H, Begemann A, Joset P, Oneda B, Rauch A.
Zweier M, et al. Among authors: peippo mm.
Am J Med Genet A. 2017 May;173(5):1440-1443. doi: 10.1002/ajmg.a.38143. Epub 2017 Mar 21.
Am J Med Genet A. 2017.
PMID: 28323383
Free PMC article.
No abstract available.
Item in Clipboard
Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females.
Pöyhönen MH, Peippo MM, Valanne LK, Kuokkanen KE, Koskela SM, Bartsch O, Rasi S, Wiebe GJ, Kähkönen M, Kääriäinen HA.
Pöyhönen MH, et al. Among authors: peippo mm.
Clin Dysmorphol. 2004 Apr;13(2):85-90.
Clin Dysmorphol. 2004.
PMID: 15057123
Item in Clipboard
Cite
Cite