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
Search Results
6 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Eur J Hum Genet. 2023 Nov;31(11):1251-1260. doi: 10.1038/s41431-023-01445-2. Epub 2023 Aug 30.
Eur J Hum Genet. 2023.
PMID: 37644171
Free PMC article.
[Constitutional diseases of bone: clinical flags].
Debrach AC, Brégou A, Gonzalez Rodriguez E, Pejin Z, Kumps C, Craig A, Pavlidou DC, Atallah I.
Debrach AC, et al. Among authors: pavlidou dc.
Rev Med Suisse. 2023 Apr 19;19(823):766-769. doi: 10.53738/REVMED.2023.19.823.766.
Rev Med Suisse. 2023.
PMID: 37133958
French.
Item in Clipboard
Overweight and obesity in adult patients with phenylketonuria: a systematic review.
Tankeu AT, Pavlidou DC, Superti-Furga A, Gariani K, Tran C.
Tankeu AT, et al. Among authors: pavlidou dc.
Orphanet J Rare Dis. 2023 Feb 22;18(1):37. doi: 10.1186/s13023-023-02636-2.
Orphanet J Rare Dis. 2023.
PMID: 36814307
Free PMC article.
Item in Clipboard
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.
Redin C, Pavlidou DC, Bhuiyan Z, Porretta AP, Monney P, Bedoni N, Maurer F, Sekarski N, Atallah I, Émeline D, Jeanrenaud X, Pruvot E, Fellay J, Superti-Furga A.
Redin C, et al. Among authors: pavlidou dc.
Eur J Med Genet. 2022 Dec;65(12):104627. doi: 10.1016/j.ejmg.2022.104627. Epub 2022 Sep 24.
Eur J Med Genet. 2022.
PMID: 36162733
Free article.
Item in Clipboard
When Simple Phlebotomy Is the Cure: Porphyria Cutanea Tarda.
Pavlidou DC, Van Winckel G, Tran C.
Pavlidou DC, et al.
J Gen Intern Med. 2022 Oct;37(13):3489-3490. doi: 10.1007/s11606-022-07740-w. Epub 2022 Jul 25.
J Gen Intern Med. 2022.
PMID: 35879535
Free PMC article.
No abstract available.
Item in Clipboard
Black cartilage: Incidentally discovered articular ochronosis during arthroplasty.
Kumps C, Stanovici J, Chaibi E, Campos-Xavier B, Pavlidou DC, Tran C.
Kumps C, et al. Among authors: pavlidou dc.
J Inherit Metab Dis. 2021 Nov;44(6):1503-1504. doi: 10.1002/jimd.12417. Epub 2021 Jul 23.
J Inherit Metab Dis. 2021.
PMID: 34264534
Free PMC article.
No abstract available.
Item in Clipboard
Cite
Cite