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 |
---|---|
2020 | 2 |
2021 | 4 |
2022 | 1 |
2023 | 1 |
2024 | 0 |
Search Results
7 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
[Constitutional diseases of bone: clinical flags].
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.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F.
Velmans C, et al. Among authors: kumps c.
J Med Genet. 2022 Jul;59(7):697-705. doi: 10.1136/jmedgenet-2020-107470. Epub 2021 Jul 28.
J Med Genet. 2022.
PMID: 34321323
Free PMC article.
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.
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
Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathy.
Kumps C, Niel Bütschi F, Rapin B, Baud D, Pescia G, Robyr D, Superti-Furga A, Unger S.
Kumps C, et al.
J Hum Genet. 2020 Nov;65(11):1035-1038. doi: 10.1038/s10038-020-0789-8. Epub 2020 Jun 18.
J Hum Genet. 2020.
PMID: 32555312
Item in Clipboard
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Royer-Bertrand B, Jequier Gygax M, Cisarova K, Rosenfeld JA, Bassetti JA, Moldovan O, O'Heir E, Burrage LC, Allen J, Emrick LT, Eastman E, Kumps C, Abbas S, Van Winckel G; Undiagnosed Diseases Network; Chabane N, Zackai EH, Lebon S, Keena B, Bhoj EJ, Umair M, Li D, Donald KA, Superti-Furga A.
Royer-Bertrand B, et al. Among authors: kumps c.
Mol Autism. 2021 Oct 26;12(1):69. doi: 10.1186/s13229-021-00473-3.
Mol Autism. 2021.
PMID: 34702355
Free PMC article.
Item in Clipboard
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Atallah I, Quinodoz M, Campos-Xavier B, Peter VG, Fouriki A, Bonvin C, Bottani A, Kumps C, Angelini F, Bellutti Enders F, Christen-Zaech S, Rizzi M, Renella R, Beck-Popovic M, Poloni C, Frossard V, Blouin JL, Rivolta C, Riccio O, Candotti F, Hofer M, Unger S, Superti-Furga A.
Atallah I, et al. Among authors: kumps c.
Clin Genet. 2021 Jun;99(6):780-788. doi: 10.1111/cge.13942. Epub 2021 Feb 21.
Clin Genet. 2021.
PMID: 33586135
Item in Clipboard
The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases.
Kumps C, Campos-Xavier B, Hilhorst-Hofstee Y, Marcelis C, Kraenzlin M, Fleischer N, Unger S, Superti-Furga A.
Kumps C, et al.
Genes (Basel). 2020 Apr 14;11(4):420. doi: 10.3390/genes11040420.
Genes (Basel). 2020.
PMID: 32295219
Free PMC article.
Item in Clipboard
Cite
Cite