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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
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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.
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.
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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.
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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.
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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
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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
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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.
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