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Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
Am J Med Genet A. 2021 Dec;185(12):3831-3837. doi: 10.1002/ajmg.a.62426. Epub 2021 Jul 23.
Am J Med Genet A. 2021.
PMID: 34296525
Classical homocystinuria, is it safe to exercise?
Tankeu AT, Van Winckel G, Campos-Xavier B, Braissant O, Pedro R, Superti-Furga A, Amati F, Tran C.
Tankeu AT, et al. Among authors: van winckel g.
Mol Genet Metab Rep. 2021 Mar 26;27:100746. doi: 10.1016/j.ymgmr.2021.100746. eCollection 2021 Jun.
Mol Genet Metab Rep. 2021.
PMID: 33868930
Free PMC article.
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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: van winckel g.
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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When Simple Phlebotomy Is the Cure: Porphyria Cutanea Tarda.
Pavlidou DC, Van Winckel G, Tran C.
Pavlidou DC, et al. Among authors: van winckel g.
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.
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Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.
Van Winckel G, Ballhausen D, Wolf B, Procter M, Mao R, Burda P, Strambo D, Kuntzer T, Tran C.
Van Winckel G, et al.
Front Neurol. 2020 Oct 26;11:516799. doi: 10.3389/fneur.2020.516799. eCollection 2020.
Front Neurol. 2020.
PMID: 33192963
Free PMC article.
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Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant.
Ricciardiello R, Forleo G, Cipolla L, van Winckel G, Marconi C, Nouspikel T, Halazonetis TD, Zgheib O, Sabbioneda S.
Ricciardiello R, et al. Among authors: van winckel g.
Sci Rep. 2024 Jan 11;14(1):1117. doi: 10.1038/s41598-023-51120-1.
Sci Rep. 2024.
PMID: 38212351
Free PMC article.
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Biotinidase deficiency: What have we learned in forty years?
Tankeu AT, Van Winckel G, Elmers J, Jaccard E, Superti-Furga A, Wolf B, Tran C.
Tankeu AT, et al. Among authors: van winckel g.
Mol Genet Metab. 2023 Apr;138(4):107560. doi: 10.1016/j.ymgme.2023.107560. Epub 2023 Mar 24.
Mol Genet Metab. 2023.
PMID: 37027963
Free article.
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