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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Hum Genet. 2021 Jul;140(7):1109-1120. doi: 10.1007/s00439-021-02283-2. Epub 2021 May 4.
Hum Genet. 2021.
PMID: 33944996
Free PMC article.
[NEXT-GENERATION SEQUENCING PERFORMED IN PATIENTS RAISING THE SUSPICION OF AN INBORN ERROR OF METABOLISM UNCOVERED A HOMOZYGOUS VARIANT IN YARS1 ALLOWING A NOVEL THERAPEUTIC TRIAL].
Nasser Samra N, Morani I, Bayan H, Bakry D, Shaalan M, Saadi H, Beni Shrem S, Sawaed A, Kok G, Muffels IJ, Fuchs SA, Shapira-Rootman M, Mor-Shaked H, Mandel H.
Nasser Samra N, et al. Among authors: muffels ij.
Harefuah. 2023 Jun;162(6):344-351.
Harefuah. 2023.
PMID: 37394435
Hebrew.
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Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation.
Budhraja R, Radenkovic S, Jain A, Muffels IJJ, Ismaili MHA, Kozicz T, Pandey A, Morava E.
Budhraja R, et al. Among authors: muffels ijj.
Mol Genet Metab. 2024 May 7;142(2):108487. doi: 10.1016/j.ymgme.2024.108487. Online ahead of print.
Mol Genet Metab. 2024.
PMID: 38733638
Review.
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Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Muffels IJJ, Schene IF, Rehmann H, Massink MPG, van der Wal MM, Bauder C, Labeur M, Armando NG, Lequin MH, Houben ML, Giltay JC, Haitjema S, Huisman A, Vansenne F, Bluvstein J, Pappas J, Shailee LV, Zarate YA, Mokry M, van Haaften GW, Nieuwenhuis EES, Refojo D, van Wijk F, Fuchs SA, van Hasselt PM.
Muffels IJJ, et al.
Am J Hum Genet. 2023 Jan 5;110(1):146-160. doi: 10.1016/j.ajhg.2022.12.003.
Am J Hum Genet. 2023.
PMID: 36608681
Free PMC article.
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NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.
Muffels IJJ, Wiame E, Fuchs SA, Massink MPG, Rehmann H, Musch JLI, Van Haaften G, Vertommen D, van Schaftingen E, van Hasselt PM.
Muffels IJJ, et al.
Brain Commun. 2021 Oct 26;3(4):fcab256. doi: 10.1093/braincomms/fcab256. eCollection 2021.
Brain Commun. 2021.
PMID: 34805998
Free PMC article.
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