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Page 1
Did you mean tina duelund hjortshoej (1 results)?
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group; Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. Manole A, et al. Among authors: hjortshoj td. Am J Hum Genet. 2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31. Am J Hum Genet. 2020. PMID: 32738225 Free PMC article.
[Hereditary cerebro-oculo-renal syndromes].
Sessa G, Hjortshøj TD, Egfjord M. Sessa G, et al. Among authors: hjortshoj td. Ugeskr Laeger. 2014 Feb 17;176(8A):V07130452. Ugeskr Laeger. 2014. PMID: 25350305 Free article. Review. Danish.
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Pérez Baca MDR, Jacobs EZ, Vantomme L, Leblanc P, Bogaert E, Dheedene A, De Cock L, Haghshenas S, Foroutan A, Levy MA, Kerkhof J, McConkey H, Chen CA, Batzir NA, Wang X, Palomares M, Carels M; ZFHX3 consortium; Dermaut B, Sadikovic B, Menten B, Yuan B, Vergult S, Callewaert B. Pérez Baca MDR, et al. Am J Hum Genet. 2024 Mar 7;111(3):509-528. doi: 10.1016/j.ajhg.2024.01.013. Epub 2024 Feb 26. Am J Hum Genet. 2024. PMID: 38412861
Risks and pregnancy outcome after fetal reduction in dichorionic twin pregnancies: a Danish national retrospective cohort study.
Kristensen SE, Ekelund CK, Sandager P, Jørgensen FS, Hoseth E, Sperling L, Balaganeshan SB, Hjortshøj TD, Gadsbøll K, Wright A, Wright D, McLennan A, Sundberg K, Petersen OB. Kristensen SE, et al. Among authors: hjortshoj td. Am J Obstet Gynecol. 2023 May;228(5):590.e1-590.e12. doi: 10.1016/j.ajog.2022.10.028. Epub 2022 Oct 29. Am J Obstet Gynecol. 2023. PMID: 36441092 Free article.
Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy.
Jeppesen LD, Hjortshøj TD, Hindkjær J, Hatt L, Petersen OB, Singh R, Schelde P, Andreasen L, Christensen R, Lildballe DL, Vogel I. Jeppesen LD, et al. Among authors: hjortshoj td. Front Genet. 2022 Mar 11;13:842092. doi: 10.3389/fgene.2022.842092. eCollection 2022. Front Genet. 2022. PMID: 35360877 Free PMC article.
Is MED13L-related intellectual disability a recognizable syndrome?
Tørring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibæk M, Laulund L, Illum N, Dunkhase-Heinl U, Wiesener A, Popp B, Marangi G, Hjortshøj TD, Ek J, Vogel I, Becher N, Roos L, Zollino M, Fagerberg CR. Tørring PM, et al. Among authors: hjortshoj td. Eur J Med Genet. 2019 Feb;62(2):129-136. doi: 10.1016/j.ejmg.2018.06.014. Epub 2018 Jun 27. Eur J Med Genet. 2019. PMID: 29959045
Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.
Singh R, Cohen ASA, Poulton C, Hjortshøj TD, Akahira-Azuma M, Mendiratta G, Khan WA, Azmanov DN, Woodward KJ, Kirchhoff M, Shi L, Edelmann L, Baynam G, Scott SA, Jabs EW. Singh R, et al. Among authors: hjortshoj td. Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3):a005991. doi: 10.1101/mcs.a005991. Print 2021 Jun. Cold Spring Harb Mol Case Stud. 2021. PMID: 34117072 Free PMC article.
Triple trouble: uncovering the risks and benefits of early fetal reduction in trichorionic triplets in a large national Danish cohort study.
Kristensen SE, Kvist Ekelund C, Sandager P, Stener Jørgensen F, Hoseth E, Sperling L, Zingenberg HJ, Duelund Hjortshøj T, Gadsbøll K, Wright A, Wright D, McLennan A, Sundberg K, Petersen OB. Kristensen SE, et al. Among authors: duelund hjortshoj t. Am J Obstet Gynecol. 2023 Nov;229(5):555.e1-555.e14. doi: 10.1016/j.ajog.2023.05.029. Epub 2023 May 30. Am J Obstet Gynecol. 2023. PMID: 37263399 Free article.
28 results