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191 results

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Page 1
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG, Koch AEA, Meltzer HS, Le J, Au KS, Northrup H, Bot GM, Capra V, Finnell RH, Kibar Z, Lupo PJ, Machado HR, Araújo C, Magana T, Marwan AI, Melikishvili G, Mutchinick OM, Stevenson RE, Yurrita A, Zaki MS, Mumtaz S, Medina-Bereciartu JR, Kolvenbach CM, Shril S, Hildebrandt F, Noureldeen MM, Salem AM, Takahashi Y, Salimi-Dafsari H, Phillips HW, Hanak B, Kara B, Güneş AS, Gonda DD, Kirmani S, Tkemaladze T, Gleeson JG. Vong KI, et al. Among authors: northrup h. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.
Harding CO, Longo N, Northrup H, Sacharow S, Singh R, Thomas JA, Vockley J, Zori RT, Bulloch Whitehall K, Lilienstein J, Lindstrom K, Levy DG, Jones S, Burton BK. Harding CO, et al. Among authors: northrup h. Mol Genet Metab Rep. 2024 Apr 23;39:101084. doi: 10.1016/j.ymgmr.2024.101084. eCollection 2024 Jun. Mol Genet Metab Rep. 2024. PMID: 38694233 Free PMC article.
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Levesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame D, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga D, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillman RC, Srinivasan VM, Torbati PN, Tos T; Undiagnosed Diseases Network; Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS. Banks E, et al. Among authors: northrup h. medRxiv [Preprint]. 2024 Jan 31:2022.08.23.22278845. doi: 10.1101/2022.08.23.22278845. medRxiv. 2024. PMID: 38352438 Free PMC article. Preprint.
Best practice recommendations for the management of anxiety during the pegvaliase journey.
Bjoraker KJ, Eggerding C, Ellenberg E, Hollander S, Holmes BM, Lindstrom K, McNutt M, Miller S, Northrup H, Rogers M, Rose S, Scott M, Shim S, Wardley B, Wessenberg L, Bilder DA. Bjoraker KJ, et al. Among authors: northrup h. Mol Genet Metab. 2024 Jan;141(1):107737. doi: 10.1016/j.ymgme.2023.107737. Epub 2023 Nov 22. Mol Genet Metab. 2024. PMID: 38043481 Free article.
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.
Vockley J, Sondheimer N, Puurunen M, Diaz GA, Ginevic I, Grange DK, Harding C, Northrup H, Phillips JA 3rd, Searle S, Thomas JA, Zori R, Denney WS, Ernst SL, Humphreys K, McWhorter N, Kurtz C, Brennan AM. Vockley J, et al. Among authors: northrup h. Nat Metab. 2023 Oct;5(10):1685-1690. doi: 10.1038/s42255-023-00897-6. Epub 2023 Sep 28. Nat Metab. 2023. PMID: 37770764 Clinical Trial.
191 results