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Case 3: A 10-year-old Boy with Saber Shins.
Pediatr Rev. 2018 Oct;39(10):523-526. doi: 10.1542/pir.2017-0068.
Pediatr Rev. 2018.
PMID: 30275036
No abstract available.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
Angelozzi M, Karvande A, Molin AN, Ritter AL, Leonard JMM, Savatt JM, Douglass K, Myers SM, Grippa M, Tolchin D, Zackai E, Donoghue S, Hurst ACE, Descartes M, Smith K, Velasco D, Schmanski A, Crunk A, Tokita MJ, de Lange IM, van Gassen K, Robinson H, Guegan K, Suri M, Patel C, Bournez M, Faivre L, Tran-Mau-Them F, Baker J, Fabie N, Weaver K, Shillington A, Hopkin RJ, Barge-Schaapveld DQCM, Ruivenkamp CA, Bökenkamp R, Vergano S, Seco Moro MN, Díaz de Bustamante A, Misra VK, Kennelly K, Rogers C, Friedman J, Wigby KM, Lenberg J, Graziano C, Ahrens-Nicklas RC, Lefebvre V.
Angelozzi M, et al.
J Med Genet. 2022 Nov;59(11):1058-1068. doi: 10.1136/jmedgenet-2021-108375. Epub 2022 Mar 1.
J Med Genet. 2022.
PMID: 35232796
Free PMC article.
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The Current State of Newborn Screening in the United States.
Fabie NAV, Pappas KB, Feldman GL.
Fabie NAV, et al.
Pediatr Clin North Am. 2019 Apr;66(2):369-386. doi: 10.1016/j.pcl.2018.12.007.
Pediatr Clin North Am. 2019.
PMID: 30819343
Review.
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Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Küry S, Stanton JE, van Woerden G, Hsieh TC, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel F, Möller S, Florenceau L, Cuinat S, Marsac S, Wentzensen I, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter M, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson L, Costin C, Jobling RK, Pappas J, Rabin R, Niyazov D, Tsai AC, Kovak K, Beck DB, Malicdan M, Adams DR, Wolfe L, Ganetzky RD, Muraresku C, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Al Saif H, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton M, Bryson L, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Jurgensmeyer S, McRae AM, Lessard MK, D'Agostino MD, De Bi…
See abstract for full author list ➔
Küry S, et al. Among authors: fabie nav.
medRxiv [Preprint]. 2024 Jan 26:2024.01.13.24301174. doi: 10.1101/2024.01.13.24301174.
medRxiv. 2024.
PMID: 38293138
Free PMC article.
Preprint.
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Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening.
Pillai NR, Fabie NAV, Kaye TV, Rosendahl SD, Ahmed A, Hietala AD, Jorgenson AB, Lanpher BC, Whitley CB.
Pillai NR, et al. Among authors: fabie nav.
Mol Genet Metab. 2023 Sep-Oct;140(1-2):107633. doi: 10.1016/j.ymgme.2023.107633. Epub 2023 Jun 25.
Mol Genet Metab. 2023.
PMID: 37414610
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Approach to Children with Aggressive Behavior for General Pediatricians and Hospitalists: Part 2-Evaluation, Tests, and Treatment.
Haidar-Elatrache S, Wolf M, Fabie NAV, Sahai S.
Haidar-Elatrache S, et al. Among authors: fabie nav.
Pediatr Ann. 2018 Oct 1;47(10):e408-e412. doi: 10.3928/19382359-20180919-02.
Pediatr Ann. 2018.
PMID: 30308677
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Approach to Children with Aggressive Behavior for General Pediatricians and Hospitalists: Part 1-Epidemiology and Etiology.
Haidar-Elatrache S, Wolf M, Fabie NAV, Sahai S.
Haidar-Elatrache S, et al. Among authors: fabie nav.
Pediatr Ann. 2018 Oct 1;47(10):e402-e407. doi: 10.3928/19382359-20180918-02.
Pediatr Ann. 2018.
PMID: 30308676
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