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macrocephaly相关文献:
Imaging of Macrocephaly.
Neuberger I, Stence NV, Maloney JA, White CJ, Mirsky DM.
Clin Perinatol. 2022 Sep;49(3):715-734. doi: 10.1016/j.clp.2022.05.006.
PMID:36113931
Macrocephaly and subdural collections.
Caré MM.
Pediatr Radiol. 2021 May;51(6):891-897. doi: 10.1007/s00247-020-04848-1. Epub 2021 May 17.
PMID:33999235
Fetal macrocephaly: Pathophysiology, prenatal diagnosis and management.
Shinar S, Chitayat D, Shannon P, Blaser S.
Prenat Diagn. 2023 Dec;43(13):1650-1661. doi: 10.1002/pd.6473. Epub 2023 Nov 27.
PMID:38009873
Macrocephaly: Solving the Diagnostic Dilemma.
Tan AP, Mankad K, Gonçalves FG, Talenti G, Alexia E.
Top Magn Reson Imaging. 2018 Aug;27(4):197-217. doi: 10.1097/RMR.0000000000000170.
PMID:30086108
Macrocephaly in the Primary Care Provider's Office.
Bryant JP, Hernandez NE, Niazi TN.
Pediatr Clin North Am. 2021 Aug;68(4):759-773. doi: 10.1016/j.pcl.2021.04.004.
PMID:34247707
Emergency department management of children with macrocephaly.
McDaniel M.
Pediatr Emerg Med Pract. 2023 Aug;20(8):1-20. Epub 2023 Aug 1.
PMID:37486089
Macrocephaly and Finger Changes: A Narrative Review.
Lazea C, Vulturar R, Chiș A, Encica S, Horvat M, Belizna C, Damian LO.
Int J Mol Sci. 2024 May 20;25(10):5567. doi: 10.3390/ijms25105567.
PMID:38791606
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I, Zampo…
Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18.
PMID:30343943
The NuRD complex and macrocephaly associated neurodevelopmental disorders.
Pierson TM, Otero MG, Grand K, Choi A, Graham JM Jr, Young JI, Mackay JP.
Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):548-556. doi: 10.1002/ajmg.c.31752. Epub 2019 Nov 18.
PMID:31737996
Systematic Approach to Pediatric Macrocephaly.
Huang J, Sarma A, Little S, Pruthi S.
Radiographics. 2023 May;43(5):e220159. doi: 10.1148/rg.220159.
PMID:37104125
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