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Kimer deformity相关文献:
Classification of arthrogryposis.
Hall JG, Kimber E, Dieterich K.
Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):300-303. doi: 10.1002/ajmg.c.31716. Epub 2019 Jul 4.
PMID:31271512
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH.
Genome Biol. 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y.
PMID:27899157
Genetics and Classifications.
Hall JG, Kimber E, van Bosse HJP.
J Pediatr Orthop. 2017 Jul/Aug;37 Suppl 1:S4-S8. doi: 10.1097/BPO.0000000000000997.
PMID:28594686
Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations.
Bantounas I, Rooney KM, Lopes FM, Tengku F, Woods S, Zeef LAH, Lin IH, Kuba SY, Bates N, Hummelgaard S, Hillman KA, Cereghini S, Woolf AS, Kimber SJ.
Stem Cell Reports. 2024 Jun 11;19(6):859-876. doi: 10.1016/j.stemcr.2024.04.011. Epub 2024 May 23.
PMID:38788724
Bidirectional Ventricular Tachycardia: Challenges and Solutions.
Almarzuqi A, Kimber S, Quadros K, Senaratne J.
Vasc Health Risk Manag. 2022 Jun 7;18:397-406. doi: 10.2147/VHRM.S274857. eCollection 2022.
PMID:35698640
High-Risk Nonclassical Long-QT Syndrome Genotypes: Spectrum of Genetic and Phenotypic Features.
Abdulrahman A, Davies B, Khan H, Sanatani S, Tadros R, Talajic M, Cadrin-Tourigny J, Atallah J, Lee D, Gardner M, Steinberg C, Hansom S, Green M, Fournier A, Arbour L, Leather R, Kimber S, Roberts J, Healey J, Angaran P, Simpson C, Seifer C, Ilhan E, Joza J, Krahn A, Laksman Z.
Circ Genom Precis Med. 2024 Aug;17(4):e004554. doi: 10.1161/CIRCGEN.124.004554. Epub 2024 Jul 29.
PMID:39069946
Minimally invasive adrenalectomy in children.
Heloury Y, Muthucumaru M, Panabokke G, Cheng W, Kimber C, Leclair MD.
J Pediatr Surg. 2012 Feb;47(2):415-21. doi: 10.1016/j.jpedsurg.2011.08.003.
PMID:22325405
Genes and signals regulating murine trophoblast cell development.
El-Hashash AH, Warburton D, Kimber SJ.
Mech Dev. 2010 Jan-Feb;127(1-2):1-20. doi: 10.1016/j.mod.2009.09.004. Epub 2009 Sep 13.
PMID:19755154
Adverse Reactions Associated with Intravenous Immunoglobulin Administration in the Treatment of Neurological Disorders: A Systematic Review.
Jiang M, Kimber JS, Gupta A, Kovoor J, Stretton B, Ravindran J, Hissaria P, Smith WB, Bacchi S.
Int Arch Allergy Immunol. 2023;184(6):513-528. doi: 10.1159/000529110. Epub 2023 Apr 4.
PMID:37015212
Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care.
Dieterich K, Kimber E, Hall JG.
Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):345-353. doi: 10.1002/ajmg.c.31732. Epub 2019 Aug 13.
PMID:31410997
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