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Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era.
J Pediatr. 2017 Feb;181:137-145.e1. doi: 10.1016/j.jpeds.2016.10.045. Epub 2016 Nov 10.
J Pediatr. 2017.
PMID: 27837951
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.
Eggers S, et al. Among authors: shalhoub c.
Genome Biol. 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y.
Genome Biol. 2016.
PMID: 27899157
Free PMC article.
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De novo interstitial duplication 4(q28.1q35) associated with choanal atresia.
Lin S, Kirk EP, McKenzie F, Francis C, Shalhoub C, Turner AM.
Lin S, et al. Among authors: shalhoub c.
J Paediatr Child Health. 2004 Jul;40(7):401-3. doi: 10.1111/j.1440-1754.2004.00411.x.
J Paediatr Child Health. 2004.
PMID: 15228573
Review.
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An analphoid marker chromosome inv dup(15)(q26.1qter), detected during prenatal diagnosis and characterized via chromosome microdissection.
Mahjoubi F, Peters GB, Malafiej P, Shalhoub C, Turner A, Daniel A, Hill RJ.
Mahjoubi F, et al. Among authors: shalhoub c.
Cytogenet Genome Res. 2005;109(4):485-90. doi: 10.1159/000084207.
Cytogenet Genome Res. 2005.
PMID: 15905642
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Professional regulation for Australasian genetic counselors.
Hoskins C, Gaff C, McEwen A, Macciocca I, Pearn A, Shalhoub C, Salvemini H, Berkman J, Riley KE, Williams R, Milward M, Young MA.
Hoskins C, et al. Among authors: shalhoub c.
J Genet Couns. 2021 Apr;30(2):361-369. doi: 10.1002/jgc4.1344. Epub 2020 Nov 5.
J Genet Couns. 2021.
PMID: 33151605
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Psychosocial experiences of clinicians providing care for children with severe neurological impairment.
Nevin SM, Le Marne FA, Beavis E, Macintosh R, Palmer EE, Sachdev R, Nunn K, Bye A; ClinEquip Advisory Group.
Nevin SM, et al.
Dev Med Child Neurol. 2024 Jun 5. doi: 10.1111/dmcn.15987. Online ahead of print.
Dev Med Child Neurol. 2024.
PMID: 38837791
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Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.
Forwood C, Ashton K, Zhu Y, Zhang F, Dias KR, Standen K, Evans CA, Carey L, Cardamone M, Shalhoub C, Katf H, Riveros C, Hsieh TC, Krawitz P, Robinson PN, Dudding-Byth T, Sadikovic B, Pinner J, Buckley MF, Roscioli T.
Forwood C, et al. Among authors: shalhoub c.
Am J Med Genet C Semin Med Genet. 2023 Sep;193(3):e32056. doi: 10.1002/ajmg.c.32056. Epub 2023 Aug 31.
Am J Med Genet C Semin Med Genet. 2023.
PMID: 37654076
Free PMC article.
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OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
Celse T, Tingaud-Sequeira A, Dieterich K, Siegfried G, Lecaignec C, Bouneau L, Fannemel M, Salaun G, Laffargue F, Martinez G, Satre V, Vieville G, Bidart M, Soussi Zander C, Turesson AC, Splitt M, Reboul D, Chiesa J, Khau Van Kien P, Godin M, Gruchy N, Goel H, Palmer E, Demetriou K, Shalhoub C, Rooryck C, Coutton C.
Celse T, et al. Among authors: shalhoub c.
J Med Genet. 2023 Jun;60(6):620-626. doi: 10.1136/jmg-2022-108678. Epub 2022 Nov 11.
J Med Genet. 2023.
PMID: 36368868
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