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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

402 related items for PubMed ID: 29505454

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  • 3. A further patient with van Maldergem syndrome.
    Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N.
    Eur J Med Genet; 2012 Jun; 55(6-7):423-8. PubMed ID: 22469822
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  • 5. Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.
    Beste C, Ocklenburg S, von der Hagen M, Di Donato N.
    Brain Struct Funct; 2016 Jun; 221(5):2487-91. PubMed ID: 25930014
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  • 6. The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes.
    Gripp KW, Baker L, Telegrafi A, Monaghan KG.
    Am J Med Genet A; 2016 Jul; 170(7):1754-62. PubMed ID: 27112773
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  • 7. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
    Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC.
    Hum Genet; 2014 Sep; 133(9):1161-7. PubMed ID: 24913602
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  • 8. Middle ear abnormalities in Van Maldergem syndrome.
    Verheij E, Thomeer HG, Pameijer FA, Topsakal V.
    Am J Med Genet A; 2017 Jan; 173(1):239-244. PubMed ID: 27739185
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  • 9. [Hand-foot-genital syndrome].
    Mitsubuchi H, Endo F.
    Nihon Rinsho; 2006 Jun 28; Suppl 2():647-8. PubMed ID: 16817484
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  • 10. Terminal 2q37 deletion and autistic behaviour.
    Lukusa T, Smeets E, Vogels A, Vermeesch JR, Fryns JP.
    Genet Couns; 2005 Jun 28; 16(2):179-80. PubMed ID: 16080299
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  • 11. Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case.
    Lestner JM, Chong WK, Offiiah A, Kefas J, Vandersteen AM.
    Clin Dysmorphol; 2012 Jul 28; 21(3):152-154. PubMed ID: 22473152
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  • 13. Distal aphalangia, microcephaly and mental retardation.
    Wickramasinghe VP, Lamabadusuriya SP, Athapattu N.
    Ceylon Med J; 2005 Mar 28; 50(1):33-4. PubMed ID: 15881564
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  • 16. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
    Bramswig NC, Lüdecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Guillén-Navarro E, Kiper PÖ, López-González V, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, Wieczorek D.
    Hum Genet; 2015 Jun 28; 134(6):553-68. PubMed ID: 25724810
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  • 17. Dchs1-Fat4 regulation of osteogenic differentiation in mouse.
    Crespo-Enriquez I, Hodgson T, Zakaria S, Cadoni E, Shah M, Allen S, Al-Khishali A, Mao Y, Yiu A, Petzold J, Villagomez-Olea G, Pitsillides AA, Irvine KD, Francis-West P.
    Development; 2019 Jul 29; 146(14):. PubMed ID: 31358536
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