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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

203 related items for PubMed ID: 22473091

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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. 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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  • 6. 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. Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case.
    Lestner JM, Chong WK, Offiiah A, Kefas J, Vandersteen AM.
    Clin Dysmorphol; 2012 Jul; 21(3):152-154. PubMed ID: 22473152
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  • 10. Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.
    Bhoj EJ, Haye D, Toutain A, Bonneau D, Nielsen IK, Lund IB, Bogaard P, Leenskjold S, Karaer K, Wild KT, Grand KL, Astiazaran MC, Gonzalez-Nieto LA, Carvalho A, Lehalle D, Amudhavalli SM, Repnikova E, Saunders C, Thiffault I, Saadi I, Li D, Hakonarson H, Vial Y, Zackai E, Callier P, Drunat S, Verloes A.
    Eur J Med Genet; 2019 Dec; 62(12):103588. PubMed ID: 30472488
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  • 11. Brachydactylic multiple delta phalanges plus syndrome.
    Ahn CP, Lachman RS, Cox VA, Blumberg B, Klein OD.
    Am J Med Genet A; 2005 Sep 15; 138(1):41-4. PubMed ID: 16092122
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  • 14. 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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  • 15. [The hand-foot-uterus syndrome. A report of a case with recessive autosomal inheritance].
    Stella NC, Triolo O, Corrado F.
    Minerva Ginecol; 1993 Sep 29; 45(9):429-32. PubMed ID: 8255504
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  • 18. 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 29; 170(7):1754-62. PubMed ID: 27112773
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  • 20. Terminal 2q37 deletion and autistic behaviour.
    Lukusa T, Smeets E, Vogels A, Vermeesch JR, Fryns JP.
    Genet Couns; 2005 Jul 29; 16(2):179-80. PubMed ID: 16080299
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