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Journal Abstract Search

589 related items for PubMed ID: 25230004

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  • 2. Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.
    Rajcan-Separovic E, Harvard C, Liu X, McGillivray B, Hall JG, Qiao Y, Hurlburt J, Hildebrand J, Mickelson EC, Holden JJ, Lewis ME.
    J Med Genet; 2007 Apr; 44(4):269-76. PubMed ID: 16963482
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  • 5. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
    Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A.
    Eur J Med Genet; 2017 Sep; 60(9):451-464. PubMed ID: 28645799
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  • 6. CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome.
    Uehara T, Takenouchi T, Yamaguchi Y, Daimon Y, Suzuki H, Sakaguchi Y, Kosaki K.
    Am J Med Genet A; 2019 Apr; 179(4):659-662. PubMed ID: 30768759
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  • 9. 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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  • 11. Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
    Novara F, Rinaldi B, Sisodiya SM, Coppola A, Giglio S, Stanzial F, Benedicenti F, Donaldson A, Andrieux J, Stapleton R, Weber A, Reho P, van Ravenswaaij-Arts C, Kerstjens-Frederikse WS, Vermeesch JR, Devriendt K, Bacino CA, Delahaye A, Maas SM, Iolascon A, Zuffardi O.
    Eur J Hum Genet; 2017 Jun; 25(6):694-701. PubMed ID: 28422132
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  • 13. TWO CASES WITH DIFFERENT EPILEPSY TYPE AND DYSMORPHIC FEATURES ASSOCIATED WITH 17q21.31 MICRODELETION SYNDROME.
    Uctepe E, Aktas D, Alikasifoglu M, Gunduz E, Sonmez FM.
    Genet Couns; 2016 Jun; 27(3):357-365. PubMed ID: 30204964
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  • 14. 19q13 microdeletion syndrome: Further refining the critical region.
    Forzano F, Napoli F, Uliana V, Malacarne M, Viaggi C, Bloise R, Coviello D, Di Maria E, Olivieri I, Di Iorgi N, Faravelli F.
    Eur J Med Genet; 2012 Jun; 55(6-7):429-32. PubMed ID: 22510526
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  • 18. Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.
    Campbell CL, Collins RT, Zarate YA.
    Birth Defects Res A Clin Mol Teratol; 2014 Dec; 100(12):985-90. PubMed ID: 25380126
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  • 20. 19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.
    Gana S, Veggiotti P, Sciacca G, Fedeli C, Bersano A, Micieli G, Maghnie M, Ciccone R, Rossi E, Plunkett K, Bi W, Sutton VR, Zuffardi O.
    Eur J Hum Genet; 2012 Aug; 20(8):852-6. PubMed ID: 22378287
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