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Journal Abstract Search


153 related items for PubMed ID: 27739185

  • 21. The Lacrimo-Auriculo-Dento-Digital (LADD) syndrome: temporal bone CT findings.
    Lemmerling MM, Vanzieleghem BD, Dhooge IJ, Van Cauwenberge PB, Kunnen MF.
    J Comput Assist Tomogr; 1999; 23(3):362-4. PubMed ID: 10348439
    [Abstract] [Full Text] [Related]

  • 22. Microtia grade as an indicator of middle ear development in aural atresia.
    Kountakis SE, Helidonis E, Jahrsdoerfer RA.
    Arch Otolaryngol Head Neck Surg; 1995 Aug; 121(8):885-6. PubMed ID: 7619415
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  • 23. A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia.
    Sotos J, Miller K, Corsmeier D, Tokar N, Kelly B, Nadella V, Zhong H, Wetzel A, Adler B, Yu CY, White P.
    Int J Pediatr Endocrinol; 2017 Aug; 2017():12. PubMed ID: 29046692
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  • 24. Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome.
    Zampino G, Colosimo C, Balducci F, Mariotti P, Serra F, Scarano G, Mastroiacovo P.
    Clin Genet; 1994 Mar; 45(3):140-4. PubMed ID: 8026105
    [Abstract] [Full Text] [Related]

  • 25. Unilateral congenital malformations of middle ear with intact external ear: a review of 64 cases.
    Tang C, Zhang J, Yang S, Han D, Han W.
    Eur Arch Otorhinolaryngol; 2018 Oct; 275(10):2467-2472. PubMed ID: 30159731
    [Abstract] [Full Text] [Related]

  • 26. Otologic management in children with the CHARGE association.
    Shah UK, Ohlms LA, Neault MW, Willson KD, McGuirt WF, Hobbs N, Jones DT, McGill TJ, Healy GB.
    Int J Pediatr Otorhinolaryngol; 1998 Jul 10; 44(2):139-47. PubMed ID: 9725530
    [Abstract] [Full Text] [Related]

  • 27. Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome.
    Rosa F, Coutinho MB, Ferreira JP, Sousa CA.
    Acta Otorrinolaringol Esp; 2016 Jul 10; 67(3):142-7. PubMed ID: 26025357
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  • 28. JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance.
    Hoeve HL, Brooks AS, Smit LS.
    Int J Pediatr Otorhinolaryngol; 2015 Jul 10; 79(7):1164-70. PubMed ID: 25998214
    [Abstract] [Full Text] [Related]

  • 29. Reporting and Description for Congenital Middle Ear Malformations to Facilitate Surgical Management.
    Yang F, Liu Y.
    Ann Otol Rhinol Laryngol; 2018 Oct 10; 127(10):717-725. PubMed ID: 30091369
    [Abstract] [Full Text] [Related]

  • 30. Congenital malformations of the middle ear with an intact external ear: a review of 38 cases.
    Baba S, Ikezono T, Pawankar R, Yagi T.
    ORL J Otorhinolaryngol Relat Spec; 2004 Oct 10; 66(2):74-9. PubMed ID: 15162005
    [Abstract] [Full Text] [Related]

  • 31. High-resolution computed tomography evaluation of congenital aural atresia - how useful is this?
    Gautam R, Kumar J, Pradhan GS, Passey JC, Meher R, Mehndiratta A.
    J Laryngol Otol; 2020 Jul 10; 134(7):610-622. PubMed ID: 32686623
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  • 32. DOOR syndrome: A case report and its embryological basis.
    Santos M, Reis-Rego Â, Coutinho M, Almeida E Sousa C.
    Int J Pediatr Otorhinolaryngol; 2019 Feb 10; 117():57-60. PubMed ID: 30579089
    [Abstract] [Full Text] [Related]

  • 33. Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation.
    Ko JM, Lim BC, Kim KJ, Hwang YS, Ryu HW, Lee JH, Kim JS, Chae JH.
    Childs Nerv Syst; 2013 Apr 10; 29(4):525-9. PubMed ID: 23400866
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  • 34. Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.
    Beste C, Ocklenburg S, von der Hagen M, Di Donato N.
    Brain Struct Funct; 2016 Jun 10; 221(5):2487-91. PubMed ID: 25930014
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  • 35. A patient with Charlie M Syndrome: Differential diagnosis of Oromandibular Limb Hypogenesis Syndromes.
    Jung O, Smeets R, Hanken H, Friedrich RE, Heiland M, Tagniha A, Labow B.
    Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2016 Jun 10; 160(2):310-5. PubMed ID: 27132808
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  • 36. Craniosynostosis with Marfan syndrome, hand and foot anomalies.
    Shah AM, Chattopadhyay A, Kher A, Bharucha BA, Karapurkar AP.
    Clin Dysmorphol; 1996 Jul 10; 5(3):263-6. PubMed ID: 8818457
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  • 37. [Unusual facies with delayed development and multiple malformations in a 14-month-old boy].
    Lu T, Wang Y.
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Aug 10; 19(8):921-925. PubMed ID: 28774369
    [Abstract] [Full Text] [Related]

  • 38. Deletion mapping of split hand/split foot malformation with hearing impairment: a case report.
    Fukushima K, Nagai K, Tsukada H, Sugata A, Sugata K, Kasai N, Kibayashi N, Maeda Y, Gunduz M, Nishizaki K.
    Int J Pediatr Otorhinolaryngol; 2003 Oct 10; 67(10):1127-32. PubMed ID: 14550969
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  • 39. How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
    Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Mégarbané A.
    Am J Med Genet A; 2011 Apr 10; 155A(4):880-4. PubMed ID: 21416592
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  • 40. Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.
    Herenger Y, Stoetzel C, Schaefer E, Scheidecker S, Manière MC, Pelletier V, Alembik Y, Christmann D, Clavert JM, Terzic J, Fischbach M, De Saint Martin A, Dollfus H.
    Eur J Med Genet; 2015 Sep 10; 58(9):479-87. PubMed ID: 26188272
    [Abstract] [Full Text] [Related]


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