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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

398 related items for PubMed ID: 29681106

  • 21. Two cases of Nicolaides-Baraitser syndrome, one with a novel SMARCA2 variant.
    Karaer K.
    Clin Dysmorphol; 2020 Oct; 29(4):189-192. PubMed ID: 32657847
    [Abstract] [Full Text] [Related]

  • 22.
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  • 23. Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.
    Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N.
    Am J Med Genet A; 2016 Oct; 170(10):2662-70. PubMed ID: 27264538
    [Abstract] [Full Text] [Related]

  • 24. Novel EED mutation in patient with Weaver syndrome.
    Cooney E, Bi W, Schlesinger AE, Vinson S, Potocki L.
    Am J Med Genet A; 2017 Feb; 173(2):541-545. PubMed ID: 27868325
    [Abstract] [Full Text] [Related]

  • 25. Niikawa-Kuroki (Kabuki) syndrome in two siblings.
    Frediani T, Lucarelli S, Bruni L.
    Minerva Pediatr; 2001 Feb; 53(1):43-8. PubMed ID: 11309542
    [Abstract] [Full Text] [Related]

  • 26. A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
    Frosk P, Chodirker B, Simard L, El-Matary W, Hanlon-Dearman A, Schwartzentruber J, Majewski J, FORGE Canada Consortium, Rockman-Greenberg C.
    BMC Med Genet; 2015 Apr 30; 16():28. PubMed ID: 25925991
    [Abstract] [Full Text] [Related]

  • 27. Kaufman oculocerebrofacial syndrome in a girl of 15 years.
    Briscioli V, Manoukian S, Selicorni A, Livini E, Lalatta F.
    Am J Med Genet; 1995 Jul 31; 58(1):21-3. PubMed ID: 7573151
    [Abstract] [Full Text] [Related]

  • 28. 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 31; 45(3):140-4. PubMed ID: 8026105
    [Abstract] [Full Text] [Related]

  • 29. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
    Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA.
    Mol Genet Genomic Med; 2021 Oct 31; 9(10):e1809. PubMed ID: 34519438
    [Abstract] [Full Text] [Related]

  • 30. Intellectual disability, unusual facial morphology and hand anomalies in sibs.
    Sousa SB, Venâncio M, Chanudet E, Palmer R, Ramos L, Beales PL, Moore GE, Saraiva JM, Hennekam RC.
    Am J Med Genet A; 2013 Oct 31; 161A(10):2401-6. PubMed ID: 23949889
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  • 32. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
    Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D.
    Eur J Hum Genet; 2015 May 31; 23(5):633-8. PubMed ID: 24916641
    [Abstract] [Full Text] [Related]

  • 33.
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  • 34. A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.
    Marangi G, Di Giacomo MC, Lattante S, Orteschi D, Patrizi S, Doronzio PN, Riviello FN, Vaisfeld A, Frangella S, Zollino M.
    Am J Med Genet A; 2018 Feb 31; 176(2):455-459. PubMed ID: 29226580
    [Abstract] [Full Text] [Related]

  • 35. A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.
    Sullivan JA, Stong N, Baugh EH, McDonald MT, Takeuchi A, Shashi V.
    Am J Med Genet A; 2020 Aug 31; 182(8):1947-1951. PubMed ID: 32445275
    [Abstract] [Full Text] [Related]

  • 36. Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case.
    Lestner JM, Chong WK, Offiiah A, Kefas J, Vandersteen AM.
    Clin Dysmorphol; 2012 Jul 31; 21(3):152-154. PubMed ID: 22473152
    [No Abstract] [Full Text] [Related]

  • 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 31; 19(8):921-925. PubMed ID: 28774369
    [Abstract] [Full Text] [Related]

  • 38.
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  • 39. Autosomal recessive multiple pterygium syndrome: a new variant?
    Aslan Y, Erduran E, Kutlu N.
    Am J Med Genet; 2000 Jul 31; 93(3):194-7. PubMed ID: 10925380
    [Abstract] [Full Text] [Related]

  • 40. Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability.
    Tas E, Sebastian J, Madan-Khetarpal S, Sweet P, Yatsenko AN, Pollock N, Rajkovic A, Schneck FX, Yatsenko SA, Witchel SF.
    Am J Med Genet A; 2017 Jan 31; 173(1):221-224. PubMed ID: 27649277
    [Abstract] [Full Text] [Related]

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