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PUBMED FOR HANDHELDS

Journal Abstract Search

133 related items for PubMed ID: 24357613

  • 21. Temple-Baraitser syndrome: a rare and possibly unrecognized condition.
    Jacquinet A, Gérard M, Gabbett MT, Rausin L, Misson JP, Menten B, Mortier G, Van Maldergem L, Verloes A, Debray FG.
    Am J Med Genet A; 2010 Sep; 152A(9):2322-6. PubMed ID: 20683999
    [Abstract] [Full Text] [Related]

  • 22. Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
    Takeuchi A, Okamoto N, Fujinaga S, Morita H, Shimizu J, Akiyama T, Ninomiya S, Takanashi J, Kubo T.
    Eur J Med Genet; 2015 Aug; 58(8):369-71. PubMed ID: 26096993
    [Abstract] [Full Text] [Related]

  • 23. 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; 58(9):479-87. PubMed ID: 26188272
    [Abstract] [Full Text] [Related]

  • 24. A case of onycotricodysplasia with intellectual disability, without neutropenia.
    Ikbal M, Eker HK, Tos T, Alp MY, Cebi AH.
    Genet Couns; 2012 Sep; 23(3):389-92. PubMed ID: 23072187
    [Abstract] [Full Text] [Related]

  • 25. Rubinstein-Taybi syndrome.
    Lowry MF.
    JAMA; 1968 Dec 16; 206(12):2744. PubMed ID: 5754899
    [No Abstract] [Full Text] [Related]

  • 26. Mental retardation, unusual facies, and abnormal nails associated with a group-G ring chromosome. A case report on two unrelated cases.
    Dubowitz V, Cooke P, Colver D, Harris F.
    J Med Genet; 1971 Jun 16; 8(2):195-201. PubMed ID: 4328883
    [No Abstract] [Full Text] [Related]

  • 27. Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.
    Napoli G, Panzironi N, Traversa A, Catalanotto C, Pace V, Petrizzelli F, Giovannetti A, Lazzari S, Cogoni C, Tartaglia M, Carella M, Mazza T, Pizzuti A, Parisi C, Caputo V.
    Mol Neurobiol; 2022 Aug 16; 59(8):4825-4838. PubMed ID: 35639255
    [Abstract] [Full Text] [Related]

  • 28. Case 2: Red Toes in a 17-day-old Boy.
    Sears W, Perez C, Shriner A.
    Pediatr Rev; 2018 Jun 16; 39(6):311. PubMed ID: 29858294
    [No Abstract] [Full Text] [Related]

  • 29. Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.
    Yang X, Li M, Qi Q, Zhou X, Hao N, Lü Y, Jiang Y.
    BMC Med Genomics; 2024 Aug 29; 17(1):222. PubMed ID: 39210340
    [Abstract] [Full Text] [Related]

  • 30.
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  • 31. Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands.
    Alessandri JL, Cuillier F, Malan V, Brayer C, Grondard M, Jacquemot-Dekkak L, Kieffer-Traversier M, Pierre F, Laurain C, Samperiz S, Tiran-Rajaofera I, Ramful D.
    Am J Med Genet A; 2014 Mar 29; 164A(3):648-54. PubMed ID: 24357154
    [Abstract] [Full Text] [Related]

  • 32. The Coffin-Siris syndrome: report of a family and further delineation.
    Haspeslagh M, Fryns JP, van den Berghe H.
    Clin Genet; 1984 Oct 29; 26(4):374-8. PubMed ID: 6499251
    [Abstract] [Full Text] [Related]

  • 33.
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  • 34. Is this the Coffin-Siris syndrome or the BOD syndrome?
    Brautbar A, Ragsdale J, Shinawi M.
    Am J Med Genet A; 2009 Mar 29; 149A(3):559-62. PubMed ID: 19215055
    [No Abstract] [Full Text] [Related]

  • 35. Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.
    Liu WL, He ZX, Li F, Ai R, Ma HW.
    J Genet; 2018 Mar 29; 97(1):35-46. PubMed ID: 29666323
    [Abstract] [Full Text] [Related]

  • 36. Phenotype-genotype complexities: opening DOORS.
    Berkovic SF, Gecz J.
    Lancet Neurol; 2014 Jan 29; 13(1):24-5. PubMed ID: 24291219
    [No Abstract] [Full Text] [Related]

  • 37. 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 29; 117():57-60. PubMed ID: 30579089
    [Abstract] [Full Text] [Related]

  • 38. Keratosis follicularis. A study of one family.
    Getzler NA, Flint A.
    Arch Dermatol; 1966 May 29; 93(5):545-9. PubMed ID: 5940918
    [No Abstract] [Full Text] [Related]

  • 39. A case resembling broad thumb-hallux syndrome.
    Ishikawa B, Ikeda K, Nanko S, Asaka A.
    Jinrui Idengaku Zasshi; 1974 Jun 29; 19(1):87-8. PubMed ID: 4476872
    [No Abstract] [Full Text] [Related]

  • 40. Bilateral delta phalanx of the proximal phalanges of the great toes. A report on an affected family.
    Neil MJ, Conacher C.
    J Bone Joint Surg Br; 1984 Jan 29; 66(1):77-80. PubMed ID: 6693482
    [Abstract] [Full Text] [Related]

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