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Journal Abstract Search

392 related items for PubMed ID: 9409870

  • 21. Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome?
    Kirel B, Kural N, Yakut A, Adapinar B.
    Turk J Pediatr; 2000; 42(2):171-6. PubMed ID: 10936989
    [Abstract] [Full Text] [Related]

  • 22. [Brain abnormality within the scope of a VACTERL association].
    Nikischin W, Krolikowski I, Santer R.
    Monatsschr Kinderheilkd; 1991 Jun; 139(6):360-2. PubMed ID: 1896049
    [Abstract] [Full Text] [Related]

  • 23. Café au lait macules and cerebro-oculo-facio-skeletal syndrome: a novel association.
    Twede JV, Difazio M.
    Pediatr Dermatol; 2009 Jun; 26(1):97-9. PubMed ID: 19250421
    [Abstract] [Full Text] [Related]

  • 24. Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism?
    Ioan DM, Fryns JP.
    Genet Couns; 2003 Jun; 14(4):431-3. PubMed ID: 14738118
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  • 25. [Aicardi syndrome].
    Ramos E, Rodríguez-Vigil E, Alonso A, Suárez E, Poo P, Sánchez M, Miguel MA, Menéndez M, Castillo J.
    An Esp Pediatr; 1982 Apr; 16(4):352-7. PubMed ID: 7125395
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  • 26. Siblings with Bohring-Opitz syndrome.
    Greenhalgh KL, Newbury-Ecob RA, Lunt PW, Dolling CL, Hargreaves H, Smithson SF.
    Clin Dysmorphol; 2003 Jan; 12(1):15-9. PubMed ID: 12514360
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  • 28. Agenesis of the corpus callosum: clinical and genetic study in 63 young patients.
    Bedeschi MF, Bonaglia MC, Grasso R, Pellegri A, Garghentino RR, Battaglia MA, Panarisi AM, Di Rocco M, Balottin U, Bresolin N, Bassi MT, Borgatti R.
    Pediatr Neurol; 2006 Mar; 34(3):186-93. PubMed ID: 16504787
    [Abstract] [Full Text] [Related]

  • 29. A new syndrome: congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay.
    Braddock SR, Carey JC.
    Clin Dysmorphol; 1994 Jan; 3(1):75-81. PubMed ID: 7515754
    [Abstract] [Full Text] [Related]

  • 30. Agenesis of the corpus callosum and cerebral anomalies in inborn errors of metabolism.
    Prasad AN, Bunzeluk K, Prasad C, Chodirker BN, Magnus KG, Greenberg CR.
    Congenit Anom (Kyoto); 2007 Dec; 47(4):125-35. PubMed ID: 17988254
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  • 31. [Three patients of complicated form of autosomal recessive hereditary spastic paraplegia associated with hypoplasia of the corpus callosum].
    Iwabuchi K, Kubota Y, Hanihara T, Nagatomo H.
    No To Shinkei; 1994 Oct; 46(10):941-7. PubMed ID: 7826709
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  • 34. Multiple congenital anomalies/mental retardation syndrome with multiple circumferential skin creases: a new syndrome?
    Tinsa F, Aissa K, Meddeb M, Bousnina D, Boussetta K, Bousnina S.
    J Child Neurol; 2009 Feb; 24(2):224-7. PubMed ID: 19182162
    [Abstract] [Full Text] [Related]

  • 35. Distinct familial syndrome of severe to profound mental retardation, spastic paraplegia with contrasting axial hypotonia, short stature and distinct craniofacial appearance with nasal hypoplasia.
    Fryns JP, Devriendt K, Detroch C, Decock P.
    Genet Couns; 1998 Feb; 9(1):51-4. PubMed ID: 9555588
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  • 37. Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.
    Tegay DH, Chan KK, Leung L, Wang C, Burkett S, Stone G, Stanyon R, Toriello HV, Hatchwell E.
    Clin Genet; 2009 Mar; 75(3):259-64. PubMed ID: 19170718
    [Abstract] [Full Text] [Related]

  • 38. A case of Joubert's syndrome with extensive cerebral malformations.
    ten Donkelaar HJ, Hoevenaars F, Wesseling P.
    Clin Neuropathol; 2000 Mar; 19(2):85-93. PubMed ID: 10749289
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  • 39. Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney.
    Skórka A, Bielicka-Cymermann J, Gieruszczak-Białek D, Korniszewski L.
    Genet Couns; 2005 Mar; 16(4):377-82. PubMed ID: 16440880
    [Abstract] [Full Text] [Related]

  • 40. Megalocornea and mental retardation syndrome: a new case.
    Grønbech-Jensen M.
    Am J Med Genet; 1989 Apr; 32(4):468-9. PubMed ID: 2672814
    [Abstract] [Full Text] [Related]

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