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Journal Abstract Search

345 related items for PubMed ID: 24839169

  • 1. Genetic disorders associated with postnatal microcephaly.
    Seltzer LE, Paciorkowski AR.
    Am J Med Genet C Semin Med Genet; 2014 Jun; 166C(2):140-55. PubMed ID: 24839169
    [Abstract] [Full Text] [Related]

  • 2. If not Angelman, what is it? A review of Angelman-like syndromes.
    Tan WH, Bird LM, Thibert RL, Williams CA.
    Am J Med Genet A; 2014 Apr; 164A(4):975-92. PubMed ID: 24779060
    [Abstract] [Full Text] [Related]

  • 3. Warburg micro syndrome in two children from a highly inbred Turkish family.
    Yildirim MS, Zamani AG, Bozkurt B.
    Genet Couns; 2012 Apr; 23(2):169-74. PubMed ID: 22876574
    [Abstract] [Full Text] [Related]

  • 4. Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
    Gumus E.
    Ophthalmic Genet; 2018 Jun; 39(3):391-395. PubMed ID: 29419336
    [Abstract] [Full Text] [Related]

  • 5. [Warburg-Micro syndrome caused by 1q43-q44 deletion: genotypic and phenotypic analysis in a child].
    Li HH, Shan L, Wang B, DU L, Jia FY.
    Zhongguo Dang Dai Er Ke Za Zhi; 2018 Jul; 20(7):585-587. PubMed ID: 30022763
    [No Abstract] [Full Text] [Related]

  • 6. RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION.
    Tasdemir S, Sahin I, Morris-Rosendahl DJ, Marzioglu E, Cayir A, Yuce I, Tatar A.
    Genet Couns; 2015 Jul; 26(4):415-23. PubMed ID: 26852512
    [Abstract] [Full Text] [Related]

  • 7. Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome.
    Asahina M, Endoh Y, Matsubayashi T, Fukuda T, Ogata T.
    Brain Dev; 2016 Mar; 38(3):337-40. PubMed ID: 26421802
    [Abstract] [Full Text] [Related]

  • 8. X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities.
    Sikora J, Leddy J, Gulinello M, Walkley SU.
    Dis Model Mech; 2016 Jan; 9(1):13-23. PubMed ID: 26515654
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  • 11. A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).
    Zanni G, Barresi S, Cohen R, Specchio N, Basel-Vanagaite L, Valente EM, Shuper A, Vigevano F, Bertini E.
    Epilepsy Res; 2014 May; 108(4):811-5. PubMed ID: 24630051
    [Abstract] [Full Text] [Related]

  • 12. From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients.
    Mutlu Albayrak H, Elçioğlu NH, Yeter B, Karaer K.
    Am J Med Genet A; 2021 Aug; 185(8):2325-2334. PubMed ID: 33951304
    [Abstract] [Full Text] [Related]

  • 13. Consanguinity as an Adjunct Diagnostic Tool.
    Srivastava P, Saxena D, Joshi S, Phadke SR.
    Indian J Pediatr; 2016 Mar; 83(3):258-60. PubMed ID: 26138576
    [Abstract] [Full Text] [Related]

  • 14. RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.
    Handley MT, Aligianis IA.
    Biochem Soc Trans; 2012 Dec 01; 40(6):1394-7. PubMed ID: 23176487
    [Abstract] [Full Text] [Related]

  • 15. Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome.
    Warburg M, Sjö O, Fledelius HC, Pedersen SA.
    Am J Dis Child; 1993 Dec 01; 147(12):1309-12. PubMed ID: 8249951
    [Abstract] [Full Text] [Related]

  • 16. Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran.
    Hozhabri H, Talebi M, Mehrjardi MYV, De Luca A, Dehghani M.
    Am J Med Genet A; 2020 May 01; 182(5):957-961. PubMed ID: 32162791
    [Abstract] [Full Text] [Related]

  • 17. Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.
    Koparir A, Karatas OF, Yilmaz SS, Suer I, Ozer B, Yuceturk B, Ozen M.
    Am J Med Genet A; 2019 Apr 01; 179(4):579-587. PubMed ID: 30730599
    [Abstract] [Full Text] [Related]

  • 18. Christianson syndrome: spectrum of neuroimaging findings.
    Bosemani T, Zanni G, Hartman AL, Cohen R, Huisman TA, Bertini E, Poretti A.
    Neuropediatrics; 2014 Aug 01; 45(4):247-51. PubMed ID: 24285247
    [Abstract] [Full Text] [Related]

  • 19. Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
    Liegel RP, Handley MT, Ronchetti A, Brown S, Langemeyer L, Linford A, Chang B, Morris-Rosendahl DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GM, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, Sidjanin DJ.
    Am J Hum Genet; 2013 Dec 05; 93(6):1001-14. PubMed ID: 24239381
    [Abstract] [Full Text] [Related]

  • 20. Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.
    Abdel-Hamid MS, Abdel-Ghafar SF, Ismail SR, Desouky LM, Issa MY, Effat LK, Zaki MS.
    Clin Genet; 2020 Nov 05; 98(5):445-456. PubMed ID: 32740904
    [Abstract] [Full Text] [Related]

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