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Journal Abstract Search

347 related items for PubMed ID: 24300712

  • 1. Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.
    Nicholl J, Waters W, Mulley JC, Suwalski S, Brown S, Hull Y, Barnett C, Haan E, Thompson EM, Liebelt J, Mcgregor L, Harbord MG, Entwistle J, Munt C, White D, Chitti A, Baulderstone D, Ketteridge D, Array Referral Consortium, Friend K, Bain SM, Yu S.
    Pathology; 2014 Jan; 46(1):41-5. PubMed ID: 24300712
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  • 2. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
    Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, Filippi T, Carey JC.
    Eur J Paediatr Neurol; 2013 Nov; 17(6):589-99. PubMed ID: 23711909
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  • 7. [Molecular diagnosis of children with unexplained intellectual disability/ developmental delay by array-CGH].
    He XY, Chen XC, Li R, Li P, Lu AM.
    Zhongguo Dang Dai Er Ke Za Zhi; 2015 May; 17(5):459-63. PubMed ID: 26014695
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  • 8. Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.
    Nicholl J, Waters W, Suwalski S, Brown S, Hull Y, Harbord MG, Entwistle J, Thompson S, Clark D, Pridmore C, Haan E, Barnett C, McGregor L, Liebelt J, Thompson EM, Friend K, Bain SM, Yu S, Mulley JC.
    Am J Med Genet B Neuropsychiatr Genet; 2013 Jan; 162B(1):24-35. PubMed ID: 23184456
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  • 10. Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
    Bartnik M, Szczepanik E, Derwińska K, Wiśniowiecka-Kowalnik B, Gambin T, Sykulski M, Ziemkiewicz K, Kędzior M, Gos M, Hoffman-Zacharska D, Mazurczak T, Jeziorek A, Antczak-Marach D, Rudzka-Dybała M, Mazurkiewicz H, Goszczańska-Ciuchta A, Zalewska-Miszkurka Z, Terczyńska I, Sobierajewicz M, Shaw CA, Gambin A, Mierzewska H, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P.
    Am J Med Genet B Neuropsychiatr Genet; 2012 Oct; 159B(7):760-71. PubMed ID: 22825934
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  • 11. Array CGH analysis of a cohort of Russian patients with intellectual disability.
    Kashevarova AA, Nazarenko LP, Skryabin NA, Salyukova OA, Chechetkina NN, Tolmacheva EN, Sazhenova EA, Magini P, Graziano C, Romeo G, Kučinskas V, Lebedev IN.
    Gene; 2014 Feb 15; 536(1):145-50. PubMed ID: 24291026
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  • 13. 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
    Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J.
    Eur J Med Genet; 2015 Mar 15; 58(3):140-7. PubMed ID: 25596525
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  • 14. Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
    Di Gregorio E, Riberi E, Belligni EF, Biamino E, Spielmann M, Ala U, Calcia A, Bagnasco I, Carli D, Gai G, Giordano M, Guala A, Keller R, Mandrile G, Arduino C, Maffè A, Naretto VG, Sirchia F, Sorasio L, Ungari S, Zonta A, Zacchetti G, Talarico F, Pappi P, Cavalieri S, Giorgio E, Mancini C, Ferrero M, Brussino A, Savin E, Gandione M, Pelle A, Giachino DF, De Marchi M, Restagno G, Provero P, Cirillo Silengo M, Grosso E, Buxbaum JD, Pasini B, De Rubeis S, Brusco A, Ferrero GB.
    Clin Genet; 2017 Oct 15; 92(4):415-422. PubMed ID: 28295210
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  • 15. Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China.
    Wang R, Lei T, Fu F, Li R, Jing X, Yang X, Liu J, Li D, Liao C.
    Pediatr Neonatol; 2019 Feb 15; 60(1):35-42. PubMed ID: 29631977
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  • 16. [The diagnostic value of chromosome microarray analysis technique in the genetic causes of children with intellectual disability or global developmental delay].
    Wu HR, Li L, Ma YN, Liu CL, Pei P, Zheng XF, Wang ST, Xiao Y, Bu DF, Xu YF, Pan H, Qi Y.
    Zhonghua Yi Xue Za Zhi; 2021 Jan 19; 101(3):224-228. PubMed ID: 33455150
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  • 17. RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability.
    Baglietto MG, Caridi G, Gimelli G, Mancardi M, Prato G, Ronchetto P, Cuoco C, Tassano E.
    Eur J Med Genet; 2014 Jan 19; 57(1):44-6. PubMed ID: 24355400
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  • 18. Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.
    Wang P, Carrion P, Qiao Y, Tyson C, Hrynchak M, Calli K, Lopez-Rangel E, Andrieux J, Delobel B, Duban-Bedu B, Thuresson AC, Annerén G, Liu X, Rajcan-Separovic E, Suzanne Lewis ME.
    Eur J Med Genet; 2013 Aug 19; 56(8):420-5. PubMed ID: 23727450
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  • 19. Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil.
    Vianna GS, Medeiros PF, Alves AF, Silva TO, Jehee FS.
    Genet Mol Res; 2016 Feb 19; 15(1):. PubMed ID: 26909975
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