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64. Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures. Au PY; Argiropoulos B; Parboosingh JS; Micheil Innes A Am J Med Genet A; 2014 Feb; 164A(2):441-8. PubMed ID: 24357076 [TBL] [Abstract][Full Text] [Related]
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70. 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; 536(1):145-50. PubMed ID: 24291026 [TBL] [Abstract][Full Text] [Related]
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73. Identification of novel candidate disease genes from de novo exonic copy number variants. Gambin T; Yuan B; Bi W; Liu P; Rosenfeld JA; Coban-Akdemir Z; Pursley AN; Nagamani SCS; Marom R; Golla S; Dengle L; Petrie HG; Matalon R; Emrick L; Proud MB; Treadwell-Deering D; Chao HT; Koillinen H; Brown C; Urraca N; Mostafavi R; Bernes S; Roeder ER; Nugent KM; Bader PI; Bellus G; Cummings M; Northrup H; Ashfaq M; Westman R; Wildin R; Beck AE; Immken L; Elton L; Varghese S; Buchanan E; Faivre L; Lefebvre M; Schaaf CP; Walkiewicz M; Yang Y; Kang SL; Lalani SR; Bacino CA; Beaudet AL; Breman AM; Smith JL; Cheung SW; Lupski JR; Patel A; Shaw CA; Stankiewicz P Genome Med; 2017 Sep; 9(1):83. PubMed ID: 28934986 [TBL] [Abstract][Full Text] [Related]
74. Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication. Wang HD; Liu L; Wu D; Li T; Cui CY; Zhang LZ; Wang CZ J Gene Med; 2017 Apr; 19(4):. PubMed ID: 28220983 [TBL] [Abstract][Full Text] [Related]
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76. Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report. Danyel M; Suk EK; Raile V; Gellermann J; Knaus A; Horn D BMC Med Genomics; 2019 Jan; 12(1):6. PubMed ID: 30630535 [TBL] [Abstract][Full Text] [Related]
77. A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency. Hu X; Liu J; Guo R; Guo J; Zhao Z; Li W; Xu B; Hao C Mol Cytogenet; 2019; 12():51. PubMed ID: 31890031 [TBL] [Abstract][Full Text] [Related]
78. A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis. Mimouni-Bloch A; Yeshaya J; Kahana S; Maya I; Basel-Vanagaite L Eur J Paediatr Neurol; 2015 Nov; 19(6):711-5. PubMed ID: 26278498 [TBL] [Abstract][Full Text] [Related]
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