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1.
Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia.
Nature
; 508(7494): 98-102, 2014 Apr 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-24670643
2.
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
N Engl J Med
; 359(16): 1685-99, 2008 Oct 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-18784092
3.
A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion.
Am J Med Genet A
; 155A(6): 1453-7, 2011 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-21574246
4.
Haploinsufficiency of the nerve growth factor beta gene in a 1p13 deleted female child with an insensitivity to pain.
Dev Med Child Neurol
; 51(10): 833-7, 2009 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-19183217
5.
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
Eur J Hum Genet
; 21(1): 82-8, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-22713806
6.
Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.
Eur J Hum Genet
; 18(10): 1095-9, 2010 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-20485326
7.
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
Eur J Med Genet
; 53(2): 93-9, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-20132918
8.
Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report.
J Med Case Rep
; 2: 355, 2008 Nov 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-19019217
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