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Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome
Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical presentation. Patients usually harbor a 1.5 to 3 Mb hemizygous deletion at chromosome 22q11.2, resulting in pathognomic TBX1, CRKL and/or MAPK1 haploinsufficiency. However, there a...
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| Foilsithe in: | J Appl Genet |
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| Main Authors: | , , , , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Springer Berlin Heidelberg
2016
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5243916/ https://ncbi.nlm.nih.gov/pubmed/27629806 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-016-0366-1 |
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