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Items: 3

1.

A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.

Mancini C, Zonta A, Botta G, Breda Klobus A, Valbonesi S, Pasini B, Giorgio E, Viora E, Brusco A, Brussino A.

Eur J Med Genet. 2018 Nov 13. pii: S1769-7212(18)30398-7. doi: 10.1016/j.ejmg.2018.11.012. [Epub ahead of print]

PMID:
30445150
2.

A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews.

Ben-Shachar S, Zvi T, Rolfs A, Breda Klobus A, Yaron Y, Bar-Shira A, Orr-Urtreger A.

Mol Genet Metab. 2012 Nov;107(3):608-10. doi: 10.1016/j.ymgme.2012.08.011. Epub 2012 Aug 18.

PMID:
22947400
3.

[Necrotizing enterocolitis (nec): risk factors and genetic susceptibility].

Somaschini M, Breda-Klobus A, Pacati I.

Minerva Pediatr. 2012 Feb;64(1):33-40. Review. Italian.

PMID:
22350042

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