Found: 7
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Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
KBP–cytoskeleton interactions underlie developmental anomalies in Goldberg–Shprintzen syndrome.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 12, p. 2387
- By:
- Publication type:
- Article
Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1627, doi. 10.1002/pd.6268
- By:
- Publication type:
- Article
COMMD1-Mediated Ubiquitination Regulates CFTR Trafficking.
- Published in:
- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0018334
- By:
- Publication type:
- Article
Induced pluripotent stem cell generation from a man carrying a complex chromosomal rearrangement as a genetic model for infertility studies.
- Published in:
- Scientific Reports, 2017, p. 39760, doi. 10.1038/srep39760
- By:
- Publication type:
- Article
iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17337-2
- By:
- Publication type:
- Article
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1645
- By:
- Publication type:
- Article