Found: 9
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SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3528, doi. 10.1093/brain/awad033
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- Article
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 6, p. 2285, doi. 10.1093/brain/awac461
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- Article
ENU-induced Mutation in the DNA-binding Domain of KLF3 Reveals Important Roles for KLF3 in Cardiovascular Development and Function in Mice.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 7, p. 1, doi. 10.1371/journal.pgen.1003612
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- Article
The Apelin receptor enhances Nodal/TGFβ signaling to ensure proper cardiac development.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.13758
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- Article
A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 3, p. 299, doi. 10.1111/cge.13804
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- Article
The PPFIA1-PP2A protein complex promotes trafficking of Kif7 to the ciliary tip and Hedgehog signaling.
- Published in:
- Science Signaling, 2014, v. 7, n. 355, p. 1, doi. 10.1126/scisignal.2005608
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- Article
Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 663, doi. 10.1002/ajmg.a.61071
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- Article
Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 450, doi. 10.1002/ajmg.a.38570
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- Article
A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1821
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- Article