Found: 7
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Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0304-4
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- Article
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.
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- European Journal of Endocrinology, 2013, v. 167, n. 1, p. K1, doi. 10.1530/EJE-12-0701
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- Article
Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0149-0
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- Article
Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0130-y
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- Article
Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1955, doi. 10.1002/ajmg.a.38271
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- Article
10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2707, doi. 10.1002/ajmg.a.37211
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- Article
Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1991, doi. 10.1002/ajmg.a.36602
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- Article