Found: 9
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Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2209, doi. 10.1002/ajmg.a.62752
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- Publication type:
- Article
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
- Published in:
- 2017
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- Publication type:
- journal article
The SRG rat, a Sprague-Dawley Rag2/Il2rg double-knockout validated for human tumor oncology studies.
- Published in:
- PLoS ONE, 2020, v. 15, n. 10, p. 1, doi. 10.1371/journal.pone.0240169
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- Publication type:
- Article
Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay.
- Published in:
- Clinical Case Reports, 2015, v. 3, n. 6, p. 396, doi. 10.1002/ccr3.241
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- Publication type:
- Article
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 13, p. 1956, doi. 10.1093/hmg/ddn093
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- Publication type:
- Article
Bardet–Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 5, p. 667, doi. 10.1093/hmg/ddi468
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- Publication type:
- Article
Mkks-null mice have a phenotype resembling Bardet–Biedl syndrome.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 9, p. 1109, doi. 10.1093/hmg/ddi123
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- Publication type:
- Article
Cardiac phenotype in familial partial lipodystrophy.
- Published in:
- Clinical Endocrinology, 2021, v. 94, n. 6, p. 1043, doi. 10.1111/cen.14426
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- Publication type:
- Article
Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort.
- Published in:
- Clinical Endocrinology, 2017, v. 86, n. 5, p. 698, doi. 10.1111/cen.13311
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- Publication type:
- Article