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An instructive role for Interleukin-7 receptor α in the development of human B-cell precursor leukemia.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-28218-7
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- Publication type:
- Article
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.
- Published in:
- 2017
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- Publication type:
- journal article
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 1, p. e254, doi. 10.1210/clinem/dgab597
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- Publication type:
- Article
An instructive role for Interleukin-7 receptor α in the development of human B-cell precursor leukemia.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-28218-7
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- Publication type:
- Article
Tooth development is independent of a Hox patterning programme.
- Published in:
- Developmental Dynamics, 2002, v. 225, n. 3, p. 332, doi. 10.1002/dvdy.10168
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- Publication type:
- Article
Pancreatic β-cell K channels: Hypoglycaemia and hyperglycaemia.
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- Reviews in Endocrine & Metabolic Disorders, 2010, v. 11, n. 3, p. 157, doi. 10.1007/s11154-010-9144-2
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- Article
Contribution of pks<sup>+</sup>E. coli mutations to colorectal carcinogenesis.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-43329-5
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- Article
3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity.
- Published in:
- 2009
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- Publication type:
- journal article
A single base-pair deletion in the WFS1 gene causes Wolfram syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 5/6, p. 389, doi. 10.1515/jpem.2011.215
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- Publication type:
- Article
A single base-pair deletion in the WFS1 gene causes Wolfram syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 5/6, p. 389, doi. 10.1515/JPEM.2011.215
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- Publication type:
- Article
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 385, doi. 10.1007/s10545-017-0025-7
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- Publication type:
- Article
Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 589, doi. 10.1007/s10545-011-9441-2
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- Publication type:
- Article
Retinoic acid down-regulates Tbx1 expression in vivo and in vitro.
- Published in:
- Developmental Dynamics, 2005, v. 232, n. 4, p. 928
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- Publication type:
- Article
Severe Resistance to Weight Gain, Lack of Stored Triglycerides in Adipose Tissue, Hypoglycaemia, and Increased Energy Expenditure: A Novel Disorder of Energy Homeostasis.
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- Hormone Research in Paediatrics, 2012, v. 77, n. 4, p. 261, doi. 10.1159/000337248
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- Article
Four novel cases of permanent neonatal diabetes mellitus caused by homozygous mutations in the glucokinase gene.
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- Pediatric Diabetes, 2011, v. 12, n. 3pt1, p. 192, doi. 10.1111/j.1399-5448.2010.00683.x
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- Article
Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome.
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- Pediatric Diabetes, 2009, v. 10, n. 3, p. 193, doi. 10.1111/j.1399-5448.2008.00470.x
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- Publication type:
- Article
Genetic Analyses in Small-for-Gestational-Age Newborns.
- Published in:
- 2018
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- Publication type:
- journal article
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 12, p. 2257, doi. 10.1093/hmg/ddp161
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- Publication type:
- Article
Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.
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- Journal of Crohn's & Colitis, 2017, v. 11, n. 1, p. 60, doi. 10.1093/ecco-jcc/jjw118
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- Publication type:
- Article
Generation and trapping of a mesoderm biased state of human pluripotency.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18727-8
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- Publication type:
- Article