Found: 13
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Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0314-x
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- Publication type:
- Article
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
- Published in:
- 2015
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- Publication type:
- journal article
ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison.
- Published in:
- 2018
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- Publication type:
- journal article
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.
- Published in:
- Human Genetics, 2001, v. 108, n. 2, p. 91, doi. 10.1007/s004390100461
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- Publication type:
- Article
Extended evaluation of serotonin transporter gene functional polymorphisms in subjects with post-stroke depression.
- Published in:
- 2008
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- Publication type:
- journal article
Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (c Nyx) from chick.
- Published in:
- Mammalian Genome, 2005, v. 16, n. 10, p. 815, doi. 10.1007/s00335-005-0018-y
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- Publication type:
- Article
Developmental topographical disorientation and decreased hippocampal functional connectivity.
- Published in:
- Hippocampus, 2014, v. 24, n. 11, p. 1364, doi. 10.1002/hipo.22317
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- Publication type:
- Article
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 15, p. 2405, doi. 10.1093/hmg/ddn140
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- Publication type:
- Article
Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 20, p. 3035, doi. 10.1093/hmg/ddi336
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- Publication type:
- Article
Analysis of PAC1 receptor gene variants in Caucasian and African American infants dying of sudden infant death syndrome.
- Published in:
- Acta Paediatrica, 2013, v. 102, n. 12, p. e546, doi. 10.1111/apa.12405
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- Publication type:
- Article
Sudden infant death syndrome (SIDS) in African Americans: polymorphisms in the gene encoding the stress peptide pituitary adenylate cyclase-activating polypeptide (PACAP).
- Published in:
- Acta Paediatrica, 2009, v. 98, n. 3, p. 482, doi. 10.1111/j.1651-2227.2008.01131.x
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- Publication type:
- Article
Loss-of-function mutations in a calcium-channel α<sub>1</sub>-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
- Published in:
- Nature Genetics, 1998, v. 19, n. 3, p. 264, doi. 10.1038/947
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- Publication type:
- Article
Amygdala responses to quetiapine XR and citalopram treatment in major depression: the role of 5-HTTLPR-S/Lg polymorphisms.
- Published in:
- Human Psychopharmacology: Clinical & Experimental, 2016, v. 31, n. 2, p. 144, doi. 10.1002/hup.2521
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- Publication type:
- Article