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Personal journeys to and in human genetics and dysmorphology.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63514
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- Article
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
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- Frontiers in Psychiatry, 2024, p. 1, doi. 10.3389/fpsyt.2023.1327802
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- Article
Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 173, doi. 10.1111/cge.14445
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- Article
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
- Published in:
- Frontiers in Psychiatry, 2024, p. 1, doi. 10.3389/fpsyt.2023.1327802
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- Publication type:
- Article
Administration of oxathridine, a first‐in‐class histamine‐3 receptor partial agonist in healthy male volunteers: Central nervous system depression and pseudo‐hallucinations.
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- British Journal of Clinical Pharmacology, 2024, v. 90, n. 1, p. 321, doi. 10.1111/bcp.15910
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- Article
Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 13, p. 10712, doi. 10.3390/ijms241310712
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- Article
Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders.
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- Medical Sciences, 2023, v. 11, n. 2, p. 29, doi. 10.3390/medsci11020029
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- Article
Bioavailability and cardiovascular effects of adrenaline administered by Anapen 500 μg auto‐injector in healthy volunteers.
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- British Journal of Clinical Pharmacology, 2023, v. 89, n. 3, p. 1012, doi. 10.1111/bcp.15545
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- Article
Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 167, doi. 10.1111/cge.14248
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- Article
X‐Linked intellectual disability update 2022.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 144, doi. 10.1002/ajmg.a.63008
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- Article
Tachyon Interactions.
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- Symmetry (20738994), 2023, v. 15, n. 1, p. 209, doi. 10.3390/sym15010209
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- Article
Theoretical Search for Gravitational Bound States of Tachyons.
- Published in:
- Particles (2571-712X), 2022, v. 5, n. 3, p. 331, doi. 10.3390/particles5030027
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- Article
A Consistent Theory of Tachyons with Interesting Physics for Neutrinos †.
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- Symmetry (20738994), 2022, v. 14, n. 6, p. N.PAG, doi. 10.3390/sym14061172
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- Article
Tachyons with any spin.
- Published in:
- International Journal of Modern Physics A: Particles & Fields; Gravitation; Cosmology; Nuclear Physics, 2022, v. 37, n. 2, p. 1, doi. 10.1142/S0217751X22500014
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- Article
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.
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- JAMA Network Open, 2022, v. 5, n. 1, p. e2141911, doi. 10.1001/jamanetworkopen.2021.41911
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- Article
Clinical Impact of Pitolisant on Excessive Daytime Sleepiness and Cataplexy in Adults With Narcolepsy: An Analysis of Randomized Placebo-Controlled Trials.
- Published in:
- CNS Drugs, 2022, v. 36, n. 1, p. 61, doi. 10.1007/s40263-021-00886-x
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- Article
Time to Onset of Response to Pitolisant for the Treatment of Excessive Daytime Sleepiness and Cataplexy in Patients With Narcolepsy: An Analysis of Randomized, Placebo-Controlled Trials.
- Published in:
- 2021
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- Publication type:
- journal article
Pitolisant, a wake-promoting agent devoid of psychostimulant properties: Preclinical comparison with amphetamine, modafinil, and solriamfetol.
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- Pharmacology Research & Perspectives, 2021, v. 9, n. 5, p. 1, doi. 10.1002/prp2.855
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- Article
Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability.
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- Human Mutation, 2021, v. 42, n. 7, p. 835, doi. 10.1002/humu.24207
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- Article
In search of the earliest images of symmelia in works of art.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 2, p. 151, doi. 10.1002/ajmg.c.31856
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- Article
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1111, doi. 10.3390/ijms22031111
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- Article
Schimke XLID syndrome results from a deletion in BCAP31.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2168, doi. 10.1002/ajmg.a.61755
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- Article
Exploring occupancy of the histamine H<sub>3</sub> receptor by pitolisant in humans using PET.
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- British Journal of Pharmacology, 2020, v. 177, n. 15, p. 3464, doi. 10.1111/bph.15067
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- Article
Spermine synthase and MYC cooperate to maintain colorectal cancer cell survival by repressing Bim expression.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17067-x
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- Article
Pitolisant for Daytime Sleepiness in Obstructive Sleep Apnea Patients Refusing CPAP: A Randomized Trial.
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- American Journal of Respiratory & Critical Care Medicine, 2020, v. 201, n. 9, p. E1, doi. 10.1164/rccm.201907-1284oc
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- Publication type:
- Article
Pitolisant for Daytime Sleepiness in Patients with Obstructive Sleep Apnea Who Refuse Continuous Positive Airway Pressure Treatment. A Randomized Trial.
- Published in:
- 2020
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- Publication type:
- journal article
Exploring occupancy of the histamine H<sub>3</sub> receptor by pitolisant in humans using PET.
- Published in:
- 2020
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- Publication type:
- journal article
Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree.
- Published in:
- Journal of International Medical Research, 2020, v. 48, n. 4, p. 1, doi. 10.1177/0300060519879293
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- Publication type:
- Article
Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 595, doi. 10.1002/ajmg.a.61443
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- Article
X‐linked intellectual disability: Phenotypic expression in carrier females.
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- Clinical Genetics, 2020, v. 97, n. 3, p. 418, doi. 10.1111/cge.13667
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- Article
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1036
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- Article
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 24, p. 4089, doi. 10.1093/hmg/ddz254
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- Article
An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2357, doi. 10.1002/ajmg.a.61353
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- Article
Current state of clinical trials in breast cancer brain metastases.
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- Neuro-Oncology Practice, 2019, v. 6, n. 5, p. 392, doi. 10.1093/nop/npz003
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- Article
An approach for modeling tachyons with gravitation.
- Published in:
- International Journal of Modern Physics A: Particles & Fields; Gravitation; Cosmology; Nuclear Physics, 2019, v. 34, n. 19, p. N.PAG, doi. 10.1142/S0217751X19501033
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- Article
Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.569
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- Article
Polyamine Homeostasis in Snyder-Robinson Syndrome.
- Published in:
- Medical Sciences, 2018, v. 6, n. 4, p. 112, doi. 10.3390/medsci6040112
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- Article
X‐linked intellectual disability update 2017.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1375, doi. 10.1002/ajmg.a.38710
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- Article
Tachyon dynamics - for neutrinos?
- Published in:
- International Journal of Modern Physics A: Particles & Fields; Gravitation; Cosmology; Nuclear Physics, 2018, v. 33, n. 10, p. -1, doi. 10.1142/S0217751X18500562
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- Publication type:
- Article
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 4, p. 589, doi. 10.1093/hmg/ddx426
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- Article
Peripheral blood epi-signature of Claes- Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C.
- Published in:
- Clinical Epigenetics, 2018, v. 10, p. 1, doi. 10.1186/s13148-018-0453-8
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- Article
Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02462-8
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- Publication type:
- Article
Nonclinical cardiovascular safety of pitolisant: comparing International Conference on Harmonization S7B and Comprehensive in vitro Pro-arrhythmia Assay initiative studies.
- Published in:
- 2017
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- Publication type:
- journal article
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01289-7
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- Publication type:
- Article
Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism.
- Published in:
- Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0168-2
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- Article
Revised theory of tachyons in general relativity.
- Published in:
- Modern Physics Letters A, 2017, v. 32, n. 24, p. -1, doi. 10.1142/S0217732317501267
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- Publication type:
- Article
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 11, p. 2062, doi. 10.1093/hmg/ddx099
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- Publication type:
- Article
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.
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- Epigenetics & Chromatin, 2017, v. 10, p. 1, doi. 10.1186/s13072-017-0118-4
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- Article
Skewed X-inactivation and Females with Intellectual Disability.
- Published in:
- Human Mutation, 2016, v. 37, n. 8, p. 717, doi. 10.1002/humu.23030
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- Article
A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A ( FLNA) mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 881, doi. 10.1002/ajmg.a.37567
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- Article