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de Sitter Bubbles and the Swampland.
- Published in:
- Fortschritte der Physik / Progress of Physics, 2020, v. 68, n. 11/12, p. 1, doi. 10.1002/prop.202000084
- By:
- Publication type:
- Article
Prolyl Endopeptidase-like Deficiency Associated with Growth Hormone Deficiency.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 2, p. 205, doi. 10.4274/jcrpe.galenos.2021.2021.0128
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- Publication type:
- Article
AXIN1 mutations in nonsyndromic craniosynostosis.
- Published in:
- Journal of Neurosurgery: Pediatrics, 2024, v. 34, n. 3, p. 246, doi. 10.3171/2024.5.PEDS24115
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- Publication type:
- Article
Beyond the disease itself: A cross‐cutting educational initiative for patients and families with rare diseases.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 3, p. 693, doi. 10.1002/jgc4.1354
- By:
- Publication type:
- Article
Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63578
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- Publication type:
- Article
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 135, doi. 10.1002/ajmg.a.63004
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- Publication type:
- Article
Clinical and molecular characterization of five new individuals with WAC‐related intellectual disability: Evidence of pathogenicity for a novel splicing variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1396, doi. 10.1002/ajmg.a.62648
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- Publication type:
- Article
Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 991, doi. 10.1002/ajmg.a.62596
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- Publication type:
- Article
Expanding the phenotype of cerebellar‐facial‐dental syndrome: Two siblings with a novel variant in BRF1.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2742, doi. 10.1002/ajmg.a.61839
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- Publication type:
- Article
Management of aortic disease in children with FBN1-related Marfan syndrome: A joint statement from the paediatric subgroup of the European Reference Network of Vascular Diseases (VASCERN, Heritable Thoracic Aortic Disease working group) and the Association for European Paediatric and Congenital Cardiology (AEPC)
- Published in:
- European Heart Journal, 2024, v. 45, n. 39, p. 4156, doi. 10.1093/eurheartj/ehae526
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- Publication type:
- Article
Automatic constraints generation for semisupervised clustering: experiences with documents classification.
- Published in:
- Soft Computing - A Fusion of Foundations, Methodologies & Applications, 2016, v. 20, n. 6, p. 2329, doi. 10.1007/s00500-015-1643-3
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- Publication type:
- Article
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 15, p. 5003, doi. 10.3390/jcm12155003
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- Publication type:
- Article
Observations of Turbulent Heat Fluxes Variability in a Semiarid Coastal Lagoon (Gulf of California).
- Published in:
- Atmosphere, 2020, v. 11, n. 6, p. 626, doi. 10.3390/atmos11060626
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- Publication type:
- Article
Backreaction issues in axion monodromy and Minkowski 4-forms.
- Published in:
- Journal of High Energy Physics, 2017, v. 2017, n. 6, p. 1, doi. 10.1007/JHEP06(2017)098
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- Publication type:
- Article
Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer.
- Published in:
- 2013
- By:
- Publication type:
- Report
Clinical study of a patient with congenital myotonic dystrophy reveals chylothorax as neonatal presentation of the disease.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 18, p. 2822, doi. 10.1093/hmg/ddad109
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- Publication type:
- Article
Skeletal abnormalities are common features in Aymé‐Gripp syndrome.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 2, p. 362, doi. 10.1111/cge.13651
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- Publication type:
- Article
Stringy evidence for a universal pattern at infinite distance.
- Published in:
- Journal of High Energy Physics, 2024, v. 2024, n. 6, p. 1, doi. 10.1007/JHEP06(2024)037
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- Publication type:
- Article
Running decompactification, sliding towers, and the distance conjecture.
- Published in:
- Journal of High Energy Physics, 2023, v. 2023, n. 12, p. 1, doi. 10.1007/JHEP12(2023)182
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- Publication type:
- Article
Asymptotic accelerated expansion in string theory and the Swampland.
- Published in:
- Journal of High Energy Physics, 2023, v. 2023, n. 6, p. 1, doi. 10.1007/JHEP06(2023)129
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- Publication type:
- Article
The desert and the swampland.
- Published in:
- Journal of High Energy Physics, 2023, v. 2023, n. 4, p. 1, doi. 10.1007/JHEP03(2023)109
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- Publication type:
- Article
The desert and the swampland.
- Published in:
- Journal of High Energy Physics, 2023, v. 2023, n. 3, p. 1, doi. 10.1007/JHEP03(2023)109
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- Publication type:
- Article
The dark dimension and the Swampland.
- Published in:
- Journal of High Energy Physics, 2023, v. 2023, n. 2, p. 1, doi. 10.1007/JHEP02(2023)022
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- Publication type:
- Article
Chern-Weil global symmetries and how quantum gravity avoids them.
- Published in:
- Journal of High Energy Physics, 2021, v. 2021, n. 11, p. 1, doi. 10.1007/JHEP11(2021)053
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- Publication type:
- Article
A CFT distance conjecture.
- Published in:
- Journal of High Energy Physics, 2021, v. 2021, n. 10, p. 1, doi. 10.1007/JHEP10(2021)070
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- Publication type:
- Article
Non-invertible global symmetries and completeness of the spectrum.
- Published in:
- Journal of High Energy Physics, 2021, v. 2021, n. 9, p. 1, doi. 10.1007/JHEP09(2021)203
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- Publication type:
- Article
The EFT stringy viewpoint on large distances.
- Published in:
- Journal of High Energy Physics, 2021, v. 2021, n. 9, p. 1, doi. 10.1007/JHEP09(2021)197
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- Publication type:
- Article
The convex hull swampland distance conjecture and bounds on non-geodesics.
- Published in:
- Journal of High Energy Physics, 2021, v. 2021, n. 3, p. 1, doi. 10.1007/JHEP03(2021)299
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- Publication type:
- Article
Swampland Conjectures for strings and membranes.
- Published in:
- Journal of High Energy Physics, 2021, v. 2021, n. 2, p. 1, doi. 10.1007/JHEP02(2021)006
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- Publication type:
- Article
Merging the weak gravity and distance conjectures using BPS extremal black holes.
- Published in:
- Journal of High Energy Physics, 2021, v. 2021, n. 1, p. 1, doi. 10.1007/JHEP01(2021)176
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- Publication type:
- Article
Erratum to: Asymptotic flux compactifications and the swampland.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
Nothing is certain in string compactifications.
- Published in:
- Journal of High Energy Physics, 2020, v. 2020, n. 12, p. 1, doi. 10.1007/JHEP12(2020)032
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- Publication type:
- Article
Asymptotic flux compactifications and the swampland.
- Published in:
- Journal of High Energy Physics, 2020, v. 2020, n. 6, p. 1, doi. 10.1007/JHEP06(2020)009
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- Publication type:
- Article
Swampland distance conjecture, inflation and α-attractors.
- Published in:
- Journal of High Energy Physics, 2019, v. 2019, n. 8, p. N.PAG, doi. 10.1007/JHEP08(2019)160
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- Publication type:
- Article
The Swampland Distance Conjecture for Kähler moduli.
- Published in:
- Journal of High Energy Physics, 2019, v. 2019, n. 8, p. N.PAG, doi. 10.1007/JHEP08(2019)075
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- Publication type:
- Article
Natural history of KBG syndrome in a large European cohort.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4131, doi. 10.1093/hmg/ddac167
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- Publication type:
- Article
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 14, p. 2435, doi. 10.1093/hmg/ddaa120
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- Publication type:
- Article
Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8‐year long observational study from a tertiary care university hospital.
- Published in:
- Prenatal Diagnosis, 2021, v. 41, n. 1, p. 123, doi. 10.1002/pd.5829
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- Publication type:
- Article
Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia.
- Published in:
- Human Mutation, 2013, v. 34, n. 6, p. 860, doi. 10.1002/humu.22309
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- Publication type:
- Article
Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 4, p. 1, doi. 10.1101/mcs.a006092
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- Publication type:
- Article
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1413, doi. 10.3390/genes13081413
- By:
- Publication type:
- Article
Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 738, doi. 10.3390/genes12050738
- By:
- Publication type:
- Article
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2 -Neurodevelopmental Disorder Episignature.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 14240, doi. 10.3390/ijms241814240
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- Publication type:
- Article
Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer.
- Published in:
- 2016
- By:
- Publication type:
- journal article