Found: 105
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Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 47, doi. 10.1111/cge.14509
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- Publication type:
- Article
HMG-CoA reductase is a potential therapeutic target for migraine: a mendelian randomization study.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-61628-9
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- Publication type:
- Article
Multimodal characterization of dilated cardiomyopathy: Geno‐ And Phenotyping of PrImary Cardiomyopathy (GrAPHIC).
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- ESC Heart Failure, 2024, v. 11, n. 1, p. 541, doi. 10.1002/ehf2.14544
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- Article
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2274, doi. 10.1002/ajmg.a.63335
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- Publication type:
- Article
Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02669-7
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- Article
A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.
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- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1083, doi. 10.1093/hmg/ddac267
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- Article
Functional Loss of Terminal Complement Complex Protects Rabbits from Injury-Induced Osteoarthritis on Structural and Cellular Level.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 2, p. 216, doi. 10.3390/biom13020216
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- Article
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-08476-7
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- Article
LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death.
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- Genes, 2022, v. 13, n. 2, p. 169, doi. 10.3390/genes13020169
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- Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
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- Human Genetics, 2022, v. 141, n. 2, p. 257, doi. 10.1007/s00439-021-02412-x
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- Article
A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A‐related pathologies.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 216, doi. 10.1002/ajmg.a.62525
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- Article
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 6, p. 766, doi. 10.1111/cge.14061
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- Article
Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia.
- Published in:
- Annals of Neurology, 2021, v. 90, n. 5, p. 738, doi. 10.1002/ana.26228
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- Article
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
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- Neurogenetics, 2021, v. 22, n. 4, p. 263, doi. 10.1007/s10048-021-00655-4
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- Article
Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
- Published in:
- Human Genetics, 2021, v. 140, n. 8, p. 1157, doi. 10.1007/s00439-021-02285-0
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- Publication type:
- Article
Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.
- Published in:
- Neonatology (16617800), 2021, v. 118, n. 4, p. 454, doi. 10.1159/000516890
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- Article
Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.
- Published in:
- 2021
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- Publication type:
- journal article
Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18146-9
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- Article
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
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- Human Genetics, 2020, v. 139, n. 4, p. 483, doi. 10.1007/s00439-019-02105-6
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- Article
Activating mutations in discoidin domain receptor 2 cause Warburg‐Cinotti syndrome.
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- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.5376
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- Publication type:
- Article
Cav2.3 channels contribute to dopaminergic neuron loss in a model of Parkinson’s disease.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-12834-x
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- Publication type:
- Article
Hereditary Syndromes With Signs of Premature Aging.
- Published in:
- Deutsches Ärzteblatt International, 2019, v. 116, n. 29/30, p. 489, doi. 10.3238/arztebl.2019.0489
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- Publication type:
- Article
Fatal Myelotoxicity Following Palliative Chemotherapy With Cisplatin and Gemcitabine in a Patient With Stage IV Cholangiocarcinoma Linked to Post Mortem Diagnosis of Fanconi Anemia.
- Published in:
- Frontiers in Oncology, 2019, p. N.PAG, doi. 10.3389/fonc.2019.00420
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- Publication type:
- Article
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
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- 2019
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- Publication type:
- journal article
Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness.
- Published in:
- Deutsches Ärzteblatt International, 2019, v. 116, n. 12, p. 197, doi. 10.3238/arztebl.2019.0197
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- Publication type:
- Article
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
- Published in:
- Human Genetics, 2018, v. 137, n. 11/12, p. 921, doi. 10.1007/s00439-018-1957-1
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- Article
CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1148, doi. 10.1002/mgg3.495
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- Publication type:
- Article
Neurodegenerative Erkrankungen.
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- Medizinische Genetik, 2018, v. 30, n. 2, p. 229, doi. 10.1007/s11825-018-0195-1
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- Publication type:
- Article
Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis.
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- Medizinische Genetik, 2018, v. 30, n. 2, p. 252, doi. 10.1007/s11825-018-0185-3
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- Article
The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy.
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- Journal of Neurology, 2018, v. 265, n. 5, p. 1026, doi. 10.1007/s00415-018-8790-2
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- Publication type:
- Article
Hot-spot KIF5A mutations cause familial ALS.
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- 2018
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- Publication type:
- journal article
Zeitschrift medizinischegenetik - Jahresbericht 2017.
- Published in:
- Medizinische Genetik, 2018, v. 30, n. 1, p. 55, doi. 10.1007/s11825-018-0177-3
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- Publication type:
- Article
Expanding the phenotype associated with biallelic <italic>WDR60</italic> mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 438, doi. 10.1002/ajmg.a.38562
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- Article
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3098, doi. 10.1002/ajmg.a.38406
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- Publication type:
- Article
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 20, p. 4055, doi. 10.1093/hmg/ddx296
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- Publication type:
- Article
AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.
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- 2017
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- Publication type:
- journal article
Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies.
- Published in:
- Human Genetics, 2017, v. 136, n. 3, p. 339, doi. 10.1007/s00439-017-1762-2
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- Publication type:
- Article
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation.
- Published in:
- 2016
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- Publication type:
- journal article
The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5.
- Published in:
- Scientific Reports, 2016, p. 33231, doi. 10.1038/srep33231
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- Article
Liquid Biopsies.
- Published in:
- 2016
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- Publication type:
- Editorial
Systematic re-evaluation of genes from candidate gene association studies in migraine using a large genome-wide association data set.
- Published in:
- 2016
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- Publication type:
- journal article
Involvement of astrocyte and oligodendrocyte gene sets in migraine.
- Published in:
- 2016
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- Publication type:
- journal article
Gene co-expression analysis identifies brain regions and cell types involved in migraine pathophysiology: a GWAS-based study using the Allen Human Brain Atlas.
- Published in:
- Human Genetics, 2016, v. 135, n. 4, p. 425, doi. 10.1007/s00439-016-1638-x
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- Publication type:
- Article
A Recurrent Synonymous KAT6B Mutation Causes Say-Barber-Biesecker/Young-Simpson Syndrome by Inducing Aberrant Splicing.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3006, doi. 10.1002/ajmg.a.37343
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- Article
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1070, doi. 10.1002/humu.22833
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- Article
Editorial.
- Published in:
- 2015
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- Publication type:
- Editorial
Clinical utility gene card for: Werner Syndrome - Update 2014.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 1, doi. 10.1038/ejhg.2014.171
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- Article
Serotonin Reuptake Inhibitors and Serotonin Transporter Genotype Modulate Performance Monitoring Functions But Not Their Electrophysiological Correlates.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 21, p. 8181, doi. 10.1523/JNEUROSCI.5124-14.2015
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- Publication type:
- Article
A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 670, doi. 10.1002/ajmg.a.36891
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- Publication type:
- Article